The Genetics of Back Pain

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The Genetics of Back Pain

Date of Content: March 10, 2024
Written by: Harvey Talento
Reviewed by: Maarit Tiirikainen, PhD

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Back pain is a common culprit that disrupts our days and disrupts our sleep. Whether it’s a dull throb or a sharp shooting pain, it can leave us reaching for the nearest pain reliever. But before popping a pill, some steps can be taken to address back pain and prevent it from coming back.

Back pain

Understanding Back Pain

Back pain can arise from various sources, from muscle strain to injury to underlying medical conditions. Knowing the cause is key to finding relief. Here are some common culprits:

  • Poor posture: Slouching at the desk or hunching over the phone can put undue stress on the spine.
  • Inactivity: Our bodies crave movement! Sitting for long periods can tighten muscles and lead to stiffness.
  • Improper lifting: Bending at the waist instead of the knees is a recipe for back trouble.
  • Stress: Physical and emotional tension can manifest in back pain.

How Back Pain Can Affect Daily Life

Back pain can turn the simplest tasks into challenges, impacting daily life in several ways:

  • Limited Mobility: Bending, twisting, reaching, and even standing for extended periods can become difficult or painful with back trouble. This can make everyday activities like housework, yard work, or even getting dressed a struggle.
  • Sleep Disruption: Pain can make it hard to find a comfortable sleeping position, leading to restless nights and fatigue. Poor sleep can worsen pain and make it harder to cope with daily activities.
  • Impact on Work: Sitting at a desk all day can aggravate back pain, and physical jobs can become impossible with certain back pain. This can affect productivity and even lead to job loss in severe cases.
  • Social Life Limitations: Back pain can make it difficult to participate in enjoyable activities,  from playing sports to going out with friends and family. This can lead to feelings of isolation and decreased social interaction.
  • Emotional Toll: Chronic pain can be frustrating and depressing. It can affect mood, energy levels, and overall well-being.

The severity of these impacts depends on the intensity and type of back pain. However, even minor back pain can disrupt daily routine and make it harder to enjoy life to the fullest.

How Genetics May Influence Back Pain

Genetics plays a surprising role in back pain susceptibility. While not the sole determinant, certain genes can influence your risk of developing back problems.

SOX5 Gene

In a 2018 chronic back pain (CBP) study, the gene SOX5 emerged as a significant factor. The variant rs12310519 within SOX5 showed genome-wide significance. This association was confirmed in additional UK Biobank participants. The protein encoded by SOX5 is thought to play a role in chondrogenesis, a dynamic cellular process that leads to the establishment of various types of cartilage, including hyaline, fibrous, and elastic cartilage. A joint meta-analysis confirmed SOX5’s role in CBP, suggesting its importance in understanding and potentially treating this condition.

CCDC26 and GSDMC Genes

An intergenic variant, rs7833174, between genes CCDC26 and GSDMC, showed a significant association with CBP in joint meta-analysis. This finding highlights the genetic contribution of the CCDC26/GSDMC region to back pain, suggesting avenues for further research and potential therapeutic targets.

DCC Gene

The intronic variant rs4384683 within DCC displayed suggestive association in the discovery sample and achieved genome-wide significance in a joint meta-analysis. This gene encodes a Netrin 1 receptor which has a role in neuronal axon guidance. The discovered role of DCC in CBP development offers insights into the molecular and physical mechanisms and potential therapeutic avenues for back pain management.

SPOCK2 and CHST3 Genes

In a 2019 study that involved a comprehensive analysis of over 500,000 individuals, one of the key findings was the identification of a novel genetic locus associated with back pain (BP) involving the SPOCK2 and CHST3 genes. Through genome-wide association study (GWAS) analyses, this locus showed significant association with BP and was successfully replicated across cohorts. This discovery underscores the importance of genetic variations within the SPOCK2/CHST3 region in influencing susceptibility to BP. SPOCK2  encodes a protein that binds with glycosaminoglycans to form part of the extracellular matrix whereas CHST3 encodes an enzyme that catalyzes the sulfation of chondroitin, a proteoglycan found in the extracellular matrix and most cells with a role in cell migration and differentiation. Further investigation into the specific mechanisms by which these genes contribute to BP pathogenesis may yield valuable insights into potential therapeutic targets for managing this debilitating condition.

Non-Genetic Factors Influencing Back Pain

Understanding the factors contributing to back pain is essential for effective management and prevention. Several key factors play a significant role in developing and exacerbating back pain:

Physical Demands

Both at home and in the workplace, physical demands such as heavy lifting, repetitive movements, and poor posture can strain the back muscles and contribute to pain and discomfort.

Ergonomics

Improper ergonomics, including poorly designed workstations and inadequate seating, can lead to poor posture and increased stress on the spine, exacerbating back pain over time.

Weight Management

Excess weight puts additional strain on the spine and surrounding muscles, increasing the risk of developing back pain and exacerbating existing conditions.

Temperature Control

Cold and damp environments can cause muscle stiffness and exacerbate existing back pain, highlighting the importance of maintaining a comfortable temperature in both living and working spaces.

Smoking

Smoking reduces blood flow to the spine, hindering the body’s ability to repair and maintain healthy spinal tissues, thus increasing the risk of back pain and impeding recovery from existing conditions.

Combating Back Pain Naturally

The good news is that many back pain solutions don’t involve medication. Here are some natural approaches to consider:

  • Exercise: Regular physical activity strengthens core muscles that support your spine. Try walking, swimming, or low-impact aerobics.
  • Stretching: Gentle stretches can improve flexibility and reduce muscle tightness. Focus on your hamstrings, glutes, and lower back.
  • Ergonomics: Make sure your workspace is set up for comfort. Invest in a supportive chair and adjust your monitor height to maintain good posture.
  • Mind-body practices: Techniques like yoga and tai chi can promote relaxation and improve core strength, which can both ease back pain.

When to See a Doctor

While back pain is common, there are situations where seeking professional help is crucial. If your pain is severe, persistent, or accompanied by other symptoms like numbness, weakness, or fever,  consult a doctor to rule out any underlying conditions.

About the LifeDNA Wellness Report

Understanding even complex factors like those affecting Back Pain becomes pivotal as we navigate the intricate pathways of our wellness. Imagine having personalized insights into your unique genetic traits related to your well-being. This is where the LifeDNA Wellness Report steps in. Going beyond generic advice, this tool provides tailored recommendations based on your unique genetic code, offering a holistic perspective on your well-being. By unlocking your genetic insights, you can take proactive steps towards a brighter, more informed lifestyle with the LifeDNA Wellness Report. Get it today!

Summary

  • Back pain stems from various causes, including poor posture, inactivity, improper lifting, and stress, necessitating the identification of the source for effective relief.
  • Back pain disrupts mobility, sleep, work productivity, social activities, and emotional well-being, impacting various aspects of daily life.
  • Genetic factors, such as the SOX5, CCDC26/GSDMC, DCC, and SPOCK2/CHST3 genes, contribute to susceptibility to chronic back pain, offering insights into potential therapeutic targets.
  • Physical demands, ergonomics, weight management, temperature control, and smoking are non-genetic factors that influence the development and exacerbation of back pain.
  • Natural approaches to alleviate back pain include exercise, stretching, ergonomic adjustments, and mind-body practices like yoga and tai chi, offering medication-free solutions.
  • Seeking medical attention is necessary if back pain is severe, persistent, or accompanied by symptoms like numbness, weakness, or fever to rule out underlying conditions.

References

  1. https://my.clevelandclinic.org/health/diseases/22325-back-pain
  2. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8595117/
  3. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6879497/#:~:text=Chronic%20pain%20is%20highly%20comorbid,thresholds%20and%20increases%20spontaneous%20pain.
  4. https://pubmed.ncbi.nlm.nih.gov/9794341/
  5. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5914385/
  6. https://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1007601
  7. https://journals.lww.com/pain/abstract/2019/06000/insight_into_the_genetic_architecture_of_back_pain.12.aspx
  8. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8053459/
  9. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4934575/

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Great source of information I was looking for a platform to make use of my existing raw data from Ancestry. I’m glad I found LifeDNA. I originally took a DNA test to learn about my roots and it’s great to know that my DNA could also play a big role in my health, diet, and even my skin. Overall, all the reports are incredible.
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*Understanding your genetics can offer valuable insights into your well-being, but it is not deterministic. Your traits can be influenced by the complex interplay involving nature, lifestyle, family history, and others.

Our reports and suggestions do not diagnose or treat any health conditions or provide any medical advice. Consult with a healthcare professional before making any major lifestyle changes or if you have any other concerns about your results.

Understanding Nearsightedness and Genetics

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Understanding Nearsightedness and Genetics

Date of Content: March 11, 2024
Written by: Harvey Talento
Reviewed by: Maarit Tiirikainen, PhD

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Nearsightedness, also known as myopia, is a prevalent vision condition affecting a significant portion of the population. This condition can make distant objects appear blurry, while near objects remain clear.

Nearsightedness

The Science Behind Blurry Vision

The human eye relies on the cornea and lens to bend incoming light rays and focus them precisely onto the retina, a light-sensitive layer at the back of the eye. This perfect focus enables us to see clearly.

However, in nearsightedness, the eyeball is either too elongated from front to back, or the cornea has an excessive curvature. This disrupts the light’s pathway, causing it to converge in front of the retina instead of directly on it. Consequently, distant objects become blurry.

Recognizing the Signs

Several indicators suggest the presence of nearsightedness:

If these symptoms are present, scheduling an eye exam with an ophthalmologist or optometrist is crucial. Early detection and correction of nearsightedness can prevent potential complications.

How Genetics May Influence Nearsightedness

Nearsightedness impacts millions globally, shaping not only the vision but also reflecting the complex workings of the eye.. Research has uncovered genetic factors contributing to nearsightedness, revealing the fascinating connection between germline genetic variation and sight.

GJD2 / ACTC1 Genes

The chromosome 15q14 locus encompasses two notable genes: GJD2 and ACTC1. GJD2 encodes the Connexin36 protein, which plays a crucial role in visual signal transmission within the retina. Additionally, ACTC1, another candidate gene further away in this region, is speculated to be involved in scleral remodeling, potentially influencing myopia progression. A genetic variant in this region, SNP rs634990, was found to be associated with the risk for nearsightedness in a large international GWAS study. 

MIPEP Gene

MIPEP, which stands for mitochondrial intermediate peptide gene, is one of the genes within the 13q12.12 locus associated with high myopia. The genetic variant rs9318086, located in intron 10 of the MIPEP gene, has demonstrated a significant association with high myopia in the Han Chinese population. This association was observed in a GWAS, with the variant showing strong odds ratios (heterozygous odds ratio = 1.32, homozygous odds ratio = 1.64) and a combined p-value of 1.91 × 10^-16 across multiple cohorts.

MYP11 Region

A genetic variant in  MYP11, Myopia 11 chromosomal region, located within chromosome 4q22–q27, is implicated in high-grade myopia (HM) among the Han Chinese population. Despite lacking known coding genes, a significant SNP, rs10034228, within this region correlates with HM susceptibility. Expressive sequence tags (ESTs)are present in the MYP11 locus, potentially influencing ocular development. Additionally, a predicted gene in this region shares sequence similarities with tubulin, suggesting a role in eye development. Further research into the MYP11 region may elucidate its contribution to HM pathology and aid in developing targeted therapies.

Studying the genetic variation linked to nearsightedness gives us a better understanding of how it develops and progresses. Knowing these genetic factors can lead to new ways to prevent and manage nearsightedness, and maybe even to find treatments.

Non-Genetic Factors Influencing Nearsightedness

Nearsightedness is a common vision problem with a multifactorial origin. While the exact cause remains under investigation, research suggests a combination of genetic predisposition, as discussed, and environmental influences play a role. Let’s dive deeper into these environmental factors:

  • Near Work Activities: Extensive near work like reading, using computers, or focusing on close objects for prolonged periods has been linked to temporary nearsightedness.
  • Reduced Outdoor Time: Studies suggest spending less time outdoors, particularly in natural light, might be a contributing factor.
  • Other Factors: Other potential contributing factors include ethnicity, socioeconomic status, and certain prenatal or birth-related conditions.

It’s important to note that these factors likely interact in complex ways. Researchers are continuously investigating the causes of nearsightedness. By understanding these factors, we can potentially develop strategies to prevent or slow the progression of this condition.

