Genetic of Copper Metabolism: Understanding Wilson’s Disease

Jess on September 24, 2024

Why Is Copper Important For You?

Copper is an essential trace mineral needed for forming red blood cells, and maintaining healthy bones, blood vessels, nerves, and immune function. Copper is vital for several enzymes, including cytochrome c oxidase and superoxide dismutase. Cytochrome c oxidase helps in energy production at the cellular level, whereas superoxide dismutase is an antioxidant enzyme that helps protect cells from oxidative damage. Proper copper metabolism is essential for these functions to occur efficiently.

Copper is also involved in making and maintaining connective tissues. This contributes to the integrity of skin, blood vessels, and cartilage (a tissue that cushions your joints). Copper helps in the absorption of iron, thus preventing anemia, and supports brain health by participating in the synthesis of neurotransmitters. Although copper is vital for health, it is needed only in small amounts, and both deficiency and excess can lead to significant health issues. Balancing copper intake through diet which includes foods like shellfish, nuts, seeds, and whole grains, is essential for maintaining overall health. 

Despite a healthy balanced diet, if your blood report shows that you have too much copper in your system, then it is time to examine your genetics.

Genetics of Copper Metabolism 

The excess copper that may flow into your bloodstream is usually filtered out by the liver and excreted through bile. However, in some individuals, a genetic mutation impairs this process, leading to toxic levels of copper buildup. This accumulation can cause severe damage to the liver, central nervous system, and other organs, resulting in a variety of symptoms such as liver disease, neurological disorders (e.g. tremors, difficulty speaking), psychiatric disturbances, and so-called Kayser-Fleischer rings—brownish rings around the cornea of the eyes. This genetic disorder is called Wilson’s disease (WD).

Wilson’s disease is considered a rare genetic disorder, with an estimated prevalence of approximately 1 in 30,000 to 40,000 individuals worldwide. However, the carrier rate (those with one copy of the mutated gene) is higher, affecting about 1 in 90 people.

Kayser-Fleischer Rings

Kayser-Fleischer rings are copper deposits that form around the edge of the cornea in the eye, appearing as brownish or greenish rings. These rings are a vital diagnostic sign of Wilson’s disease, indicating excess copper accumulation in the body. They are typically detected through an eye examination using a slit lamp. They are most commonly associated with neurological symptoms in Wilson’s disease patients.

Hereditary Pattern of Wilson’s Disease

Wilson’s disease (WD) follows an autosomal recessive inheritance pattern, meaning an individual must inherit two copies of the mutated ATP7B gene—one from each parent (homozygous mutation)—to develop the disease. If both parents are carriers, there is a 25% chance that their child will have Wilson’s disease, a 50% chance that the child will be a carrier (with one mutated gene and one normal gene or having a heterozygous mutation), and a 25% chance that the child will inherit two normal genes. 

Individuals can also manifest WD as a compound heterozygote. A compound heterozygote is an individual who inherits two different mutant alleles of a gene, one from each parent, resulting in the genetic condition. Unlike a homozygote, with two identical mutant alleles, a compound heterozygote has two distinct mutations in the same gene. More on this below.

Carriers (heterozygous individuals) typically do not exhibit symptoms but can pass the mutated gene to their offspring. This pattern explains why Wilson’s disease can appear in families without any prior history of the condition. It makes Wilson’s disease a type of Mendelian disorder. 

ATP7B Gene

The ATP7B gene encodes a protein that helps transport excess copper from liver cells into bile for excretion. This process is vital for preventing copper accumulation in tissues, which can be toxic. Mutations in the ATP7B gene lead to impaired copper transport, causing copper to build up in the liver, brain, and other organs, which is the underlying cause of Wilson’s disease symptoms. This gene’s function is essential for maintaining copper homeostasis, and its mutations are associated with developing this potentially life-threatening disorder.

Research Updates

As explained earlier, many WD patients can manifest as compound heterozygotes. They have two different mutations in each allele inherited from each parent. The effects of these mixed mutations are not understood fully. 

In a 2020 study of five mutations found in Indian WD patients, researchers found that mutations in the regulatory domains (A595T, S1362A, and S1426I) reduced copper transport activity without affecting ATP7B’s targeting to the trans-Golgi network (part of the cell that helps distribute protein). This finding is crucial because it shows that while the ATP7B protein can still reach its proper location within the cell (the trans-Golgi network), the mutations in the regulatory domains impair its ability to transport copper effectively. The same study also showed that mutations in the ATP-binding domain (G1061E and G1101R) led to ATP7B retention in the endoplasmic reticulum and reduced protein levels. It indicates that mutations in the ATP-binding domain prevent the ATP7B protein from reaching its functional location and reduce the overall levels of the protein, leading to a more severe disruption in copper transport.

When two different mutations were co-expressed, mimicking the compound-heterozygous state, the interaction between these mutations altered ATP7B’s cellular behavior, emphasizing the importance of studying both homozygous and compound-heterozygous states to understand WD’s variable presentation better. This insight is crucial for developing targeted therapies that might restore copper transport without correcting the protein’s localization.

A 2022 study in the Pakistani population found significant clinical heterogeneity among patients, including reduced serum ceruloplasmin, chronic liver damage, and increased 24-hour urinary copper excretion. The average age of onset was 11.3 years, with 75% of patients displaying Kayser-Fleischer rings. Notably, 82.5% of the patients came from inbred families, and those with neurological symptoms were typically over 12 years old. The study identified ten variants in the ATP7B gene, including one previously reported pathogenic variant and four potentially novel synonymous variants, along with five known polymorphisms. This research enhances understanding of the clinical presentations and genotype-phenotype correlations in Pakistani WD cases, offering insights into ATP7B function and structure, which could aid in disease prognosis and family counseling.

How is Wilson’s Disease Treated?

Due to its rarity and the variability of its symptoms, Wilson’s disease is often underdiagnosed or misdiagnosed, particularly in its early stages when symptoms may mimic other more common conditions. Early detection and treatment are crucial for preventing irreversible damage.

Wilson’s disease treatment primarily focuses on reducing copper levels in the body and preventing further accumulation. The mainstay of treatment is chelation therapy, which involves medications like penicillamine or trientine that bind to copper and promote excretion through urine. 

Another approach is the use of zinc salts, which reduce the absorption of copper in the intestines. In cases of severe liver damage, a liver transplant may be necessary. Alongside medical treatment, dietary modifications are recommended to limit copper intake, including avoiding foods high in copper, such as shellfish, nuts, and chocolate.

