Genetic testing for sleep disorders represents a cutting-edge approach to understanding and managing sleep-related issues.Â
This testing can reveal insights into individual predispositions for various sleep patterns and disorders by analyzing specific genes and genetic variations. Such personalized information not only aids in diagnosing sleep conditions but also helps in tailoring effective treatment strategies.Â
As research in sleep genetics progresses, genetic testing is becoming an increasingly vital tool in sleep medicine, offering new possibilities for optimizing sleep health.
Inclination to nap during the day is partially heritable and influenced by genetic variants that affect sleep-wake regulation and circadian rhythms.
In a 2021 GWAS of daytime napping using UK Biobank and 23andMe data, 123 loci associated with napping were identified, including missense variants in known sleep disorder drug target genes (HCRTR1, HCRTR2), arousal-related genes (TRPC6, PNOC), and genes indicating an obesity-hypersomnolence pathway (PNOC, PATJ). The study also linked frequent daytime napping to increased blood pressure and waist circumference.
Some people tend to feel unusually sleepy during the day. The heritability component of this condition involves genes regulating sleep, wakefulness, and circadian rhythms.Â
A 2019 study identified 42 genetic loci associated with self-reported daytime sleepiness in a GWAS involving 452,071 UK Biobank participants. These loci are linked to brain function and neuronal pathways, and their aggregate effect on sleepiness was confirmed in Scandinavian cohorts. The study also found connections with other sleep disorders, sleep traits, and conditions like obesity and coronary heart disease. The sleepiness variants cluster into two subtypes: sleep propensity and sleep fragmentation. Among the genetic variants identified was SNP rs1846644 in KSR2, a gene that regulates multiple signaling pathways that affect energy balance, cellular fatty acid, and glucose oxidation and which are implicated in obesity, insulin resistance, and heart rate during sleep in previous studies in humans and mice.
Sleep depth refers to the intensity of sleep, affecting how easily one is awakened. Genetic variations in sleep regulation and brain neurotransmitter systems influence the nightly quantity of the slow brain wave deep sleep. An early study from 2012 found that the ADA gene variant (rs73598374) affects sleep depth and cognitive functions. Individuals with the G/A genotype showed altered sleep patterns, specifically in non-REM slow-wave oscillations, and performed worse in attention tasks compared to G/G homozygotes.
Melatonin regulates sleep-wake cycles. Genetic differences in melatonin synthesis and metabolism contribute to variations in its secretion levels.
A 2022 GWAS, the first for melatonin secretion, analyzed urine samples from 2373 Taiwanese Biobank participants. It identified five genetic loci associated with melatonin levels, including loci in ZFHX3, GALNT15, GALNT13, LDLRAD3, and the SEPP1-FLJ32255 intergenic region. These genes are linked to circadian behavior, neuronal differentiation, motor disorders, anxiety, and neurodegenerative diseases.Â
Involuntary limb movements during sleep. Genetic factors, particularly those related to nervous system function, may influence its occurrence.
A 2022 GWASÂ was performed on periodic limb movements in sleep (PLMS) involving 6843 participants from four cohorts. Genetic variants in two genes, MEIS1 and BTBD9, were significantly associated with PLMS and linked to restless leg syndrome (RLS). PLMS showed genetic correlations with insomnia, stroke risk, and RLS.
Genetics and factors such as airway structure and respiratory system function play a role in the tendency to snore regularly.Â
In the 2020 study, researchers found genetic correlations between snoring and several other factors and conditions, including body mass index (BMI), alcohol intake, and smoking. Through gene-based associations, they pinpointed 173 genes and their genetic variants associated with snoring. Among those, DLEU7, MSRB3, and POC5 are notable genes expressed in various relevant body parts such as the brain, cerebellum, lungs, blood, and esophagus.
Sleep latency refers to the time it takes to fall asleep. Genes affecting neurotransmitters and circadian rhythm can influence sleep latency.
A 2016 meta-analysis of GWAS in seven European cohorts (4242 individuals) identified three SNPs in the RBFOX3 gene associated with sleep latency. These findings, replicated in 12 populations (30,377 individuals), suggest RBFOX3’s significant role in sleep onset, given its brain and central nervous system expression and involvement in neurotransmitter release.
Genetic variations affecting the total time spent sleeping are known to influence circadian clock genes and sleep homeostasis. Â
A 2014 GWAS on usual sleep duration involving 47,180 individuals identified significant associations at two loci, particularly near the PAX8 gene (and LINC02966) on chromosome 2. This association was replicated in an African-American cohort. The variant rs1823125 was linked to a longer sleep duration.
Genetics, including variants related to stress response and brain function, can predispose individuals to insomnia.
A 2020 meta-analysis of twin studies estimated the overall heritability of insomnia to be approximately 40%. According to a 2012 review of sleep disorders, 35% of people with insomnia have a positive family history, with the mother being the most commonly affected family member.
Personal sleep-wake preference pattern (morning or evening type). It’s highly heritable, influenced by genetic variations in the circadian rhythm regulation.
A notable association was discovered between the CLOCK gene’s SNP rs2070062 and sleep duration. Individuals with the T allele experienced significantly shorter sleep durations compared to those without the allele, even after accounting for socio-economic status, body mass index, alcohol consumption, and smoking habits.
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We offer a basic DNA raw data analysis package to kickstart your journey. Users with raw data from 23andMe, AncestryDNA, etc., can access close to 200 traits across interests such as Nutrition, Wellness, Vitamins and Supplements, Personality, Fitness, Sleep, Methylation, and Skincare.
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Furthermore, 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.
*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.