Treatment Options for Sharpening Vision

Fortunately, nearsightedness is readily correctable through various methods:

  • Eyeglasses:  Corrective lenses that redirect light rays can be used to focus the light rays accurately on the retina.
  • Contact Lenses: Thin corrective lenses placed directly on the cornea provide a broader field of view than eyeglasses.
  • Refractive Surgery: In some cases, laser surgery can be used to permanently modify the cornea’s shape to enhance focus.

Living Comfortably with Nearsightedness

Nearsightedness is a manageable condition. With appropriate vision correction and regular eye checkups, individuals can experience clear vision and participate fully in life’s activities. Here are some additional tips for comfortable living with nearsightedness:

  • Practice good eye hygiene: Regularly clean eyeglasses or contact lenses per the eye doctor’s instructions.
  • Reduce screen time: Take breaks from using computers, phones, and tablets to minimize eye strain.
  • Protect your eyes from the sun: Wear sunglasses that block UVA and UVB rays to safeguard your eyes from sun damage.

By understanding nearsightedness and taking the necessary steps for correction, we can enjoy a world in a sharp focus.

About the LifeDNA Wellness Report

Understanding even complex factors like those affecting Nearsightedness becomes pivotal as we navigate the intricate pathways of our wellness. Imagine having personalized insights into your unique genetic traits related to your well-being. This is where the LifeDNA Wellness Report steps in. Going beyond generic advice, this tool provides tailored recommendations based on your genetic code, offering a holistic perspective on your well-being. By unlocking your genetic insights, you can take proactive steps towards a brighter, more informed lifestyle with the LifeDNA Wellness Report. Get it today!

Summary

  • Nearsightedness, also known as myopia, affects a significant portion of the population, causing distant objects to appear blurry while near objects remain clear.
  • The human eye relies on precise light bending to focus images onto the retina. In myopia, the eyeball’s shape disrupts this process, leading to blurry distant vision.
  • Signs of nearsightedness include difficulty seeing distant objects, squinting, headaches from eye strain, and reduced vision in low light. Early detection through an eye exam is crucial for effective management.
  • Genetic factors contribute to nearsightedness, with genes like GJD2, ACTC1, MIPEP, and the MYP11 region playing key roles. Understanding these genetic influences may lead to new prevention and treatment approaches.
  • Environmental factors such as near-work activities, reduced outdoor time, and education level also influence nearsightedness development. These factors interact with genetic predispositions in complex ways.
  • Nearsightedness can be corrected with eyeglasses, contact lenses, or refractive surgery, providing clear vision for individuals.
  • Practicing good eye hygiene, reducing screen time, and protecting eyes from the sun are essential for comfortable living with nearsightedness.
  • Understanding and managing nearsightedness empowers individuals to maintain clear vision and actively engage in daily activities.

References

  1. https://medlineplus.gov/genetics/condition/nearsightedness/
  2. https://www.aoa.org/healthy-eyes/eye-and-vision-conditions/myopia
  3. https://medlineplus.gov/ency/imagepages/19511.htm
  4. https://my.clevelandclinic.org/health/diseases/8579-myopia-nearsightedness
  5. https://link.springer.com/article/10.1007/s00439-012-1176-0
  6. https://bjo.bmj.com/content/105/6/869
  7. https://academic.oup.com/hmg/article/20/14/2861/703356
  8. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3058260/#:~:text=Whether%20this%20is%20due%20to,multifactorial%20etiology%20of%20refractive%20error.
  9. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7973740/

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I am so impressed with this service. I have even discussed these recommendations with my health care providers and they are all impressed too! I can’t compare it with other services as I have only tried this but I recommend. Also I think I pulled my genetics in from ancestry too which was super convenient.
Lei'a
Lei'a
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Great source of information I was looking for a platform to make use of my existing raw data from Ancestry. I’m glad I found LifeDNA. I originally took a DNA test to learn about my roots and it’s great to know that my DNA could also play a big role in my health, diet, and even my skin. Overall, all the reports are incredible.
Shiraz Dole
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It is crazy how I felt that I had a strong understanding of my bodies needs, but after having my DNA analyzed by the LifeDNA team, I realized that there was so much I still did not know.
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I got some pretty useful insight that helped me with my diet.
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*Understanding your genetics can offer valuable insights into your well-being, but it is not deterministic. Your traits can be influenced by the complex interplay involving nature, lifestyle, family history, and others.

Our reports and suggestions do not diagnose or treat any health conditions or provide any medical advice. Consult with a healthcare professional before making any major lifestyle changes or if you have any other concerns about your results.

Earwax Type and its Genetic Significance

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Earwax Type and its Genetic Significance

Date of Content: March 12, 2024
Written by: Harvey Talento
Reviewed by: Maarit Tiirikainen, PhD

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Earwax, also known as cerumen, plays a critical role in maintaining healthy ears. Often dismissed as an unpleasant necessity, earwax boasts fascinating variations with underlying genetic links. Understanding these offers a deeper appreciation for this essential component of a healthy auditory system.

Earwax type

Wet vs. Dry Earwax

There are two main types of earwax, each with distinct characteristics and prevalence among different ethnic groups.

  • Wet earwax, which is sticky and yellowish-brown, is more common in people of European and African descent. It acts like an adhesive, trapping dust and dirt to protect the ear canal.
  • On the other hand, dry earwax appears flaky and grayish-tan, and is more prevalent among those with East Asian ancestry. Unlike wet earwax, it’s less adhesive, making it easier for the ear’s self-cleaning mechanism to remove debris.

The Functions of Earwax

Earwax serves several crucial functions in maintaining the health of the ears:

  • Trapping dust and debris: Acting as a sticky barrier, earwax effectively traps dust, dirt, and other small particles that could otherwise irritate or harm the delicate ear canal and eardrum.
  • Preventing infections: With its innate antibacterial and antifungal properties, earwax acts as a natural defender against germs, helping to stave off infections within the ear canal.
  • Lubrication: Earwax plays a role in keeping the ear canal adequately moist and lubricated, thereby preventing dryness and minimizing the risk of irritation.
  • Protection from water: In addition to its adhesive properties, earwax also exhibits water-repelling characteristics. This helps to shield the ear canal from water intrusion, reducing the likelihood of conditions like swimmer’s ear.

Overall, earwax serves as an integral component of the body’s defense system for maintaining ear health. By keeping the ears clean, lubricated, and safeguarded against infection, earwax plays a vital role in ensuring optimal auditory well-being.

Maintaining Ear Health

Maintaining optimal ear health necessitates a delicate equilibrium in earwax production, regardless of its type. Whether wet or dry, an overabundance of earwax can result in impaction, leading to discomfort and potential hearing impairments.

In cases where ear-related issues arise, seeking guidance from a healthcare professional for appropriate ear cleaning is paramount. By prioritizing proactive ear care and promptly addressing any concerns, individuals can safeguard their hearing and overall well-being.

How Genetics May Influence Earwax Type

The genetic basis for the differences in earwax type can be attributed to variations in the ABCC11 gene, which plays a crucial role in determining the consistency and composition of earwax.

ABCC11 Gene

The type of earwax a person has, whether wet or dry, is determined by a specific gene called ABCC11. This gene has a small variation known as a single nucleotide polymorphism (SNP), that affects the earwax type, specifically at position 538 where a G can change to an A. 

If a person has two A-alleles of this SNP (AA genotype), they will have dry earwax. On the other hand, if they have one or two G-alleles(GA or GG genotype), they will have wet earwax.

This SNP isn’t the only factor; there’s also a deletion variant of 27 base pairs in a specific part of the ABCC11 gene that can influence earwax type, particularly in some people of Asian descent.

Scientists have found that the type of earwax a person has is linked to how efficiently their cells expel a molecule called cyclic guanosine monophosphate (cGMP). 

Cells with the A-allele of the SNP, which is linked to dry earwax, are less efficient at getting rid of cGMP than cells with the G-allele, which is linked to wet earwax.

Interestingly, the distribution of these earwax types follows a geographical pattern, with dry earwax more common in certain populations, like those in northeast Asia, particularly among Chinese and Koreans. This suggests that the dry earwax variant of the ABCC11 gene likely originated in northeast Asia and then spread to other parts of the world over time.

Non-Genetic Factors Influencing Earwax Type

While genetics primarily determines whether one has wet or dry earwax, there are additional factors that may contribute to earwax type, although research in these areas is still evolving:

Age

Earwax production tends to decrease naturally as individuals age. This decline could be attributed to hormonal changes or simply a slowdown in the activity of the ceruminous glands responsible for earwax secretion.

Diet

While no direct correlation has been established between specific foods and earwax type, some hypotheses suggest a potential indirect link. It’s theorized that diets rich in unhealthy fats might trigger inflammation, which could impact the consistency of earwax. However, further research is needed to validate this connection.

Ear Canal Health

Certain ear conditions such as eczema or chronic infections might potentially influence the composition of earwax. However, conclusive evidence is lacking, and more studies are necessary to confirm these associations.

Environmental Factors

There are speculations that environmental factors, such as climate, could play a role in earwax type. For instance, it’s suggested that dry earwax might be advantageous in colder regions, where it could prevent secretions from freezing. Nonetheless, these theories require thorough investigation before any definitive conclusions can be drawn.

It’s essential to recognize that while these factors may play a role, genetics overwhelmingly dictate earwax type. The influence of these additional factors on earwax composition is likely minimal compared to the dominant role of genetic predisposition. Further research is essential to unravel the complexities surrounding earwax production and its various determinants.

About the LifeDNA Wellness Report

Understanding even complex factors like those affecting Earwax Type becomes pivotal as we navigate the intricate pathways of our wellness. Imagine having personalized insights into your unique genetic traits related to your well-being. This is where the LifeDNA Wellness Report steps in. Going beyond generic advice, this tool provides tailored recommendations based on your genetic code, offering a holistic perspective on your well-being. By unlocking your genetic insights, you can take proactive steps towards a brighter, more informed lifestyle with the LifeDNA Wellness Report. Get it today!

Summary

  • Earwax, also known as cerumen, is crucial for maintaining healthy ears and exhibits fascinating variations with genetic links. Understanding these variations provides deeper insights into the significance of this essential component of auditory wellness.
  • There are two main types of earwax, wet and dry, each prevalent in different ethnic groups. Wet earwax, sticky and yellowish-brown, is common in individuals of European and African descent, while dry earwax, flaky and grayish-tan, is more prevalent among those with East Asian ancestry.
  • Earwax serves multiple critical functions in ear health, including trapping dust and debris, preventing infections, lubricating the ear canal, and protecting from water intrusion. It acts as a natural defense system, ensuring optimal auditory well-being.
  • Maintaining proper ear health requires a balance in earwax production. Excess earwax can lead to impaction and discomfort, necessitating professional ear cleaning when issues arise to prevent hearing impairments.
  • The ABCC11 gene primarily determines earwax type, with variations leading to wet or dry earwax. The distribution of these variations follows a geographical pattern, suggesting a link between genetics and earwax type prevalence among different populations.

While genetics plays a dominant role, factors such as age, diet, ear canal health, and environmental factors may also influence earwax type, albeit to a lesser extent. Further research is needed to fully understand these influences on earwax composition.

References

  1. https://my.clevelandclinic.org/health/body/24624-earwax
  2. https://www.ncbi.nlm.nih.gov/sites/books/NBK2333/#:~:text=To%20isolate%20the%20specific%20genetic,5%2Dgene%20region%20of%20DNA.
  3. https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/ear-wax
  4. https://pubmed.ncbi.nlm.nih.gov/18694532/
  5. https://www.ncbi.nlm.nih.gov/books/NBK536541/
  6. https://academic.oup.com/mbe/article/28/1/849/987325
  7. https://www.nature.com/articles/ng1733

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I am so impressed with this service. I have even discussed these recommendations with my health care providers and they are all impressed too! I can’t compare it with other services as I have only tried this but I recommend. Also I think I pulled my genetics in from ancestry too which was super convenient.
Lei'a
Lei'a
LifeDNA Customer
Read More
Great source of information I was looking for a platform to make use of my existing raw data from Ancestry. I’m glad I found LifeDNA. I originally took a DNA test to learn about my roots and it’s great to know that my DNA could also play a big role in my health, diet, and even my skin. Overall, all the reports are incredible.
Shiraz Dole
Shiraz Dole
LifeDNA Customer
Read More
It is crazy how I felt that I had a strong understanding of my bodies needs, but after having my DNA analyzed by the LifeDNA team, I realized that there was so much I still did not know.
Doc Sheila Lim
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Read More
I got some pretty useful insight that helped me with my diet.
Previous
Next

*Understanding your genetics can offer valuable insights into your well-being, but it is not deterministic. Your traits can be influenced by the complex interplay involving nature, lifestyle, family history, and others.