Is Wilson’s Disease Autoimmune?

Wilson’s disease is not an autoimmune disorder. It is a genetic disorder caused by mutations in the ATP7B gene, leading to defective copper metabolism. Unlike autoimmune diseases, where the immune system mistakenly attacks the body tissues, Wilson’s disease involves the accumulation of copper due to a metabolic defect, not an immune response. However, the liver damage and neurological symptoms seen in Wilson’s disease can sometimes resemble those seen in autoimmune conditions, which can complicate diagnosis.

Summary

Wilson’s disease is a rare, inherited disorder resulting from mutations in the ATP7B gene, leading to toxic copper accumulation in vital organs. This autosomal recessive condition affects approximately 1 in 30,000 to 40,000 individuals globally. Symptoms can vary widely, making early diagnosis challenging. Treatment primarily involves chelation therapy, zinc salts, and dietary modifications to manage copper levels. Despite its severe impact, Wilson’s disease is not an autoimmune condition but a genetic disorder affecting copper metabolism. Early detection and treatment are crucial to preventing serious complications and ensuring a better quality of life for affected individuals.

References

  1. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5648646/
  2. https://www.nature.com/articles/s41598-020-70366-7
  3. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9239485/
  4. https://wilsondisease.org/living-with-wilson-disease/treatment/#:~:text=Chelation%20therapy%20drugs%20approved%20for,causing%20its%20increased%20urinary%20excretion. 

Genetics of Migraine: A Deep-Dive

Jess on September 9, 2024

Migraine are headache disorders characterized by recurrent, severe headaches often accompanied by other symptoms. They are typically one-sided and have a throbbing or pulsating quality. Migraine attacks can last from a few hours to several days and are often debilitating; impacting daily activities. Besides the headache, migraines are accompanied by sensitivity to light, sound, and smells, as well as nausea and vomiting. 

The exact cause of migraines has yet to be fully understood. Researchers believe migraines involve complex interactions between the brain, nerves, and blood vessels. Triggers for migraines can vary widely among individuals. It may include stress, hormonal changes, certain foods, and environmental factors. 

Migraines are considered a neurological disorder, and while there is no cure, treatments are available to manage symptoms and reduce the frequency of attacks. These treatments range from lifestyle changes and over-the-counter medications to prescribed drugs and preventive therapies.

Subtypes of Migraine

Migraine with Aura: This type of migraine is preceded or accompanied by sensory disturbances called “aura.” Auras typically last from 20 to 60 minutes. They can involve visual disturbances (like seeing flashing lights, zigzag patterns, or blind spots), sensory changes (such as tingling or numbness, usually in the face or hands), and rarely, difficulties with speech or language. The headache phase follows the aura, which has the typical features of a migraine, such as throbbing pain, usually on one side of the head, sensitivity to light and sound, and nausea.

Migraine Without Aura: This is the more common type of migraine and does not involve any aura phase. It is characterized by a headache that lasts from a few hours to several days, typically involving moderate to severe pain on one side of the head. Nausea, vomiting, and sensitivity to light, sound, or smell often accompany the headache. The absence of the aura phase differentiates this type from the migraine with aura.

Can Migraines Be Genetic?

Susceptibility to migraines can be genetic. Research indicates that migraines run in families, suggesting a hereditary component. If one or both parents suffer from migraines, their children are more likely to experience them as well. A 2021 twin study using data from the Swedish Twin Registry examined the genetic and environmental factors contributing to the sex differences in migraine prevalence, where women are significantly more affected than men. The study found that while migraine is equally heritable in both sexes, subtle differences in the underlying genetic component between men and women were noted. Additionally, females with a male co-twin were at a higher risk of migraines, suggesting that exposure to a masculinized prenatal environment may increase the risk of developing migraines in females.

A 2011 genome-wide association study (GWAS) involving European migraine patients identified SNP rs1835740 on chromosome 8q22.1 as significantly associated with migraine. This finding was replicated in additional cases, making the presence of a minor allele of rs1835740 the first established genetic risk factor for migraine. This genetic variant is located near genes involved in glutamate regulation and astrocyte function.

A more recent 2017 meta-analysis of 375,000 individuals identified several genes with variants linked to migraine through 38 genomic loci. Prominent genes involved include:

  1. PHACTR1 – Associated with both migraine and Cervical Artery Dissection, highlighting a shared genetic component between these conditions.
  2. KCNK5 and TRPM8 – Known ion channel proteins linked to migraine, supporting the hypothesis of migraine as a channelopathy.
  3. SLC24A3, ITPK1, and GJA1 – Genes related to ion homeostasis that may play a role in migraine susceptibility.
  4. REST, GJA1, YAP1, PRDM16, LRP1, and MRVI1 – Genes linked to oxidative stress and nitric oxide (NO) signaling, likely involved in migraine pathogenesis.

These genes are implicated in vascular and smooth muscle function, ion homeostasis, and oxidative stress, contributing to the complex mechanisms underlying migraine.

A 2022 genome-wide association study involving over 100,000 migraine cases and 770,000 controls identified 123 genetic loci associated with migraine, 86 of which were previously unknown. These findings highlight both shared and distinct genetic components for the two main migraine subtypes: with aura and without aura. Specific risk variants were identified for each subtype, while others increased susceptibility across both. The study also found that migraine-associated variants are enriched in genes related to neurovascular mechanisms, supporting the role of these pathways in migraine pathophysiology and pointing to potential new drug targets.

Genetic Testing for Migraine

Genetic testing for migraines is an emerging area of research. It is yet to be widely available as a standard diagnostic tool. Genetic testing helps identify genetic variations that may increase an individual’s susceptibility to migraines. It could lead to more personalized approaches to treatment and prevention. Currently, the genetic factors associated with migraines are not fully understood, and researchers believe the condition results from the interaction of multiple genes and environmental factors. 

Some research has identified specific gene variations linked to certain types of migraines, such as familial hemiplegic migraine, a rare form of the disorder. However, the genetic component is more complex and less well-defined for the more common types of migraines. As genomics advances, genetic testing may become a more practical tool for identifying and tailoring treatments to specific genetic makeup.

Managing Migraine During Pregnancy

Migraines during pregnancy can be challenging to manage due to the limitations on medication use. While some women may experience an improvement in their migraine symptoms during pregnancy, others may find that their migraines persist or even worsen. Hormonal changes, particularly fluctuations in estrogen levels, are believed to play a significant role in migraines during pregnancy. These changes can affect the frequency and severity of migraine attacks. For managing migraines during pregnancy, non-pharmacological treatments, such as maintaining a regular sleep schedule, staying hydrated, and managing stress, are recommended.

In some cases, certain medications may be considered safe. However, it is vital to consult a healthcare provider before taking any medication. Understanding the triggers and maintaining a healthy lifestyle can help in managing migraines during pregnancy, minimizing the impact on both the mother and the developing baby.

Can Migraine Make You Dizzy?

Migraines can cause dizziness, a condition often referred to as vestibular migraine or migraine-associated vertigo. Dizziness during a migraine can manifest as unsteadiness, lightheadedness, or a spinning sensation (vertigo). This symptom can occur before, during, or after the headache phase of a migraine attack. Vestibular migraines are less common than typical migraines. However, it can be particularly disabling due to the impact on balance and spatial orientation. 

The exact cause of dizziness in migraines is not fully understood. However, researchers believe it to be related to abnormal brain activity affecting the areas responsible for balance and coordination. Like other migraine symptoms, stress, certain foods, or hormonal changes can trigger dizziness. Managing vestibular migraines often involves a combination of lifestyle changes, medications, and, in some cases, vestibular rehabilitation therapy.

Can Migraine Cause Nausea?

Nausea is a common symptom associated with migraines. Many people who experience migraines report feeling nauseous during an attack, and this can sometimes lead to vomiting. During a migraine attack, the brainstem may become sensitized to specific triggers, leading to the sensation of nausea. 

This symptom can be particularly distressing and can exacerbate the overall discomfort of a migraine attack. Treating nausea in migraines often involves the use of antiemetic medications, which can help relieve nausea and prevent vomiting. In some cases, managing the migraine itself with appropriate pain relief and preventive strategies can reduce the occurrence of nausea as well.

Can Migraine Cause a Seizure?

While migraines and seizures are distinct neurological conditions, there is some evidence to suggest a link between the two. This phenomenon is called migralepsy, where a seizure occurs either during or shortly after a migraine attack. However, this condition is considered rare. Migraines and seizures may share some common underlying mechanisms, such as abnormal brain activity and changes in neural excitability. 

People who experience both migraines and seizures are known to have migraine with aura more often than those who have migraines without aura. In cases where migraines lead to seizures, the treatment approach may need to address both conditions simultaneously, involving a combination of medications that can help prevent both migraines and seizures. It’s important for individuals who experience such symptoms to seek medical advice for proper diagnosis and management.

Takeaway

Migraines are a complex neurological disorder characterized by recurrent, severe headaches often accompanied by symptoms such as sensitivity to light, sound, and nausea. They can be triggered by various factors, including stress, hormonal changes, and certain foods, and may last from a few hours to several days. There are different subtypes, including migraines with and without aura, and they can have a genetic component, with certain genes and their variants linked to migraine susceptibility. While there is no cure, treatments ranging from lifestyle changes to medications can help manage symptoms. Migraines may also lead to other symptoms like dizziness and nausea and, in rare cases, can be associated with seizures. Managing migraines, especially during pregnancy, requires careful consideration of treatment options to minimize risks.

References

  1. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8915724/ 
  2. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2948563/
  3. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8837554/
  4. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7948327/

Estimating Biological Age Using Circulating Biomarkers

Jess on September 7, 2024

A 2023 UK Biobank (UKB) based study published in the journal Communications Biology focuses on enhancing the estimation of biological age. Biological age is the equivalent age within the same-sex population corresponding to an individual’s mortality risk, with values ranging from 20 years younger to 20 years older than chronological age.

This practical and cost-efficient method provides an accessible way for the general population to estimate an improved measure of biological age using readily available blood markers. In this article, we will explore various aspects of the study and examine its implications for us.

Biological vs. Chronological Age

Biological age and chronological age are two different concepts used to measure aging and health status:

Chronological Age

It is the actual time a person has lived, measured in years from birth. Chronological age does not account for the variability in health, vitality, or physiological state among individuals of the same age.

Biological Age

Biological age, also known as physiological age, reflects the condition of an individual’s body and overall health based on various biomarkers and physical characteristics. It considers factors such as the condition of cells, tissues, and organs. Lifestyle choices, diseases, and overall health can influence it.

For example, a 50-year-old with a healthy lifestyle and minimal disease may have a biological age of 40, indicating their body functions more like that of an average 40-year-old. It helps estimate how much aging has affected an individual’s body and is often associated with the extent of risk of age-related diseases and mortality.

In a retrospective analysis of 2950 critically ill adults, those who were biologically older than their actual age had a significantly higher risk of mortality. This increased risk was especially pronounced in patients with chronic conditions such as cardiovascular disease, renal failure, or diabetes, and persisted even after accounting for the severity of illness and comorbidities.

A 2023 research study identified 35 modifiable factors significantly associated with the age gap, including pulmonary function, body mass, grip strength, and metabolic rate. Genetic analysis highlights CST3 as a key gene in biological aging, suggesting new preventive strategies and therapeutic targets for aging-related conditions.

The protein encoded by CST3Cystatin C is commonly used as a biomarker for kidney function, as its levels are relatively constant and not significantly influenced by factors such as muscle mass, making it a more reliable indicator of glomerular filtration rate than creatinine. Additionally, Cystatin C  has been associated with various health-related outcomes, including cardiovascular disease, neurodegenerative disorders, and metabolic conditions.

UKB Study Background

Biological age is estimated through its impact on mortality- the ultimate measure of biological and functional decline. The current challenge lies in accurately estimating biological age. A more accurate estimate can help evaluate the effectiveness of aging interventions and improve predictions of age-related conditions. Over the years, various biomarkers have been used to estimate biological age. Some popular biological age biomarkers are telomere length, DNA methylation, wearable sensor data, and blood-based clinical biomarkers. 

Blood biomarkers, in particular, have advantages in terms of cost and scalability compared to omics-based estimates like telomere length and epigenetic clocks. Despite these benefits, blood-biomarker-based biological age estimation studies are limited and require further validation. This study addresses this gap by utilizing a large dataset of 306,116 participants from the UK Biobank of ages38 to 73, with a mean age of 56.3 years, and an overall mortality rate of 6.1%.