Our reports and suggestions do not diagnose or treat any health conditions or provide any medical advice. Consult with a healthcare professional before making any major lifestyle changes or if you have any other concerns about your results.

Visceral Body Fat: Are You Genetically Susceptible?

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Visceral Body Fat: Are You Genetically Susceptible?

Date of Content: March 18, 2024
Written by: Avanthika Nityanand
Reviewed by: Maarit Tiirikainen, PhD

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What is Visceral Body Fat?

Visceral body fat or intra-abdominal or abdominal fat is stored deep within the abdominal cavity around vital organs such as the liver, pancreas, and intestines. Unlike subcutaneous fat, which lies beneath the skin, visceral fat is deeper within the body.

Visceral body fat

Visceral fat serves several vital functions, including cushioning and protecting organs, storing energy, and releasing hormones to regulate metabolism. However, excessive accumulation of visceral fat can lead to health problems.

Is Visceral Body Fat Bad for You?

Excessive visceral body fat is associated with various health risks and can harm overall health. Unlike subcutaneous fat, which primarily affects appearance, visceral fat is metabolically active and secrete hormones and inflammatory substances that can disrupt normal bodily functions.

High levels of visceral fat are associated with an increased risk of several health conditions, including type 2 diabetes, cardiovascular disease, insulin resistance, hypertension, and certain cancers. Additionally, visceral fat is closely associated with metabolic syndrome, a cluster of conditions that increase the risk of heart disease, stroke, and diabetes.

Given its proximity to vital organs, visceral fat can significantly impact health more than subcutaneous fat. Therefore, reducing visceral fat is crucial for lowering the risk of obesity-related diseases and improving overall health.

Genetics of Visceral Body Fat

Early studies on visceral body fat have highlighted its genetic origins. A 1997 paper examining the genetic susceptibility to visceral fat observed that genetic influences contribute to variations in body fat distribution. Additionally, genetic susceptibility may impact the relationship between visceral fat accumulation and metabolic alterations, with specific gene polymorphisms altering the association between visceral obesity and plasma lipoprotein-lipid levels. The findings underscore genetic factors’ significant influence on visceral adipose tissue accumulation and its association with metabolic alterations.

CRYBG1 & ATG5 

The CRYBG1 gene, or “Cryptochrome Binding Globulin 1,” encodes a protein in circadian rhythm regulation and lipid metabolism. Recent research has suggested a potential association between variations in the CRYBG1 gene and visceral body fat accumulation. Studies have indicated that specific genetic variants of CRYBG1 may be associated with increased visceral adipose tissue (VAT) deposition, particularly in individuals with obesity or metabolic disorders. 

According to a 2019 GWAS, the major allele of SNP rs803522 has a potential to increase visceral fat accumulation, consistent across both adolescents and adults.

However, the exact mechanism by which CRYBG1 influences visceral fat accumulation is still under investigation. Further research is needed to fully elucidate the role of CRYBG1 in adipose tissue biology and its implications for metabolic health.

Interestingly, the SNP rs803522 is near yet another gene,  ATG5, a gene crucial for modulating adipocyte size and macrophage polarization. ATG5 plays a vital role in autophagy, a cellular process responsible for maintaining energy balance and homeostasis by degrading damaged organelles and mobilizing intracellular nutrients, including lipids. 

Studies in mice have shown that overexpression of mouse Atg5 gene reduces body fat accumulation and prolongs lifespan. Deletion of Atg5 in adipocytes increases adiposity by altering lipid storage and burning capacities. Similar effects were observed with the deletion of Atg7, a molecular partner of ATG5. In humans, ATG5 expression is higher in obese individuals compared to lean ones and changes in response to caloric restriction or bariatric surgery.

How to Reduce Visceral Body Fat

Reducing visceral body fat involves adopting a comprehensive approach that includes dietary changes, regular physical activity, and lifestyle modifications:

  • Healthy Diet: Focus on consuming whole, nutrient-dense foods such as fruits, vegetables, lean proteins, whole grains, and healthy fats. Limit consuming sugary beverages, processed foods, refined carbohydrates, and saturated fats.
  • Regular Exercise: Engage in regular aerobic exercise, such as brisk walking, jogging, cycling, or swimming, for at least 150 minutes per week. Incorporate strength training exercises to build muscle mass and boost metabolism.
  • Manage Stress: Chronic stress can contribute to visceral fat accumulation. Practice stress-reducing techniques such as mindfulness meditation, deep breathing exercises, yoga, or tai chi.
  • Adequate Sleep: Aim for 7-9 hours of quality sleep per night, as inadequate sleep can disrupt hormonal balance and increase appetite, leading to weight gain and visceral fat accumulation.
  • Limit Alcohol Intake: Excessive alcohol consumption can contribute to visceral fat accumulation. Limit alcohol intake to moderate levels, defined as up to one drink per day for women and up to two drinks per day for men.

Does the Body Burn Visceral Fat?

The body doesn’t selectively burn visceral fat as a primary fuel source. When you engage in activities that require energy, such as exercise, the body draws upon stored fat reserves for fuel. However, the specific fat stores mobilized for energy depend on various factors, including genetics, hormone levels, and overall metabolic health.

During periods of energy expenditure, the body typically mobilizes fat stores from multiple locations, including subcutaneous and visceral fat stores, to meet energy demands. While visceral fat can contribute to overall fat loss, the body doesn’t prioritize burning visceral fat over other fat stores.

Therefore, reducing visceral fat requires a comprehensive approach focusing on overall fat loss through diet, exercise, and lifestyle modifications rather than relying on targeted fat-burning strategies.

How to Measure Visceral Body Fat

We cannot directly measure visceral body fat through traditional methods like body mass index (BMI) or skinfold calipers. 

However, several indirect methods can estimate visceral fat levels:

  • Waist Circumference: Visceral fat tends to accumulate in the abdomen. Measuring waist circumference at the navel level can indicate visceral fat accumulation. A waist circumference of more than 35 inches (88 cm) in women and 40 inches (102 cm) in men is associated with increased visceral fat and health risks.
  • Imaging Techniques: Advanced imaging techniques such as magnetic resonance imaging (MRI) and computed tomography (CT) scans can directly visualize and quantify visceral fat volume. However, these methods are expensive and typically reserved for research or clinical settings.
  • Bioelectrical Impedance Analysis (BIA): Some BIA devices claim to estimate visceral fat levels based on electrical impedance measurements. While less accurate than imaging techniques, BIA can provide a convenient and affordable estimation of visceral fat.
  • Dual-Energy X-ray Absorptiometry (DEXA): DEXA scans, primarily used for assessing bone density, can also estimate body composition, including visceral fat levels. However, like MRI and CT scans, DEXA is more commonly used in research or clinical settings due to cost and accessibility.

While these methods can estimate visceral fat levels, it’s essential to interpret results with other health indicators and consult a healthcare professional for personalized recommendations.

LifeDNA Fitness Report

Understanding your unique genetic makeup can be a game-changer in fitness and personal health. By delving into the details of your DNA, you can gain valuable insights into various aspects of your physical wellness and exercise preferences. We can leverage it to tailor a fitness regimen that aligns with your body’s intrinsic characteristics. 

Visceral body fat

The LifeDNA Fitness report has nearly 30 traits, including Visceral Fat susceptibility. Get your report here.

References

  1. https://www.healthdirect.gov.au/how-to-reduce-visceral-body-fat-hidden-fat
  2. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3473928/
  3. https://www.nature.com/articles/0800488
  4. https://pubmed.ncbi.nlm.nih.gov/30942860/
  5. https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0279932

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Christopher Devlin
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I am so impressed with this service. I have even discussed these recommendations with my health care providers and they are all impressed too! I can’t compare it with other services as I have only tried this but I recommend. Also I think I pulled my genetics in from ancestry too which was super convenient.
Lei'a
Lei'a
LifeDNA Customer
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Great source of information I was looking for a platform to make use of my existing raw data from Ancestry. I’m glad I found LifeDNA. I originally took a DNA test to learn about my roots and it’s great to know that my DNA could also play a big role in my health, diet, and even my skin. Overall, all the reports are incredible.
Shiraz Dole
Shiraz Dole
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It is crazy how I felt that I had a strong understanding of my bodies needs, but after having my DNA analyzed by the LifeDNA team, I realized that there was so much I still did not know.
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I got some pretty useful insight that helped me with my diet.
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*Understanding your genetics can offer valuable insights into your well-being, but it is not deterministic. Your traits can be influenced by the complex interplay involving nature, lifestyle, family history, and others.

Our reports have not been evaluated by the Food and Drug Administration. The contents on our website and our reports are for informational purposes only, and are not intended to diagnose any medical condition, replace the advice of a healthcare professional, or provide any medical advice, diagnosis, or treatment. Consult with a healthcare professional before making any major lifestyle changes or if you have any other concerns about your results. The testimonials featured may have used more than one LifeDNA or LifeDNA vendors’ product or reports.

The Genetics of Body Fat Percentage

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The Genetics of Body Fat Percentage

Date of Content: March 16, 2024
Written by: Avanthika Nityanand
Reviewed by: Maarit Tiirikainen, PhD

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What is Body Fat Percentage?

Body fat percentage refers to the proportion of fat tissue relative to the total body weight. It is a crucial measure of overall health and fitness as it indicates the amount of fat mass compared to lean mass, which includes muscles, bones, organs, and water content. Unlike total body weight or body mass index (BMI), which only provides general estimates of body composition, body fat percentage offers a more accurate assessment of one’s health status.

Body fat percentage

What is a Healthy Body Fat Percentage

A healthy body fat percentage varies depending on age, sex, and fitness level. A healthy body fat percentage for men is around 10-20%, while for women, the range is around 20-30%. Athletes and individuals with higher muscle mass may have slightly lower body fat percentages. However, excessively low body fat percentages can pose health risks, including hormonal imbalances and impaired immune function.

Genetics of Body Fat

FTO

The fat mass and obesity-associated (FTO) gene is located on chromosome 16 in humans. It plays a crucial role in regulating body weight and metabolism. Several ariations in the FTO gene have been associated with obesity and increased BMI. This gene is involved in the control of food intake, energy expenditure, and adipose tissue development. Certain genetic variations within the FTO gene have been linked to higher body weight, increased fat mass, and a higher risk of obesity-related conditions such as type 2 diabetes and cardiovascular diseases.

A 2007 genome-wide search found that a common variant of the FTO gene (SNP rs9939609) influenced BMI, predisposing individuals to diabetes. This association was confirmed across 13 cohorts comprising 38,759 participants. Adults homozygous for the risk allele weighed approximately 3 kilograms more. It had a 1.67-fold higher likelihood of obesity compared to non-carriers. This effect was evident from age seven and led to a specific increase in fat mass. A 2021 study found another FTO SNP, rs11642015, to be specifically associated with body fat percentage. 

PLA2G6

The PLA2G6 gene, also known as Phospholipase A2 Group VI, encodes an enzyme called calcium-independent phospholipase A2 beta (iPLA2β). This enzyme belongs to the phospholipase A2 family. It plays a crucial role in cellular lipid metabolism by catalyzing the hydrolysis of phospholipids to release fatty acids and lysophospholipids.

According to a 2016 GWAS, the risk allele of the rs3761445 SNP of the PLAG6 gene can increase your susceptibility to accumulate body fat

SEC16B

The SEC16B gene encodes a protein that plays a role in the assembly and organization of specific vesicles responsible for transporting newly synthesized proteins from a cell organelle called the endoplasmic reticulum, to another organelle called the Golgi apparatus, for further processing and sorting. Variations in the SEC16B gene have been associated with obesity and BMI, implying its involvement in regulating energy metabolism and adiposity. 

The risk allele of rs543874 in the SEC16B gene has been found to be associated with an increased susceptibility to higher body fat percentage.

Non-genetic Factors Influencing Body Fat Percentage

Non-genetic factors play a substantial role in determining body fat percentage, influencing how fat is acquired, stored and distributed throughout the body. 

These factors encompass various aspects of lifestyle, dietary habits, physical activity levels, and environmental influences that collectively impact body composition. Here’s an expanded discussion on the non-genetic factors influencing body fat percentage:

Dietary Habits: The type and quantity of food consumed can significantly influence body fat percentage. Diets high in processed foods, refined sugars, and unhealthy fats contribute to excess calorie intake, leading to fat accumulation. Conversely, diets rich in whole grains, lean proteins, fruits, vegetables, and healthy fats support weight management and reduce body fat percentage. Mindful eating practices such as portion control and avoiding emotional eating play a crucial role in maintaining healthy body composition.

You may also like: Walkthrough of the LifeDNA Nutrition Report

Physical Activity Levels: Regular physical activity and exercise are vital for managing body fat percentage. Aerobic exercises such as jogging, cycling, and swimming increase calorie expenditure, promoting fat loss and improving overall cardiovascular health. Strength training exercises, including weightlifting and resistance training, build lean muscle mass, which boosts metabolism and enhances fat-burning capacity, even at rest. Incorporating aerobic and strength training exercises into a fitness routine yields optimal results in reducing body fat percentage.

Also read: Walkthrough of the LifeDNA Fitness Report

Lifestyle Choices: Lifestyle factors, such as sleep quality, stress management, and substance use, influence body fat accumulation. Inadequate sleep disrupts hormonal balance, leading to increased appetite, cravings for high-calorie foods, and weight gain. Chronic stress triggers the release of cortisol, a hormone associated with fat storage, particularly around the abdominal area. Limiting alcohol consumption and avoiding smoking also support efforts to reduce body fat percentage and improve overall health.

Hydration Status: Adequate hydration is essential for maintaining optimal metabolic function and supporting fat metabolism. Water is crucial in various physiological processes, including digestion, nutrient absorption, and waste elimination. Staying hydrated helps regulate appetite, prevents overeating, and supports efficient fat breakdown and utilization. Opting for water or low-calorie beverages over sugary drinks can aid in weight management and reducing body fat percentage.

Also read: A Walkthrough of the Wellness Report

Environmental Factors: Environmental factors, such as socioeconomic status, access to healthy food options, and cultural influences, can impact dietary choices and physical activity levels and influence body fat percentage. Individuals with limited access to nutritious foods may rely on inexpensive, calorie-dense options, increasing the risk of weight gain and obesity. Moreover, cultural norms and societal pressures regarding body image and food preferences may influence eating behaviors and perceptions of ideal body weight, affecting body fat percentage.

Understanding the genetic risk factors and addressing these non-genetic factors through lifestyle modifications, including adopting a balanced diet, engaging in regular exercise, managing stress effectively, prioritizing adequate sleep, and maintaining hydration, is vital to achieving and maintaining a healthy body fat percentage.

How to Calculate Body Fat Percentage

Body fat percentage can be determined using various methods, including:

  • Skinfold Calipers: This method involves measuring skinfold thickness at specific sites on the body and using those measurements to estimate body fat percentage.
  • Bioelectrical Impedance Analysis (BIA): BIA devices measure the resistance of body tissues to electrical currents, providing estimates of body fat percentage based on conductivity.
  • Dual-Energy X-ray Absorptiometry (DEXA): DEXA scans utilize X-rays to measure bone density, lean mass, and fat mass, offering highly accurate assessments for body composition.
  • Hydrostatic Weighing: This method, also known as underwater weighing, determines body density by measuring buoyancy in water, from which body fat percentage is calculated.

How to Reduce Body Fat Percentage Naturally

Reducing higher than optimal body fat percentage involves adopting a balanced approach that includes dietary modifications, regular exercise, and lifestyle changes. A combination of aerobic exercise, strength training, and flexibility exercises helps burn calories, build lean muscle mass, and improve metabolic rate. Also, focusing on a nutrient-dense diet rich in whole foods, controlling portion sizes, and staying hydrated supports healthy weight loss and fat reduction.

What Is Ideal Body Fat Percentage to See the Abs

Lower body fat percentages in the abdominal region lead to visible abs. For men, defined abs are usually visible at around 10-12% body fat, while for women, they become visible at approximately 16-20%. 

However, genetics, muscle definition, and individual body composition also influence the visibility of abs. It’s essential to prioritize overall health and fitness rather than solely focusing on achieving a specific body fat percentage for aesthetic goals.

LifeDNA Fitness Report

The LifeDNA Fitness Report offers a personalized analysis of how genetic factors can shape an individual’s fitness journey. 

The report provides insights into nearly 30 traits utilizing cutting-edge genomic science, spanning aspects such as muscle composition, metabolism, injury risk, and exercise response. 

This information can empower you to tailor your fitness routine and nutritional plans to sync with your genetic makeup.

The LifeDNA Fitness report covers Body Fat Percentage. Get your report here.

Body fat percentage

References

  1. https://www.sciencedirect.com/topics/psychology/body-fat-percentage
  2. https://www.science.org/doi/10.1126/science.1141634
  3. https://www.nature.com/articles/ncomms10495#Sec2
  4. https://www.healthline.com/health/body-fat-percentage-for-abs
  5. https://pubmed.ncbi.nlm.nih.gov/8615340/

Customer Reviews

Christopher Devlin
Christopher Devlin
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I am so impressed with this service. I have even discussed these recommendations with my health care providers and they are all impressed too! I can’t compare it with other services as I have only tried this but I recommend. Also I think I pulled my genetics in from ancestry too which was super convenient.
Lei'a
Lei'a
LifeDNA Customer
Read More
Great source of information I was looking for a platform to make use of my existing raw data from Ancestry. I’m glad I found LifeDNA. I originally took a DNA test to learn about my roots and it’s great to know that my DNA could also play a big role in my health, diet, and even my skin. Overall, all the reports are incredible.
Shiraz Dole
Shiraz Dole
LifeDNA Customer
Read More
It is crazy how I felt that I had a strong understanding of my bodies needs, but after having my DNA analyzed by the LifeDNA team, I realized that there was so much I still did not know.
Doc Sheila Lim
Doc Sheila Lim
LifeDNA Customer
Read More
I got some pretty useful insight that helped me with my diet.
Previous
Next

*Understanding your genetics can offer valuable insights into your well-being, but it is not deterministic. Your traits can be influenced by the complex interplay involving nature, lifestyle, family history, and others.

Our reports have not been evaluated by the Food and Drug Administration. The contents on our website and our reports are for informational purposes only, and are not intended to diagnose any medical condition, replace the advice of a healthcare professional, or provide any medical advice, diagnosis, or treatment. Consult with a healthcare professional before making any major lifestyle changes or if you have any other concerns about your results. The testimonials featured may have used more than one LifeDNA or LifeDNA vendors’ product or reports.

Mitochondrial DNA Levels and Genetics

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Mitochondrial DNA Levels and Genetics

Date of Content: March 7, 2024
Written by: Harvey Talento
Reviewed by: Maarit Tiirikainen, PhD

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Mitochondria, the tiny powerhouses inside our cells, hold unique instructions for making them – the mitochondrial DNA (mtDNA). Unlike the DNA in our nucleus, which comes from both parents, mtDNA is inherited solely from your mother. But how much mtDNA do our cells have, and why does it matter?

Mitochondrial DNA levels

What is Mitochondrial DNA?

Mitochondrial DNA or mtDNA is a small circular chromosome tucked away within mitochondria. These organelles are essential for cellular function, acting like tiny factories that convert the energy from food into a usable form for our cells: the adenosine triphosphate (ATP).

Compared to the massive encyclopedia of our nuclear DNA, mtDNA is a tiny pamphlet. It contains a mere 16,569 base pairs, encoding just 37 genes. These genes might seem insignificant, but they’re crucial for the core function of mitochondria: creating cellular energy through oxidative phosphorylation.

The Importance of Quantity

Mitochondrial DNA levels or the number of mtDNA copies within a cell isn’t fixed. It varies depending on cell type, age, and even health conditions. Like muscle cells, cells with high energy demands typically have more mtDNA copies than those with lower needs. Interestingly, mitochondrial DNA levels also fluctuate throughout our lives. Studies suggest a decline in mtDNA copy number as we age, which may be linked to age-related diseases.

Changes in mtDNA abundance can reflect a reduced number of mitochondria or can be due to reduced genome copies within the mitochondria.

When Levels Go Awry

Abnormal mitochondrial DNA levels can be a red flag. Mutations in mtDNA, or a significant decrease in its copy number, have been associated with various mitochondrial diseases. These can affect different body parts, causing symptoms like muscle weakness, vision problems, and even neurological disorders.

How Genetics May Influence Mitochondrial DNA Levels

The regulation of mitochondrial DNA levels is a pivotal aspect of cellular function, influencing overall wellness. In a recent study involving a substantial cohort from the UK Biobank, specific genes in non-mitochondrial DNA were pinpointed as influencers of mtDNA abundance in the blood. Below are some of these genes, categorized by function. Certain genetic variants (SNPs) in all of these genes were associated with variation in mtDNA levels and some are highlighted below: 

Immune System Modulators

  • CXCL6: This gene, encoding a chemokine, may influence mitochondrial DNA levels through its role in immune response and inflammation. Immune system activation or modulation can impact cellular processes, potentially affecting mtDNA abundance.
  • MEF2C is known for its involvement in immune system regulation and muscle development. SNP rs114694170 inMEF2C was found to contribute to variations in mitochondrial DNA levels. 
  • ITPR3: As a gene in intracellular calcium signaling, ITPR3 may impact mitochondrial function by influencing calcium levels, which are crucial for mitochondrial processes.
  • UBE2D1: This gene, involved in protein degradation, might influence mitochondrial DNA levels by regulating the turnover of proteins crucial for mitochondrial function and maintenance.
  • STIM1, PNP, CRK, SIRPB1: These genes are associated with immune system functions and may indirectly affect mitochondrial DNA levels through their roles in immune response and cellular signaling. SNP rs1760940 in PNP is associated with elevated mtDNA levels

Cell Cycle and Cancer Regulators

  • TERT: Telomerase activity, regulated by TERT, is linked to cellular lifespan. Altered TERT activity may impact cell division and mtDNA replication, influencing overall mitochondrial DNA levels.
  • BAK1, CDK6, CDK10, SUFU, FANCI, MDFIC, JMJD1C, USP7, BIK: These genes are involved in apoptosis, cell cycle regulation, and DNA repair. Dysregulation of these processes can affect cellular health and influence mtDNA abundance. SNPs rs210143 in BAK1 and rs77236693 in MDFIC were found to be associated with mtDNA levels. 

Mitochondrial Function Regulators

  • MFN2: Critical for mitochondrial fusion, MFN2 may impact the overall mitochondrial network and mtDNA maintenance.
  • TFAM: A key player in mitochondrial DNA replication and maintenance, variations in TFAM levels can directly affect mtDNA abundance. SNP rs11006132 in TFAM is associated with elevated mtDNA levels.
  • DGUOK: This gene is involved in mitochondrial DNA synthesis, and changes in its activity can impact mitochondrial DNA levels.
  • USP30: Associated with mitochondrial quality control and turnover, USP30’s functions can influence the overall abundance of mtDNA.
  • CREB5: A transcription factor associated with mitochondrial function and energy metabolism, CREB5 plays a role in regulating mitochondrial DNA levels.
  • POLG: Responsible for replicating mitochondrial DNA, variations in POLG activity can directly impact mtDNA abundance.

Mitochondrial DNA SNPs 

While mitochondrial DNA abundance displayed associations with haplogroups, the combinations of mtDNA SNPs,  the study found similar and consistent effect sizes for the most common haplogroups in the UK Biobank. Importantly, the genetic makeup of the mitochondrial genome itself did not emerge as a major determinant of mtDNA abundance changes. This suggests that, despite genetic variations in mitochondrial haplogroups, other factors substantially govern the observed variations in mitochondrial DNA levels.

Heritability

The SNP-heritability of mtDNA abundance was estimated to be 8.3%, indicating a substantial role of inherited genetic variants in governing mitochondrial DNA levels.