The researchers in this study employed machine learning techniques. They demonstrated that predictive accuracy remains high even when fewer biomarkers were included in imputation techniques. The final model estimated biological age values ranging from 20 years younger to 20 years older than chronological age, demonstrating a practical and cost-efficient method for assessing biological age accessible to the general population.

Machine Learning Models Used to Study Biological Age

Let’s digress a little and briefly review some common machine learning models used in the study of biological age so that we can understand the true significance of the study.

Elastic-Net Penalized Cox Proportional-Hazards Model: This model uses two regularization techniques to improve prediction accuracy by balancing simplicity and complexity. It helps predict how long people will live on the basis of their blood test results.

Random Survival Forest (RSF): This model uses many decision trees working together to predict survival outcomes, capturing complex patterns in the data to estimate biological age.

PhenoAge Model: This model uses blood test results to estimate biological age by predicting our dying risk. This helps understand how old a person’s body is compared to their age.

Gradient-Boosted Trees: This method builds several decision trees one after another, each correcting the mistakes of the previous one, to make more accurate predictions about a person’s biological age based on their health data.

Note: A decision tree is a popular tool used in machine learning. It makes decisions by splitting data into branches based on different criteria, resembling a tree structure, to reach conclusions.

This year (2024), The Department of Big Data in Health Science School of Public Health in China, published a paper describing the development and validation of a new measure of biological age, called Balanced-AGE, using physical health examination data from the Chinese population. This tool was effective across various subgroups, including diverse ages, and sexes, as well as smoking, and alcohol consumption statuses.

The study also found that underweight individuals, smokers, and drinkers experienced higher age acceleration, suggesting that Balanced-AGE could be a valuable tool for health assessment and management in the elderly population.

UKB Study Results

This analysis demonstrates that circulating biomarkers can form the basis of an accurate and low-cost measure of biological age through a simple formula. The study used an Elastic-Net-derived model with 25 biomarkers to estimate biological age, showing a range of 20 years younger to 20 years older than chronological age. This model outperformed the PhenoAge model, with an 11% increase in predictive value, attributed to the large training dataset and the inclusion of biomarkers like cystatin C and red blood cell distribution width. The model’s real-world applicability is underscored by its ability to maintain predictive accuracy even with imputed values for unmeasured biomarkers, making it practical for varied clinical settings.

This study not only aligns with existing research on biological age estimation but also emphasizes practical value. Aging clocks can be cost-effectively implemented using commonly available blood tests. The analysis showed that the model could distinguish between high-risk and low-risk individuals, even among younger and healthier populations. Despite limitations like the UK Biobank’s healthy volunteer bias and homogeneous population, the model’s performance suggests it can generalize beyond the UK. The findings highlight the importance of identifying biological aging to inform interventions that maximize health span and reduce healthcare pressures in aging populations.

Reference

  1. https://link.springer.com/article/10.1007/s11739-023-03397-3#:~:text=Biological%20age%20is%20increasingly%20recognized,admission%2C%20can%20predict%20hospital%20mortality.
  2. https://onlinelibrary.wiley.com/doi/full/10.1111/acel.13995
  3. https://www.sciencedirect.com/science/article/pii/S2589004224001123 

G6PD Deficiency: A Deep Dive Into The Genetics

Jess on July 15, 2024

What is G6PD Deficiency

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a genetic disorder that primarily affects red blood cells, which carry oxygen from the lungs to tissues in the body. By making NAPDH, this enzyme is also crucial in protecting red blood cells from oxidative damage. Mutations and common genetic variations in the G6PD gene can lead to a deficiency of the G6PD enzyme. When the G6PD enzyme levels and/or activity are low, red blood cells can break down prematurely, known as hemolysis. 

Hemolysis can lead to hemolytic anemia, characterized by fatigue, jaundice, dark urine, and shortness of breath. G6PD deficiency is common in regions where malaria is prevalent, such as Africa, the Mediterranean, and Asia, where the inherited G6PD deficiency can offer protection against malaria. G6PD is also plays a key role in making ribose-5-phosphate, the building block of DNA and RNA.

How is G6PD Deficiency Inherited?

People inherit G6PD deficiency in an X-linked recessive pattern. The G6PD gene is on the X chromosome, one of the two sex chromosomes. Males have one X and one Y chromosome, while females have two X chromosomes. Males with a mutation in the G6PD gene on their single X chromosome will have G6PD deficiency. Females with one mutated G6PD gene are typically carriers and usually do not show symptoms because they have a second, normally functioning copy of the gene. However, if a female has mutations in both copies of the G6PD gene, she will exhibit symptoms of the deficiency. This mode of inheritance explains why G6PD deficiency is more common and often more severe in males than females.

Note: G6PD deficiency falls into a category of genetic conditions called Mendelian disorders. Mendelian disorders are genetic conditions that arise from mutations in a single gene. These conditions follow inheritance patterns first described by Gregor Mendel. They can be categorized as autosomal dominant, autosomal recessive, X-linked dominant, and X-linked recessive categories based on how the mutated gene is inherited and expressed. Other examples of Mendelian disorders are cystic fibrosis and Marfan syndrome. We will review these in more depth in a future article.

Common G6PD Mutations

Known G6PD mutations are genetic alterations in the G6PD gene that lead to varying degrees of enzyme deficiency. These mutations can result in the malfunctioning or reduced activity of the G6PD enzyme.. Researchers have identified 400 distinct G6PD mutations,  each affecting the enzyme’s activity to different extents.

  1. G6PD A- (202A/376G)
    • Prevalence: Common in African populations.
    • Severity: Moderate deficiency (Class III).
    • Clinical Manifestations: Intermittent hemolytic episodes, usually triggered by infections or certain drugs.
  1. G6PD Mediterranean (563C>T)
    • Prevalence: Common in Mediterranean regions (e.g., Italy, Greece).
    • Severity: Severe deficiency (Class II).
    • Clinical Manifestations: Acute hemolytic episodes, often triggered by fava beans, certain medications, or infections.
  1. G6PD Canton (1376G>T)
    • Prevalence: Found in East Asian populations.
    • Severity: Severe deficiency (Class II).
    • Clinical Manifestations: Similar to G6PD Mediterranean, with susceptibility to hemolysis due to oxidative stress.
  1. G6PD Kaiping (1388G>A)
    • Prevalence: Predominantly in Chinese populations.
    • Severity: Moderate to severe deficiency (Class II/III).
    • Clinical Manifestations: Acute hemolytic anemia triggered by infections or drugs.
  1. G6PD Mahidol (487G>A)
    • Prevalence: Common in Southeast Asian populations.
    • Severity: Moderate deficiency (Class III).
    • Clinical Manifestations: Mild to moderate hemolysis under oxidative stress.
  1. G6PD Viangchan (871G>A)
    • Prevalence: Southeast Asia, including Laos, Thailand, and Vietnam.
    • Severity: Severe deficiency (Class II).
    • Clinical Manifestations: Acute hemolytic episodes due to oxidative stress triggers.

Genetic Connection with Other Traits/Conditions

Malaria

Interestingly, G6PD deficiency and malaria resistance have a link. RBCs with low G6PD activity offer a hostile environment to the malaria parasite growth and therefore an advantage to G6PD deficiency carriers. Individuals with this deficiency are less likely to suffer from severe forms of malaria, which has influenced the prevalence of the G6PD mutation in malaria-endemic regions. 

Given this overlap, a systematic review aimed to assess the protective association between G6PD deficiency and malaria. The results show a negative association between G6PD deficiency and uncomplicated falciparum in Africa (and) among heterozygotes but not in Asia or among homo/hemizygous individuals. The study suggests that G6PD deficiency may offer protection against uncomplicated malaria in African countries, primarily in heterozygous individuals, but not against severe malaria.

Heart Conditions

The role of G6PD deficiency, one of the most common inborn enzyme disorders is debated in cardiovascular diseases (CVDs) . Researchers have considered G6PD individuals as protected against CVDs. However, recent evidence suggests that G6PD deficiency may actually increase CVD risk. Studies using cellular, animal, and human models have produced conflicting results. According to a 2021 review study, the G6PD enzyme is crucial in antioxidant defense and the balance between oxidants and antioxidants within blood vessels. Hence, its deficiency may lead to vascular dysfunction, contributing to atherosclerosis onset and progression. 

A research study published this month (July 2024) has confirmed this notion. The study concluded that genes involved in glycolysis (a vital step in respiration), which includes G6PD among four other genes, play crucial roles in the progression of acute myocardial infarction and could serve as potential immunotherapeutic targets. 

Psychotic Conditions

A 2023 study unraveled a link between hemolysis and some psychotic conditions. Among the reviewed literature (eight case reports and a case series of 29 patients), 40% of cases in the series presented with catatonia, and case-control studies have noted a higher prevalence of G6PD deficiency in catatonic schizophrenia. 

Interesting Current Research

A case report and review study published in April this year (2024) demonstrated a protective effect of G6PD mutations against the complications of aluminum phosphide (ALP) poisoning. ALP poisoning is common in occupations that extensively use pesticides and rodenticides. This is illustrated by a case report of a 30-year-old male with G6PD deficiency who, despite severe ALP poisoning, showed rapid? clinical improvement with supportive measures and transfusion. 

A study published in June this year (2024) aimed to evaluate serum miRNAs (micro RNA) as biomarkers for detecting subclinical hemolysis during the nonacute phase of G6PD deficiency. Participants were patients with severe or moderate G6PD Viangchan (871G > A) deficiency and normal G6PD individuals as controls. Results showed that serum levels of miR-451a, miR-16, and miR-155 were significantly high in patients with severe G6PD deficiency. A “3D analysis” of these miRNAs effectively distinguished G6PD-deficient individuals from healthy ones, suggesting their potential as biomarkers for nonhemolytic phases of G6PD deficiency. Thus, miRNAs could serve as additional biomarkers to detect non-apparent hemolysis in the nonacute phase of this condition.

What are G6PD Deficiency Symptoms

Symptoms of G6PD deficiency primarily arise due to hemolytic anemia, which can be acute or chronic. Acute hemolytic episodes can start due to certain medications (like antimalarials and sulfa drugs), infections, or ingestion of fava beans (favism). During such episodes, individuals may experience sudden fatigue, jaundice (yellowing of the skin and eyes), dark urine, rapid heart rate, and shortness of breath. In severe cases, hemolytic anemia can lead to hemoglobinuria (presence of hemoglobin in the urine) and back pain due to kidney involvement. Although less common, chronic hemolytic anemia can lead to ongoing fatigue, pallor, and splenomegaly (enlarged spleen). Neonatal jaundice is another symptom that can occur in newborns with G6PD deficiency, requiring prompt medical attention.

Managing G6PD Deficiency

Managing G6PD deficiency involves avoiding known triggers that can cause hemolysis. It includes certain medications (like sulfonamides, aspirin, and nonsteroidal anti-inflammatory drugs), foods (especially fava beans), and environmental factors (like mothballs containing naphthalene). Individuals must be aware of these triggers and advised to inform healthcare providers of their condition before receiving new medications. Regular monitoring of blood counts may be necessary for those with chronic hemolytic anemia. During acute hemolytic episodes, treatment may involve stopping the offending trigger, supportive care with hydration, and, in severe cases, blood transfusions. Affected individuals and their families need genetic counseling to understand the inheritance pattern and potential risks for offspring.

References

  • https://medlineplus.gov/genetics/gene/g6pd/
  • https://pubmed.ncbi.nlm.nih.gov/15506519/
  • https://www.nature.com/articles/srep45963
  • https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8110402/
  • https://bmccardiovascdisord.biomedcentral.com/articles/10.1186/s12872-024-03989-7
  • https://www.tandfonline.com/doi/abs/10.1080/15622975.2023.2290563
  • https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11128147/
  • https://www.nature.com/articles/s41598-024-67108-4

How Genetics Influence Your Hair Texture

Jess on July 6, 2024

Disclaimer: This article is for informational purposes only and is not intended to diagnose any conditions. LifeDNA does not provide diagnostic services for any conditions mentioned in this or any other article.

Hair texture varies widely among individuals, and much of this diversity can be traced back to human genetics. Read on to explore the different types of hair texture, and the science behind what makes hair straight, wavy, or curly, and uncover the genetic factors that play a pivotal role in determining the locks you see in the mirror every day. 

What is Hair Texture?

Hair texture refers to the physical characteristics of hair strands, including their shape, curl pattern, and thickness. Scientifically, hair texture is primarily determined by the shape of the hair follicle and the distribution of a protein called keratin. Hair follicles can be round, oval, or asymmetrical, and this shape influences whether hair grows straight, wavy, or curly. 

Straight hair typically comes from round follicles, which produce strands that grow smoothly and evenly. Wavy hair is associated with slightly oval follicles that cause the hair to bend and form gentle waves. Curly and coiled hair results from more irregularly shaped follicles, leading to tighter curls or spirals. 