In summary, several genes and their variants have been identified that play critical roles in immune response, cell cycle regulation, and mitochondrial function, collectively impacting mitochondrial DNA levels. This breakdown sheds light on the genetic landscape governing mitochondrial DNA abundance. As we unravel these genetic intricacies, there emerges a pathway for targeted investigations and potential interventions.

Non-Genetic Factors Influencing Mitochondrial DNA Levels

The same study from the UK Biobank has also identified specific non-genetic factors influencing mitochondrial DNA levels. These include sex, age, lifestyle, haplogroups, blood markers, and biochemistry markers, shedding light on the multifaceted regulation of this essential cellular component.

Sex and Age

The study revealed notable associations between sex, age, and mitochondrial DNA abundance. Male sex exhibited a consistent decrease in mtDNA abundance, pointing towards a sex-specific influence on mitochondrial dynamics. Furthermore, advancing age was strongly correlated with reduced mtDNA abundance, indicating a progressive decline over the aging process. Intriguingly, menopausal status in women added another layer to this relationship, with age affecting mtDNA abundance differently in pre and post-menopausal women. This nuanced understanding underscores the importance of considering gender-specific and age-related factors in regulating mitochondrial DNA levels.

Lifestyle Factors

Lifestyle factors emerged as significant contributors to variations in mtDNA abundance. Both increased pack years, indicative of smoking exposure, and elevated BMI were negatively associated with mtDNA abundance in both men and women. The detrimental impact of smoking and higher BMI on mitochondrial DNA levels suggests potential links between these lifestyle factors and mitochondrial health. Notably, individuals with higher mtDNA abundance experienced better and longer survival, highlighting the potential long-term implications of lifestyle choices on mtDNA dynamics.

Blood Markers

The analysis extended to blood markers, revealing intriguing associations with mtDNA abundance. White and red blood cell counts exhibited significant correlations, with white blood cell count negatively linked to mtDNA abundance. The negative association of red blood cell counts with mtDNA abundance suggests that multiple mechanisms beyond nucleated cell count contribute to the regulation of mitochondrial DNA levels. Additionally, specific blood cell types, such as neutrophils, eosinophils, basophils, and monocytes, showed negative associations with mtDNA abundance, providing further insights into the intricate relationship between hematological parameters and mitochondrial dynamics.

Biochemistry Markers

The association between mtDNA abundance and various biochemistry markers was also unveiled in the study. Markers related to inflammation, kidney function, liver function, cholesterol metabolism, ion homeostasis, vitamin D levels, and glucose metabolism displayed significant correlations with mtDNA abundance. Notably, these associations persisted even after adjusting for immune cell count, with some markers showing increased effect sizes. The findings emphasize the multi-faceted nature of factors influencing mtDNA abundance, extending beyond immune cell contributions to broader biochemical processes.

Investigating the determinants of mitochondrial DNA abundance provides a comprehensive view of the intricate interplay between genetic, lifestyle, and biochemical factors. This knowledge enhances our understanding of cellular dynamics. It opens avenues for further research into targeted interventions for maintaining mitochondrial health and mitigating the impact of various factors on mtDNA abundance.

Conditions Related to Mitochondrial DNA Mutations

While common polymorphisms (SNPs) in nuclear DNA can affect mtDNA levels, rare mutations in the mitochondrial DNA itself can lead to a variety of diseases, affecting different parts of the body. Here’s a breakdown of some:

  • Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS): This is a neurological disorder causing muscle weakness, recurrent strokes, headaches, and seizures.
  • Leber hereditary optic neuropathy (LHON): This is a genetic condition leading to progressive vision loss, often starting in young adulthood.
  • Kearns-Sayre syndrome (KSS): This syndrome affects multiple systems, causing progressive external ophthalmoplegia (drooping eyelids), heart problems, and muscle weakness.
  • Myoclonic epilepsy with ragged red fibers (MERRF): This condition causes muscle weakness, seizures, and a characteristic muscle biopsy finding.
  • Chronic progressive external ophthalmoplegia (CPEO): This condition leads to progressive weakness of the eye muscles, making it difficult to move the eyes.
  • Mitochondrial diabetes and deafness (MERRF/MELAS overlap syndrome): This syndrome combines symptoms of MERRF and MELAS, including diabetes and hearing loss, as well as muscle weakness and seizures.

About the LifeDNA Wellness Report

Understanding even complex factors like those affecting Mitochondrial DNA Levels becomes pivotal as we navigate the intricate pathways of our wellness. Imagine having personalized insights into your unique genetic traits related to your well-being. This is where the LifeDNA Wellness Report steps in. Going beyond generic advice, this tool provides tailored recommendations based on your genetic code, offering a holistic perspective on your well-being. By unlocking your genetic insights, you can take proactive steps towards a brighter, more informed lifestyle with the LifeDNA Wellness Report. Get it today!

Summary

  • Mitochondrial DNA (mtDNA) is a small yet crucial component within mitochondria, which powers cellular functions by converting food energy into ATP. Despite its size, mtDNA’s 37 genes play a pivotal role in cellular energy production through oxidative phosphorylation.
  • Dynamic mtDNA levels vary by cell type, age, and health conditions. High-energy-demand cells possess more mtDNA copies, and studies indicate a decline in mtDNA copy number with age, potentially linked to age-related diseases.
  • Abnormal mtDNA levels, marked by mutations or significant decreases, signal potential issues and may be associated with mitochondrial diseases, leading to symptoms like muscle weakness, vision problems, and neurological disorders.
  • A recent UK Biobank study identified genes like CXCL6 and TERT that influence mtDNA levels through immune modulation, apoptosis, and telomerase activity, highlighting diverse genetic factors governing mtDNA abundance.
  • The same study identified non-genetic factors like sex, age, lifestyle choices, blood markers, and biochemistry markers contributing to the intricate regulation of mtDNA abundance.
  • Exploring the determinants of mitochondrial DNA abundance offers a comprehensive view of the interplay between genetic and non-genetic factors, enhancing our understanding of cellular dynamics and paving the way for targeted interventions in maintaining mitochondrial health.

References

  1. https://www.genome.gov/genetics-glossary/Mitochondrial-DNA
  2. https://www.nature.com/articles/s41586-023-06426-5
  3. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8533111/
  4. https://link.springer.com/article/10.1007/s00439-020-02249-w

Customer Reviews

Christopher Devlin
Christopher Devlin
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I am so impressed with this service. I have even discussed these recommendations with my health care providers and they are all impressed too! I can’t compare it with other services as I have only tried this but I recommend. Also I think I pulled my genetics in from ancestry too which was super convenient.
Lei'a
Lei'a
LifeDNA Customer
Read More
Great source of information I was looking for a platform to make use of my existing raw data from Ancestry. I’m glad I found LifeDNA. I originally took a DNA test to learn about my roots and it’s great to know that my DNA could also play a big role in my health, diet, and even my skin. Overall, all the reports are incredible.
Shiraz Dole
Shiraz Dole
LifeDNA Customer
Read More
It is crazy how I felt that I had a strong understanding of my bodies needs, but after having my DNA analyzed by the LifeDNA team, I realized that there was so much I still did not know.
Doc Sheila Lim
Doc Sheila Lim
LifeDNA Customer
Read More
I got some pretty useful insight that helped me with my diet.
Previous
Next

*Understanding your genetics can offer valuable insights into your well-being, but it is not deterministic. Your traits can be influenced by the complex interplay involving nature, lifestyle, family history, and others.

Our reports and suggestions do not diagnose or treat any health conditions or provide any medical advice. Consult with a healthcare professional before making any major lifestyle changes or if you have any other concerns about your results.

Onset of Male Voice Breaking and Genetics

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Onset of Male Voice Breaking and Genetics

Date of Content: March 8, 2024
Written by: Harvey Talento
Reviewed by: Maarit Tiirikainen, PhD

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Adolescence is a period of remarkable changes, both physical and emotional. Among the most noticeable transformations for young men is the alteration of their voices.

This metamorphosis is a normal consequence of puberty, triggered by a growth spurt in the larynx, or voice box. A surge in testosterone levels fuels this development, causing the larynx to enlarge and the vocal folds to lengthen and thicken.

Onset of male voice breaking

When Does A Boy’s Voice Change?

The timing of this transformation varies from individual to individual, but it typically occurs between the ages of 12 and 16, often following a period of rapid growth. Some young men experience a gradual deepening, while others endure a more dramatic shift punctuated by frequent voice cracks.

This phase, however, is impermanent, lasting only a few months. As the body adjusts to the hormonal fluctuations and the larynx stabilizes, the voice settles into its new, deeper register.

While the voice cracks can be a source of amusement (or perhaps frustration!), it’s crucial to remember that this is a natural and expected part of development. Embracing this change as a sign of maturation and remaining patient as the voice adjusts are key during this time.

Does the Adam’s Apple Affect Voice Change?

While some researchers suggest that a larger Adam’s apple influences voice deepening and maturation, no concrete evidence to support this claim is available.

During puberty, the surge in testosterone stimulates the growth of the larynx, and the thyroid cartilage that forms the Adam’s apple becomes more prominent, particularly in males. This increased size is what creates the visible bump on the throat.

As mentioned, it is the growth of the larynx that plays a role in voice change. As the larynx gets bigger, the vocal folds (muscles within the larynx that vibrate to produce sound) also lengthen and thicken. A larger larynx and thicker vocal folds lead to a deeper vocal pitch in males.

In essence, the Adam’s apple becoming more prominent is a visible sign of the internal growth of the larynx, which can be linked to voice deepening. However, it’s important to reiterate that further research is needed to support this claim.

How Genetics May Influence the Onset of Male Voice Breaking

The onset of male voice breaking, a crucial event during puberty, is influenced by a combination of genetic and environmental factors. Several genes have been implicated in affecting the timing of male voice breaking, as identified through genetic studies such as genome-wide association studies (GWAS). Here are some key findings from a 2020 GWAS:

  • LIN28B: LIN28B is involved in regulating the timing of puberty, and it may influence the onset of male voice breaking through its role in the maturation of various tissues and organs, including the larynx. It could affect the timing of hormonal changes that trigger vocal cord growth and changes in pitch. Genetic variation in SNP rs11156429 of this gene is associated with the onset of male voice breaking.
  • KDM4C: This gene encodes a lysine-specific demethylase and may influence the onset of male voice breaking through its role in epigenetic regulation. Changes in gene expression controlled by KDM4C could affect the development of vocal cord tissues and their response to hormonal signals. SNP rs913588 in KDM4C is associated with later male voice breaking.
  • ALX4: ALX4 is involved in fibroblast growth factor (FGF) signaling, which plays a crucial role in tissue development, including craniofacial and central nervous system (CNS) development. Genetic variation in SNP rs3824915 of ALX4 is associated with the onset of the male voice breaking.
  • FGF11: This gene is involved in FGF signaling and CNS development. Changes in FGF11 expression or activity could influence the development of neural circuits involved in vocal control, potentially affecting voice modulation during puberty.
  • TFAP4: TFAP4 encodes a transcription factor involved in gene regulation. It may influence the onset of male voice breaking by modulating the expression of genes involved in vocal cord development or hormone-signaling pathways that regulate puberty.
  • SRD5A2: This gene encodes steroid 5-alpha-reductase, an enzyme involved in androgen metabolism. Changes in SRD5A2 activity could affect the metabolism of testosterone, a key hormone involved in voice deepening during puberty.
  • LEPR: LEPR encodes the receptor for the hormone leptin, which regulates appetite and metabolism. Although its direct role in the onset of male voice breaking is unclear, leptin signaling may influence hormonal pathways involved in pubertal development, potentially impacting voice changes, and SNP rs2186245 in LEPR was found to be associated with the onset of male voice breaking. 
  • SMARCAD1, BDNF, FNDC9, FAM118A, ZNF446: These genes are involved in various biological processes such as chromatin remodeling, neurodevelopment, and transcriptional regulation. While their direct roles in the onset of male voice breaking are not well understood, alterations in their expression or activity could affect the development of vocal structures or hormonal pathways involved in puberty. Genetic variations in SNPs rs2049045 of BDNF and rs6006984 of FAM118A  are associated with the onset of male voice breaking.

In summary, the onset of male voice breaking is influenced by a complex interplay of genetic factors, with multiple genes and biological pathways implicated in its regulation.