Genetics plays a crucial role in determining hair texture. The texture of a person’s hair is not just a matter of chance but a reflection of their unique genetic makeup. Understanding these genetic influences can help individuals better appreciate the natural qualities of their hair and how it integrates into their overall lifestyle and appearance.

How Do You Test for Hair Texture?

Testing for hair texture involves several methods, each providing insights into the physical characteristics of the hair. These methods are useful for understanding the genetic factors influencing hair texture which can impact daily habits and lifestyle choices.

  1. Visual and Manual Assessment: The most straightforward method involves visually examining the hair’s appearance and manually assessing its texture. This includes checking whether the hair is straight, wavy, curly, or coiled. By gently stretching a hair strand, one can also determine its elasticity—curly hair tends to be more elastic compared to straight hair. This basic method provides a quick, although less precise, evaluation of hair texture.
  2. Microscopic Analysis: Scientists use microscopes to analyze hair follicles for a more detailed examination. This method involves taking samples of hair and examining them under high magnification to observe the shape of the follicle and the cross-sectional profile of the hair shaft. This can reveal whether the hair follicle is round, oval, or asymmetrical, which correlates with different hair textures.
  3. Chemical Testing: This method involves applying specific chemicals to the hair to measure its response, such as the ability to hold a curl or straighten out. The results can provide information about the density and distribution of disulfide bonds in the hair, which affect its texture.

These methods offer various insights into hair texture, helping individuals understand the genetic and structural factors that influence their hair type.

Is Hair Texture Genetic?

Hair texture is largely determined by genetics. Scientific studies have shown that the shape and structure of hair follicles, which dictate whether hair is straight, wavy, curly, or coily, are influenced by specific genetic factors. 

Several key genes are involved in influencing hair texture. The EDAR gene affects hair thickness and has variants associated with the straighter, thicker hair commonly found in East Asian populations. Additionally, the TCHH gene encodes for a protein critical to the inner root sheath of hair follicles, playing a role in hair curliness.

Understanding the genetic basis of hair texture can help individuals appreciate the unique characteristics of their hair and make informed decisions about their hair care routines. By recognizing that hair texture is rooted in one’s genetic makeup, people can better tailor their hair care practices to enhance and maintain the health and beauty of their natural hair.

Other Factors Influencing Hair Texture

A combination of genetic, physiological, and environmental factors influences hair texture. Understanding these influences can provide insight into why hair appears and behaves differently from one person to another.

Keratin Proteins

Hair texture is affected by keratin, a protein that makes up the majority of the hair structure. The distribution and composition of keratin proteins determine the hair’s strength and elasticity. Variations in keratin production can lead to differences in hair texture, with higher levels of keratin often resulting in straighter hair and different structural configurations contributing to curliness.

Disulfide Bonds

The presence and density of disulfide bonds — chemical bonds that link keratin proteins — are crucial in determining hair texture. Curly hair typically has a higher density of these bonds, which causes the hair to curl and bend. In contrast, straight hair has fewer disulfide bonds, resulting in a smoother, straighter appearance. The chemical balance of these bonds can be influenced by various factors, including hair care products and treatments.

Hormones

Hormonal changes can also impact hair texture. For instance, hormone fluctuations during puberty, pregnancy, or menopause can alter the hair’s growth pattern and texture. Hormones like androgens can affect the size of hair follicles and the rate of hair growth, potentially changing hair texture temporarily or permanently.

Age

As people age, their hair texture can change due to shifts in hormonal levels and changes in the hair follicle’s size and shape. Typically, hair may become finer and less elastic with age, leading to alterations in its texture.

Health and Nutrition

Overall health and nutritional status play a role in hair texture. Deficiencies in vitamins and minerals, such as iron, biotin, and zinc, can lead to changes in hair texture and health. Adequate nutrition supports the maintenance of healthy hair, whereas a poor diet can result in brittle or uneven texture.

Environmental Factors

External factors, including exposure to heat, humidity, and chemical treatments, can influence hair texture. Frequent use of heat styling tools or chemical treatments can alter the hair’s natural texture, making it more prone to damage and changing its appearance over time.

Hair Care Products

The use of certain hair care products can affect texture. Products with high alcohol content can dry out the hair, leading to a rougher texture. Conversely, moisturizing conditioners and serums can enhance softness and manageability.

By considering these factors, individuals can better understand how their hair texture is shaped and how various aspects of their lifestyle and environment contribute to their hair’s unique characteristics.

What is the Healthiest Hair Texture?

There is no universally “healthiest” hair texture, as hair health is more about its condition than its texture. However, healthy hair is characterized by certain key attributes regardless of whether it is straight, wavy, or curly.

Healthy hair typically exhibits smoothness, strength, and elasticity. This means that the hair cuticle, the outer protective layer, should be intact and lie flat, allowing light to reflect off the surface and give the hair a natural shine. Healthy hair is also resilient, showing minimal breakage or split ends, and has good elasticity, meaning it can stretch without breaking.

Adequate intake of essential nutrients such as vitamins A, C, D, and E, biotin, and minerals such as zinc and iron supports optimal hair health. Regular conditioning and avoiding excessive heat or chemical treatments help maintain the hair’s moisture balance and structural integrity.

While hair texture is largely genetic, well-nourished and properly cared-for hair of any texture can be considered healthy. Maintaining a healthy scalp and using appropriate hair care products tailored to one’s specific hair type and needs is crucial for overall hair health.

Can Hair Texture Change Over Time?

Hair texture can change over time due to various factors, even though the underlying genetic predisposition remains the same. 

  • Hormonal changes are a significant influence. During puberty, pregnancy, or menopause, fluctuations in hormone levels can alter the size and shape of hair follicles, which can lead to changes in hair texture. For instance, some people may notice their hair becoming curlier or straighter during these periods.
  • Aging also impacts hair texture. As individuals age, the production of certain proteins,  including keratin, decreases, and hair follicles may become smaller and less active. This can result in finer, more brittle, and less elastic hair.
  • Health and lifestyle factors play a role as well. Nutritional deficiencies, stress, and exposure to environmental factors like heat and chemicals can affect hair texture. For example, poor diet or excessive heat styling can lead to drier, more brittle hair.
  • Medical treatments and conditions can also contribute to changes in hair texture. Certain medications and treatments, such as chemotherapy, can alter hair’s growth pattern and texture temporarily or permanently.

Overall, while genetics set the baseline for hair texture, various factors can influence how it evolves over a person’s lifetime.

Types of Hair Textures

Understanding the different types of hair textures can help individuals better manage and care for their hair. There are generally four main types of hair textures, each with distinct features:

  • Straight Hair (Type 1): Straight hair has a round follicle shape, which allows the hair to grow smoothly and evenly. It tends to lie flat against the scalp and has a sleek appearance. Straight hair is less prone to tangling and frizz compared to other types. However, it can sometimes appear oily more quickly because the natural oils from the scalp travel down the hair shaft more easily.
  • Wavy Hair (Type 2): Wavy hair is characterized by a gentle S-shaped pattern. This texture results from a slightly oval or asymmetrical follicle shape that creates natural waves. Wavy hair often has more volume than straight hair and can be prone to frizz, especially in humid conditions. The wave pattern can range from loose, beachy waves to more defined, bouncy waves, depending on the individual’s specific hair structure.
  • Curly Hair (Type 3): Curly hair forms tight curls or ringlets and is produced by a more oval or asymmetrical follicle shape. The natural curl pattern can vary from soft curls to tight coils. Curly hair is typically more prone to dryness and frizz due to the twists and turns in the hair shaft, which can make it harder for natural oils to travel down the hair. Proper moisturizing and regular conditioning are essential for maintaining the health and definition of curly hair.
  • Coily Hair (Type 4): Coily hair, also known as afro-textured hair, features very tight curls or zigzag patterns. This type of hair has the most pronounced curl pattern and can range from soft, fluffy coils to more compact, tight curls. Coily hair is often the most delicate and prone to breakage due to its tightly coiled nature. It requires intensive moisture and care to maintain its elasticity and prevent dryness.

Each hair type comes with its own unique set of characteristics and care needs. Understanding these types can help individuals tailor their hair care routines to maintain health and manageability. By recognizing their hair type, individuals can make informed choices about products and routines that best suit their specific needs, contributing to healthier, more manageable hair.

How to Care for Different Hair Textures

Caring for different hair textures requires understanding the unique characteristics and needs of each type. Whether your hair is straight, wavy, curly, or coily, the right care routine can enhance its natural beauty and health. Here’s a guide to caring for each hair texture based on scientific facts and data.

Straight Hair (Type 1)

Straight hair has a round follicle shape, which allows natural oils to travel easily from the scalp down the hair shaft. This can make straight hair more prone to becoming oily quickly. 

  • Shampoo Regularly: Use a gentle, sulfate-free shampoo to remove excess oil and prevent buildup. Washing every 2 to 3 days can help keep the hair clean without stripping it of essential oils.
  • Lightweight Conditioner: Apply a lightweight conditioner to the ends to prevent tangling without weighing the hair down. Avoid the scalp area to prevent excess oiliness.
  • Heat Protection: Use a heat protectant spray before using styling tools like flat irons or blow dryers to prevent heat damage.

Wavy Hair (Type 2)

Wavy hair has an S-shaped pattern and tends to be more prone to frizz. It has a slightly oval follicle shape, which creates natural waves.

  • Moisturizing Shampoo and Conditioner: Choose products that provide hydration to enhance waves and reduce frizz. Look for ingredients like glycerin and natural oils.
  • Avoid Over-Washing: Washing wavy hair 2 to 3 times a week helps maintain natural oils and moisture balance.
  • Styling Products: Use lightweight mousses or gels to define waves without stiffening hair. Scrunch the product into damp hair and let it air dry or use a diffuser.

Curly Hair (Type 3)

Curly hair forms tight curls or ringlets due to its oval or asymmetrical follicle shape. It is more prone to dryness because the natural oils struggle to travel down the hair shaft.

 

  • Hydrating Shampoo and Conditioner: Use sulfate-free, hydrating products to prevent dryness and maintain curl definition. Ingredients like shea butter and coconut oil are beneficial.
  • Deep Conditioning: Regular deep conditioning treatments, at least once a week, help to nourish and moisturize curls.
  • Gentle Detangling: Use a wide-tooth comb or fingers to detangle curly hair wet and conditioned to prevent breakage.

Coily Hair (Type 4)

Coily hair, or afro-textured hair, has very tight curls or zigzag patterns. This hair type has the most pronounced curl pattern and is highly prone to dryness and breakage.

  • Moisturizing and Nourishing Products: Use rich, creamy shampoos and conditioners to maintain moisture. Look for products with natural oils, butters, and proteins.
  • Leave-In Conditioners: Apply leave-in conditioners or hair creams to keep the hair hydrated and manageable.
  • Protective Styling: Incorporate protective styles like braids, twists, or buns to minimize manipulation and reduce breakage. Cover hair with a satin or silk scarf at night to reduce friction and moisture loss.

General Tips for All Hair Types

  • Avoid Heat Damage: Minimize the use of heat styling tools and always use a heat protectant.
  • Regular Trims: Trim hair regularly to prevent split ends and maintain healthy growth.
  • Balanced Diet: Maintain a diet rich in vitamins and minerals, such as biotin, vitamin E, and omega-3 fatty acids, to support healthy hair from the inside out.

By tailoring hair care routines to suit their specific texture, individuals can achieve healthier, more manageable hair. Understanding the unique needs of each hair type, influenced by genetic factors, allows for better care and maintenance, enhancing the natural beauty of their hair.

Why Choose LifeDNA

With over 200 DNA-based trait reports available across our Wellness, Vitamins and Supplements, Fitness, Nutrition, Sleep, Personality and Cognition, and Skincare Reports, LifeDNA provides a holistic approach to your wellness and beauty journey. Explore also our premium Aging Report, Methylation Genes Report, and Detoxification Genes Report for even deeper insights.

Start your journey to the even more beautiful you today. Avail yourself of LifeDNA’s plans and gain access to invaluable genetic insights that will guide your skincare choices and overall wellness. Discover the power of personalized care and make informed decisions for a more vibrant, confident you. Dive into LifeDNA’s reports and transform your skincare routine based on the science of your unique genetics.