Non-Genetic Factors Influencing the Onset of Male Voice Breaking

While genetics play a major role in determining the timing of puberty and vocal changes, several non-genetic factors can influence the onset of male voice breaking. Here are some of the most well-researched ones:

What To Do When Your Voice Starts Cracking

Below are some practical tips for managing voice changes during puberty.

Hydration

  • Drink plenty of water throughout the day. This keeps your vocal cords lubricated and helps them function smoothly, reducing the risk of cracking or strain.

Vocal Hygiene

  • Avoid yelling, screaming, or straining your voice. This can irritate your vocal cords and worsen voice cracks.
  • Get enough sleep. When you’re well-rested, your voice is more likely to be strong and clear.
  • Avoid smoking and second-hand smoke. Smoking irritates the vocal cords and can contribute to voice problems.

Vocal Warm-ups (Optional)

  • Simple vocal warm-ups can help prepare your voice for speaking or singing. Humming, lip trills, and gentle scales can help improve vocal cord flexibility and reduce strain.

Communication Strategies

  • Be patient with yourself! Voice changes take time to adjust to.
  • Speak clearly and at a moderate volume. Don’t force your voice to sound lower than it naturally is.
  • If you’re giving a presentation or participating in a play, practice beforehand to get comfortable with your new voice.
  • If your voice cracks, don’t panic. Just take a deep breath and start again. Most people won’t even notice.

About the LifeDNA Wellness Report

Understanding even complex factors like the Onset of Male Voice Breaking becomes pivotal as we navigate the intricate pathways of our well-being. Imagine having personalized insights into your unique genetic traits related to your wellness. This is where the LifeDNA Wellness Report steps in. Going beyond generic advice, this tool provides tailored recommendations based on your genetic code, offering a holistic perspective on your well-being. By unlocking your genetic insights, you can take proactive steps towards a brighter, more informed lifestyle with the LifeDNA Wellness Report. Get it today!

Summary

  • Puberty triggers voice changes in adolescent boys, driven by a surge in testosterone that enlarges the larynx and thickens vocal folds, typically occurring between ages 12 and 16.
  • Although some suggest a correlation, evidence linking Adam’s apple size to voice deepening is inconclusive. Testosterone-induced larynx growth primarily drives voice changes during puberty.
  • Genetic and environmental factors influence the onset of male voice breaking, with genes like LIN28B, KDM4C, ALX4, FGF11, TFAP4, SRD5A2, LEPR, and others implicated in puberty timing and hormone signaling.
  • Nutrition, overall health, weight, endocrine disruptors, and socioeconomic status impact puberty timing, emphasizing the importance of balanced nutrition, health, and avoidance of endocrine disruptors.
  • Hydration, vocal hygiene, proper sleep, avoiding smoking, and practicing vocal warm-ups support vocal health. Patience, clear communication, and strategies for presentations help manage voice changes gracefully.

References

  1. https://health.clevelandclinic.org/voice-changes-what-can-they-tell-you-as-you-age
  2. https://www.mayoclinichealthsystem.org/hometown-health/speaking-of-health/talking-with-children-about-puberty
  3. https://my.clevelandclinic.org/health/body/24656-adams-apple
  4. https://www.nature.com/articles/s41467-020-14451-5
  5. https://www.researchgate.net/publication/268517133_Nutrition_and_pubertal_development
  6. https://pubmed.ncbi.nlm.nih.gov/11987900/
  7. https://joe.bioscientifica.com/view/journals/joe/218/2/R1.xml
  8. https://karger.com/hrp/article/93/9-10/548/167236/Socioeconomic-Status-Is-Related-to-Pubertal

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Great source of information I was looking for a platform to make use of my existing raw data from Ancestry. I’m glad I found LifeDNA. I originally took a DNA test to learn about my roots and it’s great to know that my DNA could also play a big role in my health, diet, and even my skin. Overall, all the reports are incredible.
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*Understanding your genetics can offer valuable insights into your well-being, but it is not deterministic. Your traits can be influenced by the complex interplay involving nature, lifestyle, family history, and others.

Our reports and suggestions do not diagnose or treat any health conditions or provide any medical advice. Consult with a healthcare professional before making any major lifestyle changes or if you have any other concerns about your results.

Understanding The APOE Gene Part I: The Basics

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Understanding The APOE Gene Part I: The Basics

Date of Content: March 19, 2024
Written by: Avanthika Nityanand
Reviewed by: Maarit Tiirikainen, PhD

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Disclaimer: This article is meant for informational purposes only. LifeDNA does not offer clinical analyses nor diagnoses for any conditions discussed herein or otherwise.

A few genes and their variants stand out for their profound impact on our health in the intricate web of human genetics.  The APOE (apolipoprotein E) gene is one such gene, commanding attention for its significant role in lipid metabolism and its association with various conditions. 

The APOE gene is located on chromosome 19. It is best known for its involvement in the body’s ability to process fats and for influencing conditions ranging from cardiovascular disease, affecting the functioning of the heart, to Alzheimer’s disease. The importance of the APOE gene in medical research and personalized healthcare continues to grow as we uncover more about its diverse roles in the body. 

This article delves into the APOE gene, exploring its biological functions, genetic variations, and the implications of these variations on health and disease. By understanding the APOE gene, we can better grasp the complexities of genetic influence on health and pave the way for more personalized medical interventions.

APOE gene

The Biology of APOE

The APOE gene provides instructions for making a protein called apolipoprotein E. This protein is crucial for the normal catabolism (breakdown) of triglyceride-rich lipoprotein constituents. 

In simpler terms, it plays a vital role in metabolizing and transporting fats and cholesterol throughout the body, aiding in the clearance of these substances from the bloodstream

Apolipoprotein E is a prominent component of very low-density lipoproteins (VLDL), which are precursors to the more well-known low-density lipoprotein (LDL), often referred to as “bad cholesterol.”

Read more: How Genes Influence Cholesterol Levels.

Beyond its role in lipid metabolism, APOE plays vital roles in several other biological processes, including immune regulation and neural repair. Its presence in different tissues and organs, notably the liver and brain, underscores its multifaceted role in maintaining health and its potential implications in disease processes.

Genetic Variations of APOE and Their Significance

The APOE gene exists in three principal allele forms: ε2, ε3, and ε4, creating a genetic variant that influences the protein’s structure and function. These alleles determine the individual’s APOE genotype, which can be combinations of the three alleles (e.g., ε3/ε3, ε3/ε4, ε4/ε4).

  • ε2 allele is the least common. It is associated with a decreased risk of Alzheimer’s but an increased risk of type III hyperlipoproteinemia (a condition that can lead to cardiovascular disease).
  • ε3 allele is the most common, considered the “neutral” allele, with no increased risk of Alzheimer’s or heart disease.
  • ε4 allele is associated with an increased risk of Alzheimer’s disease and cardiovascular diseases. Carrying even one ε4 allele increases the risk, and having two ε4 alleles further elevates this risk.

The distribution of these alleles varies widely across different populations and ethnic groups, affecting the prevalence of related diseases. Understanding one’s APOE genotype can offer insights into the potential health risks and the preventive measures that may be most effective.We will cover the population-specific influence of APOE in Part II.

APOE and Its Link to Diseases

The APOE gene’s association with various diseases, most notably Alzheimer’s disease and cardiovascular disease, underscores its importance in human health and disease. The link between APOE alleles and these conditions offers a window into the genetic underpinnings of disease risk and progression.

Alzheimer’s Disease (AD)

The ε4 allele of the APOE gene is the strongest-known genetic risk factor for late-onset Alzheimer’s disease, expressed in more than half of the affected patients. Individuals carrying one ε4 allele have an increased risk of developing the disease, and the risk is even higher for those with two ε4 alleles. The presence of the ε4 allele is associated with earlier onset of AD symptoms and a more rapid progression of the disease. 

In a study examining 179 senile dementia of the Alzheimer type (SDAT) patients, 154 controls, and 167 subjects with age-related memory complaints (ARMC), it was found that the APOE-ε4 allele frequency was notably higher in SDAT patients (27%) compared to controls (10%) and stable ARMC subjects (15%). Furthermore, among ARMC subjects, those who carried the ε4 allele had a three-fold increased risk of developing dementia compared to non-carriers. Additionally, older age at the onset of memory decline and lower initial scores were also associated with an increased risk of dementia in ARMC subjects.

Two years ago popular Marvel star Chris Hemsworth discovered that he had two copies of the APOE4 gene, inherited from both his mother and father. You can read about his journey of discovery here.

Conversely, the ε2 allele may offer some protection against AD, although its protective mechanism is not fully understood.

A 2020 study revealed significant protective effects of ε2 against AD-related pathologies such as amyloid plaques and Braak stage compared to e3/e3 carriers and e4 carriers. The study also noted that, unfortunately, in ε2/ε4 carriers, the risk for AD pathologies resembles that of ε4 carriers rather than ε2 carriers. 

Cardiovascular Disease (CVD)

An early study suggested that the presence of ε2 or ε4 alleles in men is associated with a heightened risk of CVD, emphasizing the potential utility of genotype information in identifying individuals prone to CVD events.

In addition to the increased risk for AD, the APOE ε4 allele is also associated with an increased risk of cardiovascular disease. This risk is partly due to the allele’s effect on lipid metabolism, leading to higher LDL cholesterol levels and potentially a significant buildup of plaques in the arteries. 

The ε2 allele, despite its protective role against Alzheimer’s, can predispose individuals to type III hyperlipoproteinemia, a condition that elevates triglyceride levels and may increase the risk of heart disease.

Beyond these well-established links, research has suggested potential associations between APOE alleles and other conditions, including diabetes, inflammatory diseases, and age-related macular degeneration, highlighting the gene’s broad impact on health.

Implications for Personalized Medicine

Understanding an individual’s APOE genotype has significant implications for personalized medicine, offering insights that can guide preventive health strategies, lifestyle adjustments, and potentially tailored medical treatments.

  • Preventive Health Strategies: Knowledge of one’s APOE status can inform personalized approaches to disease prevention. For instance, individuals with the ε4 allele might benefit from early interventions to manage cholesterol levels and reduce Alzheimer’s risk, such as regular physical activity, a heart-healthy diet, and cognitive training exercises.
  • Lifestyle Adjustments: Awareness of APOE-related risks can motivate lifestyle changes to mitigate these risks. It could include dietary modifications, increased emphasis on cardiovascular exercise, and monitoring heart health and cognitive function regularly.
  • Tailored Medical Treatments: In the future, the APOE genotype could inform the development and application of targeted therapies, especially for conditions like Alzheimer’s, where we can customize preventive and therapeutic strategies based on genetic risk factors.

Future Directions in APOE Research

Ongoing research into the APOE gene continues to uncover its complex roles in health and disease. Future studies aim to elucidate mechanisms by which APOE alleles influence disease risk and progression to develop more effective treatments. Research also explores the gene’s potential roles in other conditions, expanding our understanding of its impact on human health.

Takeaway

The APOE gene’s significance extends far beyond its role in lipid metabolism, with its variants influencing the risk and progression of Alzheimer’s disease, cardiovascular disease, and potentially other conditions. Understanding the genetic variations of APOE and their associations with diseases offers valuable insights for personalized medicine, highlighting the importance of genetics in health and disease management. 

As research progresses, the potential for targeted interventions based on APOE status holds promise for improving outcomes for individuals with increased genetic risks. Embracing the advancements in genetic research can empower individuals and healthcare providers to make informed decisions, leading to better health and well-being.

Other Gene-Related Articles Covered By LifeDNA

MTHFR

The MTHFR gene, short for Methylenetetrahydrofolate Reductase, is crucial in the body’s metabolic processes. This gene produces the MTHFR enzyme, which plays a vital role in processing amino acids, the building blocks of all proteins

Read our complete review of this gene here: Decoding The MTHFR Gene & What It Means For Your Wellness

COMT

The COMT enzyme, encoded by the COMT gene, is particularly active in the prefrontal cortex, a brain region associated with memory, decision-making, and emotional regulation. Genetic variations in the COMT gene can affect the enzyme’s activity level, influencing how quickly catecholamines are metabolized. This can directly impact neurological and psychological processes.