References

  1. https://www.medicinenet.com/what_are_the_four_types_of_hair/article.htm
  2. https://my.clevelandclinic.org/health/body/23204-keratin
  3. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9836136/#:~:text=Stereomicroscope%20is%20usually%20used%20to,%2C%20shaft%20profile%2C%20and%20cuticle.
  4. https://www.sciencedirect.com/topics/biochemistry-genetics-and-molecular-biology/disulfide-bond#:~:text=Disulfide%20bonds%20are%20covalent%20interactions,covalent%20link%20between%20polypeptide%20strands.
  5. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7432488/
  6. https://academic.oup.com/hmg/article/17/6/835/601141
  7. https://medlineplus.gov/genetics/gene/edar/
  8. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6894537/
  9. https://www.livingproof.com/hair-101/how-to-tell-if-your-hair-is-healthy.html
  10. https://www.ouidad.com/blogs/curl-talk/hair-textures-101-changes-in-hair-texture#:~:text=Changes%20in%20hair%20texture%20happen,texture%20may%20change%20over%20time.
  11. https://www.breastcancer.org/treatment-side-effects/menopause/hair-changes
  12. https://www.nm.org/healthbeat/healthy-tips/Quick-Dose-Why-Does-Your-Hair-Grow-Back-Differently-After-Chemotherapy#:~:text=New%20Color%2C%20Texture%20or%20Curls&text=Many%20people%20report%20having%20%22chemo,hair%20follicles%20to%20behave%20differently.
  13. https://www.medicinenet.com/what_are_the_four_types_of_hair/article.htm
  14. https://www.medicalnewstoday.com/articles/hair-types

Understanding 23andMe’s New PRS Reports

Jess on May 25, 2024

MAO-A Gene

The latest offering from 23andMe includes three new Polygenic Risk Score (PRS) reports on breast, prostate, and colorectal cancer. These reports use comprehensive genetic data and statistical models to assess an individual’s risk of developing these cancers. 

Also read: Understanding Polygenic Risk Scores

Here’s a deeper look into how these reports work and what they offer:

Polygenic Risk Scores

  • PRS aggregates the effects of hundreds to thousands of genetic variants across the genome, each contributing a small amount to the risk of developing a particular disease. Unlike traditional genetic tests, which focus on a few high-impact mutations, PRS provides a broader view of genetic susceptibility.
  • 23andMe developed the PRS reports using its vast database of genetic information and self-reported health data from consenting participants. This robust dataset allows for accurate risk assessment models tailored to various populations.

Cancer Types Covered

  • Breast Cancer: This report is available only to women. It assesses the risk based on common genetic variants influencing breast cancer susceptibility.
  • Prostate Cancer: Available for men, this report evaluates the risk of developing prostate cancer by analyzing relevant genetic variants.
  • Colorectal Cancer: This report is available to individuals of European and Latino/Hispanic descent due to the current limitations in genetic research data for other ethnicities. It assesses risk based on common variants associated with colorectal cancer.

Integration with Existing Reports:

  • Genetic Health Risk Reports: The new PRS reports complement 23andMe’s existing Genetic Health Risk reports, which focus on rare but highly impactful genetic variants. For instance, the BRCA1/BRCA2 (Selected Variants) report identifies specific mutations that significantly increase breast cancer risk.
  • Combined Approach: By combining PRS with traditional genetic health risk assessments, users receive a comprehensive overview of their genetic risk profile for these cancers.

Personalized Insights

  • Risk Interpretation: The reports provide users with their relative risk compared to the general population, helping them understand how their genetics may influence their likelihood of developing these cancers.
  • Health Recommendations: While the reports do not offer clinical action steps or diagnoses, they emphasize the importance of maintaining healthy lifestyle habits and regular screenings and suggest discussing findings with healthcare providers.

How 23andMe Users Can Access These Reports

23andMe offers different membership plans that grant access to these new reports:

23andMe+ Premium Membership

  1. Features: This plan includes access to the new cancer PRS reports, as well as additional health reports, ancestry insights, and wellness reports.
  2. Benefits: Premium members receive more comprehensive genetic insights, which can aid in proactive health management.

23andMe+ Total Health Membership

  1. Features: This plan offers the most extensive range of reports and insights, including all features of the Premium membership, plus additional in-depth health information and tools.
  2. Benefits: Total Health members gain access to an even broader spectrum of genetic data and personalized health recommendations.

Significance of the Reports

The release of these new reports marks a significant advancement in personalized medicine. Cancer risk assessments have focused on rare but highly impactful genetic variants such as BRCA1/BRCA2 variations. While these variants are crucial, they do not account for the full spectrum of genetic risk. 

The new PRS reports can fill this gap by considering the cumulative effect of many common genetic variants, providing a more comprehensive view of an individual’s cancer risk. This approach recognizes that genetics, lifestyle, and environmental factors influence cancer susceptibility. It emphasizes the importance of a holistic approach to health.

Pros of the New PRS Reports

  1. Comprehensive Risk Assessment: By analyzing thousands of genetic variants, the PRS reports offer a detailed risk profile that can identify individuals at higher risk who might not carry the well-known high-impact mutations.
  2. Informed Decision-Making: These reports empower individuals with knowledge about their genetic risk, enabling proactive health management through lifestyle changes and regular screenings.
  3. Personalized Health Insights: Integrating genetic data with self-reported health information allows for tailored health recommendations, enhancing the relevance and applicability of the findings.

Cons of the New PRS Reports

  1. Limited Ethnic Diversity: Currently, the colorectal cancer PRS report is only available for individuals of European and Latino/Hispanic descent, highlighting a broader issue of limited diversity in genetic research. Efforts are underway to address this, but it remains a limitation.
  2. Non-Diagnostic Nature: These reports do not provide clinical recommendations or diagnoses, which may leave some users uncertain about the practical steps they should take following their risk assessment.
  3. Potential Anxiety: Learning about an increased genetic risk can cause anxiety and stress, especially if users do not have access to adequate support and counseling to interpret and act on the information.

Also read: Polygenic Risk Scores for BMI Prediction

Takeaway

The introduction of 23andMe’s new cancer PRS reports represents a significant leap in genetic testing and personalized medicine. By offering a more nuanced understanding of cancer risk that includes the cumulative effect of numerous more common genetic variants, these reports provide valuable insights that can inform health decisions and potentially lead to better outcomes through early intervention and lifestyle adjustments. 

However, it is crucial to address the limitations related to ethnic diversity and provide adequate support to help users navigate the implications of their genetic risk information. As genetic research continues to evolve, these reports pave the way for more inclusive and actionable health insights, ultimately contributing to the broader goal of personalized healthcare.

References

  1. https://investors.23andme.com/news-releases/news-release-details/23andme-launches-new-genetic-reports-common-forms-cancer 

*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.


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