Read our complete review of this gene here: COMT Gene Insights: Navigating Its Influence On Wellness

References

  1. https://medlineplus.gov/genetics/gene/apoe/
  2. https://www.sciencedirect.com/science/article/abs/pii/S1552526014024996
  3. https://onlinelibrary.wiley.com/doi/abs/10.1111/j.1468-1331.1996.tb00266.x
  4. https://link.springer.com/article/10.1186/s13024-022-00574-4
  5. https://www.nature.com/articles/s41467-020-18198-x
  6. https://www.sciencedirect.com/science/article/abs/pii/S0021915000005700
  7. https://link.springer.com/article/10.1186/s13024-022-00574-4

Alternative to Affinity DNA: Why LifeDNA?

LifeDNA has emerged as a prominent option for analyzing existing DNA data from 23andMe and many other raw data sources in addition to offering our own proprietary sample collection kits. Our reports feature a combination of unique offerings and a commitment to personalized wellness. 

We offer a basic DNA raw data analysis package to kickstart your journey. Users with raw data from 23andMe, AncestryDNA, etc., can access 194+ traits across interest areas such as Nutrition, Wellness, Vitamins and Supplements, Personality, Fitness, Sleep, Methylation, and Skincare.

Further, if you do not have raw DNA data, such as from 23andMe, LifeDNA provides that too. Start your personalized wellness journey with LifeDNA’s state-of-the-art DNA kits here.

Here is why many regard LifeDNA as the best option for making the most of your 23andMe, AncestryDNA, and other raw data:

  • Holistic Approach to Wellness: Unlike many other platforms that focus strictly on health-related risks or ancestry, LifeDNA adopts a holistic approach. We analyze genetic data to offer personalized optimizations for nutrition (including a customized grocery list!), skin care, vitamins & supplements, wellness, personality & cognition, and fitness. This range lets users get a complete picture of their wellness needs based on their DNA.
  • Product Recommendations: We go beyond just providing insights. We offer specific product recommendations, skincare ingredients, or supplements tailored to an individual’s genetic profile. It makes our service actionable, allowing users to make immediate changes based on their results.
  • Data Security: At LifeDNA, we place a high emphasis on protecting user data. Our commitment to privacy ensures that users can trust the platform with their sensitive genetic information.
  • User-Friendly Reports: LifeDNA reports are easy to interpret. Our reports are designed to be accessible to the layperson without compromising on the depth and accuracy of the information.
  • Continual Updates: As genetic research evolves, so does LifeDNA’s platform. Users can expect their reports and insights to be updated with the latest scientific findings.
  • Dedicated Research and Development: At LifeDNA, we invest in research to continually refine our algorithms, ensuring that the insights provided are based on cutting-edge science.
  • Educational Resources: LifeDNA also provides ample resources for users to understand their genetic makeup better. This education-first approach demystifies the complex world of genetics, making it approachable and actionable for everyone.
  • Scientific rigor: To create an unmatched commitment to scientific rigor, LifeDNA partners with CLIA-certified, CAP-accredited, and HIPAA-compliant laboratories.

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Great source of information I was looking for a platform to make use of my existing raw data from Ancestry. I’m glad I found LifeDNA. I originally took a DNA test to learn about my roots and it’s great to know that my DNA could also play a big role in my health, diet, and even my skin. Overall, all the reports are incredible.
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*Understanding your genetics can offer valuable insights into your well-being, but it is not deterministic. Your traits can be influenced by the complex interplay involving nature, lifestyle, family history, and others.

Our reports and suggestions do not diagnose or treat any health conditions or provide any medical advice. Consult with a healthcare professional before making any major lifestyle changes or if you have any other concerns about your results.

Cortisol Levels and Genetics

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Cortisol Levels and Genetics

Date of Content: March 9, 2024
Written by: Harvey Talento
Reviewed by: Maarit Tiirikainen, PhD

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Understanding Cortisol

Cortisol is a steroid hormone, also called a glucocorticoid, produced by your adrenal glands. These glands sit on top of your kidneys. It is often called the “stress hormone” as it plays a vital role in our body’s fight-or-flight response. Cortisol has numerous important functions, but keeping us alert and energized during stressful situations is a key one.

Cortisol levels

Cortisol's Daily Rhythm

Cortisol operates on a circadian rhythm called the diurnal rhythm. This rhythm governs the fluctuations of cortisol levels throughout the day, which regulates various physiological processes.

In the early hours of the morning, cortisol levels peak, contributing to the wakefulness and alertness we experience upon rising. This surge in cortisol helps mobilize energy reserves and initiates essential bodily functions to prepare us for the day ahead. As the day progresses, cortisol levels gradually decline, reflecting the body’s diminishing need for heightened alertness.

By midday, cortisol levels begin to plateau, more subtly influencing our physiology. During this time, cortisol continues to modulate our response to stressors, aiding in the regulation of blood pressure, metabolism, and immune function.

As evening approaches, cortisol levels taper off further, signaling the body to wind down and prepare for rest. By late evening, cortisol reaches its lowest point, facilitating relaxation and promoting sleep onset. This decrease in cortisol allows other hormones, such as melatonin, to take precedence, further aiding in the transition to restorative sleep.

Understanding the diurnal rhythm of cortisol is crucial for maintaining optimal well-being. By aligning our activities with the natural fluctuations of cortisol, we can optimize our energy levels, enhance our resilience to stress, and promote overall balance in our daily lives.

When Cortisol Levels Get Out of Balance

Chronically high cortisol levels can wreak havoc on our wellness. Chronic stress, certain medical conditions, and even some medications can contribute to this imbalance. Here’s what you need to know about abnormal cortisol levels:

How Genetics May Influence Cortisol Levels

Genetic factors are crucial in shaping various physiological processes within the human body, including regulating cortisol levels. Understanding the genetic determinants of cortisol regulation sheds light on individual differences in stress response and holds implications for wellness outcomes and susceptibility to stress-related conditions.

Interestingly, the chromosome 14 region with several genes encoding for SERPIN gene family members has emerged as a significant factor in determining blood cortisol levels in many studies, such as a GWAS meta-analysis published in 2021.  Serpins (serine protease inhibitors or classified inhibitor family I4) are the largest and most broadly distributed superfamily of protease inhibitors. Serpin-like genes have been identified in animals, poxviruses, plants, bacteria, and archaea, and over 1,500 members of this family have been identified to date and they slow broad functional diversity. 

SERPINA6

SERPINA6, located on chromosome 14, encodes for corticosteroid-binding globulin (CBG), the primary carrier protein for cortisol in plasma. CBG plays a crucial role in regulating the bioavailability and transport of cortisol.

Variations within the SERPINA6 gene have been associated with alterations in CBG concentrations and activity, impacting cortisol binding and release dynamics. Notably, common single nucleotide polymorphisms (SNPs) near the SERPINA6 promoter such as rs7146221, have been identified through genome-wide association studies (GWAS) as contributors to plasma cortisol levels.

These findings highlight the significance of SERPINA6 in modulating cortisol homeostasis and its potential implications in stress-related disorders and other cortisol-associated diseases.

SERPINA1

Situated adjacent to SERPINA6 on chromosome 14, SERPINA1 encodes for α1-antitrypsin, a protease inhibitor with diverse physiological functions, including inhibiting enzymes in inflammatory processes. 

Of particular relevance to cortisol regulation, α1-antitrypsin also plays a role in modulating the activity of corticosteroid-binding globulin (CBG). By inhibiting the cleavage of the reactive center loop of CBG, α1-antitrypsin regulates the release of cortisol from its bound form.

Mutations or common genetic variations, such as rs1243171, within or close to SERPINA1 can affect its interaction with CBG, influencing cortisol availability and plasma levels. Through genetic studies, common variants and rare missense mutations within SERPINA1 have been identified as contributors to cortisol-related traits and diseases, underscoring the importance of this gene in cortisol metabolism and its potential implications for wellness and disease.

In conclusion, genetic factors, such as genetic variation affecting SERPINA1, 2, 6, and 10 genes,  exert a significant influence on cortisol regulation, impacting individual responses to stress and vulnerability to stress-related disorders. These insights not only deepen our understanding of stress physiology but also hold promise for personalized interventions targeting stress-related conditions.

Non-Genetic Factors Influencing Cortisol Levels

Normal cortisol levels follow a circadian rhythm, with levels highest in the morning and tapering off throughout the day.  However, several factors can influence cortisol levels:

  • Stress: This is the most well-known factor that can influence cortisol levels. When you experience stress, your body releases cortisol to help you cope. Chronic stress can lead to elevated cortisol levels, which can have several negative health consequences.
  • Diet: Studies have shown that a diet high in processed foods, sugar, and unhealthy fats can lead to elevated cortisol levels. Conversely, a diet rich in fruits, vegetables, and whole grains can help to keep cortisol levels in check.
  • Sleep: Lack of sleep can disrupt the normal cortisol rhythm, leading to elevated cortisol levels. Aim for 7-8 hours of sleep each night to help regulate your cortisol levels.
  • Exercise: Regular exercise can help to reduce stress and improve sleep quality, both of which can help to keep cortisol levels in check. However, excessive exercise can also lead to elevated cortisol levels.
  • Caffeine: When people consume caffeine, a common stimulant found in coffee and other drinks, it can boost their cortisol levels, especially if they’re not accustomed to its effects.
  • Alcohol: Alcohol consumption disrupts the body’s usual cortisol rhythm, leading to irregular fluctuations in cortisol levels.
  • Smoking: Smoking is known to raise cortisol levels in individuals, exacerbating their body’s stress response.
  • Medications: Certain medications, such as corticosteroids, have the potential to raise cortisol levels as a side effect, prompting the need for careful monitoring of cortisol levels.
  • Medical Conditions: Diseases like Cushing’s syndrome and Addison’s disease have a significant impact on how the body regulates cortisol, causing abnormal patterns of cortisol secretion.

How to Optimize Cortisol Levels

Here are some ways you can optimize your cortisol levels:

Diet

  • Eat a balanced, whole-food diet rich in fruits, vegetables, and whole grains. These foods provide sustained energy and help regulate blood sugar levels, reducing stress on the body.
  • Limit processed foods, sugary drinks, and unhealthy fats. These can cause blood sugar spikes and crashes, contributing to stress and potentially raising cortisol levels.
  • Consider incorporating foods rich in omega-3 fatty acids, such as fatty fish, flax, and chia seeds. Omega-3s have anti-inflammatory properties and may help manage stress.

Sleep

  • Prioritize getting enough sleep, aiming for 7-8 hours per night. A consistent sleep schedule helps regulate your body’s natural cortisol rhythm.
  • Establish a relaxing bedtime routine to wind down before sleep. This could include taking a warm bath, reading a book, or practicing relaxation techniques like deep breathing or meditation.
  • Create a sleep-conducive environment. Ensure your bedroom is dark, quiet, and cool. Limit screen time before bed as the blue light emitted from electronic devices can interfere with sleep.

Stress Management

  • Practice relaxation techniques such as deep breathing, yoga, or meditation. These techniques can help activate the body’s relaxation response, counteracting the stress response and lowering cortisol levels.
  • Engage in activities you enjoy. Taking time for hobbies and leisure pursuits can be a great way to reduce stress and improve your mood.
  • Consider spending time in nature. Studies have shown that spending time outdoors can have a calming effect and reduce cortisol levels.

Other Lifestyle Factors

  • Limit caffeine intake, especially later in the day. Caffeine can interfere with sleep and potentially elevate cortisol levels.
  • Moderate alcohol consumption. Alcohol disrupts sleep and can lead to elevated cortisol levels.
  • Consider quitting smoking if you smoke. Smoking is a stressor and can increase cortisol levels.
  • Maintain a healthy exercise routine. Regular exercise can be a great way to manage stress and improve sleep, which can help regulate cortisol levels. However, avoid excessive exercise as this can have the opposite effect.

Remember: It’s important to consult with a doctor if you’re concerned about chronically high cortisol levels. They can assess your situation, recommend the most appropriate course of action, and potentially address any underlying medical conditions.

About the LifeDNA Vitamins & Supplements Report

We all know the importance of a healthy diet, a good exercise routine, and relaxation, to cortisol levels and other bodily functions. However, sometimes, our bodies crave a little extra support. That’s where vitamins and supplements come in.

With the LifeDNA Vitamins & Supplements Report, you can gain personalized insights into which vitamins and supplements may best support your unique genetic makeup and lifestyle, helping you optimize your well-being. 

Take a step towards a better you and unlock the power of personalized wellness with the LifeDNA Vitamins & Supplements Report. Get your report today and discover how targeted supplementation can enhance overall wellness and vitality.

Summary

  • Cortisol, a steroid hormone produced by the adrenal glands, regulates our body’s response to stress, among other functions.
  • Cortisol levels follow a circadian rhythm, peaking in the morning to aid wakefulness and declining throughout the day to facilitate relaxation and sleep.
  • Abnormal cortisol levels, whether high (hypercortisolism) or low (Addison’s disease), can lead to various health issues and hormonal disorders.
  • Genetic factors, including variants in genes like SERPINA6 and SERPINA1, play a significant role in regulating cortisol metabolism and response to stress.
  • Several factors such as stress, diet, sleep, exercise, caffeine, alcohol, smoking, medications, and medical conditions can influence cortisol levels.
  • Lifestyle changes including diet, sleep hygiene, stress management techniques, and other healthy habits can help optimize cortisol levels and overall well-being.
  • Phosphorus is an essential non-metal, symbolized as P on the periodic table. It is a mineral that is crucial for biological molecules (DNA, RNA, ATP), energy transfer, cellular structure, and genetic coding. It is also vital in cycles through ecosystems, influencing food production, but overuse can lead to environmental issues like water pollution.
  • Phosphorus is mainly sourced from phosphate rocks globally, concentrated in regions like North Africa, China, Russia, and the United States.
  • In agriculture, phosphorus fertilizers enhance crop growth, but their careful management is essential to prevent environmental concerns.
  • The body needs phosphorus. It is indispensable for DNA, RNA, ATP, bone structure, and cellular functions. It also plays a role in protein synthesis, enzyme activity, pH balance, and endocrine regulation.
  • Dietary intake, calcium-phosphorus ratio, vitamin D status, renal function, medications, physical activity, age, and gastrointestinal disorders influence phosphorus levels.
  • Phosphorus also contributes to cell membrane structure, blood buffering, endocrine gland function, brain, nervous system, and muscle function.
  • Phosphorus is vital for various bodily functions, emphasizing the need for a balanced intake. However, excessive intake can lead to health complications, and maintaining optimal levels is crucial for overall well-being.

References

  1. https://www.ncbi.nlm.nih.gov/books/NBK538239/
  2. https://my.clevelandclinic.org/health/articles/22187-cortisol
  3. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3475279/
  4. https://www.ncbi.nlm.nih.gov/books/NBK470218/
  5. https://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1004474
  6. https://www.mdpi.com/2218-1989/12/1/61
  7. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5579396/#:~:text=Also%2C%20chronic%20stress,1985%5B98%5D).
  8. https://pubmed.ncbi.nlm.nih.gov/9415946/
  9. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2257922/
  10. https://www.ncbi.nlm.nih.gov/books/NBK538239/
  11. https://pubmed.ncbi.nlm.nih.gov/16337291/

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Christopher Devlin
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I am so impressed with this service. I have even discussed these recommendations with my health care providers and they are all impressed too! I can’t compare it with other services as I have only tried this but I recommend. Also I think I pulled my genetics in from ancestry too which was super convenient.
Lei'a
Lei'a
LifeDNA Customer
Read More
Great source of information I was looking for a platform to make use of my existing raw data from Ancestry. I’m glad I found LifeDNA. I originally took a DNA test to learn about my roots and it’s great to know that my DNA could also play a big role in my health, diet, and even my skin. Overall, all the reports are incredible.
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Genetic Factors Influencing Birth Weight

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Genetic Factors Influencing Birth Weight

Date of Content: March 14, 2024
Written by: Avanthika Nityanand
Reviewed by: Maarit Tiirikainen, PhD

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Birth weight (BW) is the first weight of a newborn, measured shortly after birth. This metric is crucial for assessing the newborn’s health status and potential healthcare needs. Typically recorded in kilograms or pounds, birth weight is a pivotal indicator of the baby’s growth and development in the womb and can signal various health conditions.

An optimal birthweight reflects adequate nutrition and fetal development during pregnancy, which is vital in determining a child’s immediate and long-term health outcomes. High or low birth weights can lead to different health challenges, making this measurement essential for neonatal care and future health planning.

Birth weight

What is Considered Low Birth Weight?

If the weight at birth is less than 2,500 grams (5 pounds, 8 ounces), it is termed low birthweight (LBW).  This condition can result from premature birth, where the infant is born before the 37th week of pregnancy, or from intrauterine growth restriction (IUGR), where the growth of the fetus is limited. 

LBW is a significant concern for healthcare providers as it is associated with an increased risk of infant mortality and various developmental and health problems later in life, including cardiovascular diseases, diabetes, and respiratory conditions. To improve survival rates and health outcomes of newborns, managing and preventing LBW is a priority in neonatal care.

Is Birth Weight Hereditary?

Both hereditary (genetic) and environmental factors influence birth weight. The genetic component is evident in the observed similarity in birthweight among relatives. An early study observed that birth weights of parents explain 2% of the variance in birth weights of sons and 5% in daughters.

A 2021 meta-analysis found a significant positive correlation between the BW of twins and 150 previously identified genetic variants linked to singleton BW. Furthermore, a strong genetic correlation was observed between BW in twins and singletons, with a genetic correlation (rg) value of 0.92, indicating a similar genetic architecture for BW in both groups.

Genetic Factors Influencing Birthweight

Several genetic factors can influence birth weight by affecting fetal growth and development. These factors include gene variations related to growth factors, metabolism, and the placenta’s development and function. 

A 2018 GWAS analyzed data from up to 86,577 women of European descent, part of the Early Growth Genetics (EGG) Consortium and the UK Biobank; researchers identified maternal genetic variants at ten loci (including MTNR1B, HMGA2, and CYP3A7) that are associated with offspring birth weight.

MTNR1B

MTNR1B is involved in the physiological regulation of insulin secretion and glucose homeostasis. It has implications for metabolic control within the body. Variants in the MTNR1B gene are associated with altered fasting glucose levels, increased risk of type 2 diabetes, as well as gestational diabetes. Research has also shown a link between genetic variations in MTNR1B and differences in birth weight, suggesting that the gene may influence fetal growth through its effects on maternal glucose metabolism and possibly other pathways related to melatonin signaling.

A 2015 meta-analysis of 11 GWAS involving 19,626 women of European descent pinpointed 18 SNPs for further examination in up to 13 additional studies comprising 18,319 women. One SNP within the MTNR1B gene (rs10830963) reached genome-wide significance, demonstrating a notable association with birth weight and known links to fasting glucose levels, type 2 diabetes, and gestational diabetes from previous studies. Specifically, each copy of the rs10830963 G-allele, associated with higher fasting glucose, was linked to a 31g increase in offspring birth weight. 

HMGA2

The HMGA2 (High Mobility Group AT-hook 2) gene encodes a protein that belongs to the high mobility group (HMG) of non-histone chromosomal proteins. HMGA2 is particularly notable for its involvement in developmental processes. Variants in this gene have been associated with human height, suggesting a significant role in growth. HMAGA2 has been linked to birth weight and affects adipose (fat) tissue mass, indicating its relevance in prenatal development and metabolic regulation.

The SNP rs1351394 within the HMGA2 gene, known for its role in encoding the high mobility group-A2 protein, was associated with birth weight in Ladakhi offspring. High mobility group (HMG) proteins are critical nuclear components that bind to DNA, altering chromatin structure and thus regulating gene expression. The HMGA2 gene, in particular, has been linked to variations in height and birth weight among lowland populations and differences in adipose (fat) mass in pigs. It positions HMGA2 as a biologically plausible candidate for influencing these traits also in humans, highlighting its significance in genetic studies focused on physical development.

However, genetics alone does not influence birth weight. Your genes interact with environmental and maternal factors during pregnancy. The heritability of birthweight suggests that while genetics plays a role, it is part of a complex interplay of factors that affect fetal development.

Beyond the interesting findings of genetic variants in biologically relevant genes, also so called Polygenic Risk Scores (PRS) can be developed for the association between SNPs and Birth Weight. The PRS embrace the polygenic nature common to many human traits. The LifeDNAs SNP signature for Birth Weight is based on a PRS that includes over 6,000 SNPs (top 15 shown) , derived from a large study involving over 280,000 participants.

Non-Genetic Factors Influencing Birth Weight

Non-genetic factors significantly influence birth weight, a crucial determinant of newborn health and future development. These factors vary widely and include maternal, environmental, and lifestyle elements. Understanding these can help manage or mitigate risks associated with low or high birth weights. Here are some notable non-genetic factors:

  • Maternal Health and Nutrition: The mother’s health and nutritional status before and during pregnancy are critical. Malnutrition or poor diet can lead to low birth weight, while excessive weight gain can result in a higher birth weight. Conditions like gestational diabetes and hypertension also impact birth weight.
  • Prenatal Care: Regular prenatal check-ups help monitor the health of both the mother and the fetus. Early detection and management of potential issues can influence birth weight outcomes.
  • Maternal Age: Teen mothers or those over 35 are at higher risk of having babies with low or high birth weight, respectively, due to various physiological and health-related factors.
  • Lifestyle Factors: Smoking, alcohol consumption, and drug use during pregnancy lead to reduced birth weight and adverse health outcomes for the newborn.
  • Environmental Exposures: Exposure to pollutants, toxins, and certain chemicals during pregnancy can affect fetal growth and lower birth weights.
  • Socioeconomic Status: Lower socioeconomic status is often associated with reduced access to quality healthcare, nutrition, and higher stress levels, all of which can influence birth weight.
  • Stress and Emotional Well-being: High-stress levels and poor emotional well-being during pregnancy can negatively impact birth weight, possibly due to hormonal imbalances and other physiological changes.
  • Physical Activity: Moderate physical activity during pregnancy is beneficial, but excessive or strenuous exercise might adversely affect birth weight.
  • Multiple Pregnancies: Twins or multiple births often have lower birth weights compared to single-birth pregnancies due to space and resource constraints in the womb.
  • Gestation Period: The length of the pregnancy significantly influences birth weight; preterm births usually result in lower birth weights, while post-term births might lead to higher birth weights.

What New Mothers Can Do to Ensure Healthy Birth Weight

New mothers can take several proactive steps to promote a healthy birth weight for their newborns. These include securing regular prenatal care to monitor the baby’s development, adopting a healthy diet rich in essential nutrients, and avoiding harmful substances like tobacco, alcohol, and illicit drugs. 

Managing chronic health conditions and seeking appropriate treatment for pregnancy-related issues are also vital. Additionally, staying active within healthcare provider recommendations can support healthy fetal growth. Educating themselves about pregnancy and newborn care and utilizing available resources and support systems can enhance the chances of a healthy birthweight and a positive start to their child’s life.

About the LifeDNA Report on Birth Weight

The LifeDNA Wellness Report includes Birth Weight Trait, delving into genetics’ substantial impact on fetal growth and birth weight. The report also notes that fetal genes may counterbalance maternal genetic influences, sometimes resulting in lower birth weight. It highlights the intricate genetic dance that determines birth weight, suggesting that the interplay is far from straightforward and that multiple genetic and environmental factors influence it.

The significance of understanding these genetic influences extends beyond birth. The genetic markers associated with birth weight are indicators of neonatal health. They can serve as crucial predictors for future wellness outcomes. Identifying these genetic factors opens up the possibility of personalized health insights from an early stage, allowing for targeted interventions that could mitigate health risks later in life.

References

  1. https://pubmed.ncbi.nlm.nih.gov/3506187/
  2. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8444448/
  3. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5886200/
  4. https://www.biorxiv.org/content/10.1101/034207v1.full.pdf
  5. https://www.biorxiv.org/content/10.1101/2022.05.26.493635v1.full.pdf
  6. https://www.ncbi.nlm.nih.gov/gene/8091

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It is crazy how I felt that I had a strong understanding of my bodies needs, but after having my DNA analyzed by the LifeDNA team, I realized that there was so much I still did not know.
Doc Sheila Lim
Doc Sheila Lim
LifeDNA Customer
Read More
I got some pretty useful insight that helped me with my diet.
Previous
Next

*Understanding your genetics can offer valuable insights into your well-being, but it is not deterministic. Your traits can be influenced by the complex interplay involving nature, lifestyle, family history, and others.

Our reports and suggestions do not diagnose or treat any health conditions or provide any medical advice. Consult with a healthcare professional before making any major lifestyle changes or if you have any other concerns about your results.