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TDLR: Research shows sleep apnea has strong genetic roots, accounting for roughly 40% of severity differences. Family history can strongly influence your risk of sleep-disordered breathing, and many twin studies have supported a heritability estimate of around 73%.
Sleep apnea is not merely a lifestyle disorder; rather, it is a genetically predisposed condition. If you have a parent or sibling who suffers from sleep apnea, you have a 50% higher likelihood of also having sleep apnea compared to an individual without a familial history. The odd clustering of sleep apnea seen in some families suggests a role for genetic factors in sleep-disordered breathing.
While central sleep apnea, caused by impairments in brainstem signaling, appears to be attributable to non-genetic risk factors, obstructive sleep apnea (OSA) has a clearly hereditary component. Genome-wide association studies have found genetic variants that influence neural control of breathing and the function of the upper airway.
The most compelling evidence to support a genetic influence on sleep apnea has stemmed from twin studies. In a large-scale twin study of sleep apnea, researchers found a heritability estimate of 73%, indicating that approximately three-quarters of your risk for sleep apnea is attributable to genetic factors. Identical twins exhibited nearly identical patterns of sleep apnea, while fraternal twins exhibited significantly different patterns of sleep apnea.
This study truly changed the perspective of the field of sleep, whether the approach was genetic or otherwise. Prior to the investigation, the prevailing assumption was that sleep apnea was primarily due to environmental factors. Now, we have evidence that your genetic code represents a strong predictor for whether you will develop sleep apnea.
Your facial anatomy, established at birth, is a significant contributing factor to the likelihood of airway obstruction. Specifically, your genes determine the width of your skull, position of your jaw, size of your nose, and shape of your throat, all of which contribute to the risk for the upper airway to collapse during sleep, causing snoring and apnea.
Heritability studies of airway anatomy suggest that family members have similar craniofacial features, which puts them at a heightened risk for snoring and sleep apnea. This extends well beyond learned habits in lifestyle variables and also explains why sleep apnea can "run" in families.
Genome-wide association studies have identified genetic variations that influence the control of breathing during sleep in the brain. For example, the GPR83 gene, expressed in many brain locations that control breathing, facilitates the body's accommodation of changes to CO2 and O2 levels.
Some individuals inherit variant GPR83 genes that result in less stable control during sleep, which then leads to more sleep-related breathing disorders. Again, the variability among parents, siblings, and children illustrates why sleep apnea can differ greatly among individuals.
Genetics is involved, to a large degree, in one's body weight distribution and metabolism, both of which are recognized risk factors for sleep apnea. For adults suffering from obesity, the likelihood of developing sleep apnea is greater than 10-fold than in adults who are not obese. Twin studies support evidence of shared genetic backgrounds between obesity and sleep apnea.
Some genetic variants affect fat distribution in the body, mainly around the neck and throat area, which directly affects the space available for the airway during sleep. This relationship is the rationale for why weight loss remains an important part of treatment even when there is a strong genetic component.
The discovery of the PHOX2B gene was a remarkable milestone after it was first being described in patients with congenital central hypoventilation syndrome. While it is rare for sleep apnea patients to have mutations in the PHOX2B gene, researchers have noted "silent" mutations in children with features of sleep apnea along with facial features associated with congenital central hypoventilation syndrome.
This gene is pivotal for respiratory neural circuitry. In mouse studies, deletion of PHOX2B resulted in sleep apneas and impaired response to changes in carbon dioxide levels. This is a classic example of how one gene can have a significant impact on breathing regulation during sleep.
There has been a lot of research into inflammatory response genes. Research has shown that there are polymorphisms in the TNF-alpha gene (-308G/A) associated with inflammatory response in patients with sleep apnea. Also important are genes such as ANGPT2 and prostaglandin receptor gene PTGER3 and beta-arrestin gene ARRB1.
With these pathways, we can begin to piece together how sleep apnea relates to cardiovascular disease, as well as why some patients experience improvement with anti-inflammatory medications.
Research into neurotransmitter genes related to dopamine and serotonin receptors has provided further insight into the biology of sleep apnea, particularly with sleep regulation and breathing control. Studies of nitric oxide synthase and endothelin genes have indicated that they may be associated with the development of childhood sleep apnea.
These patterns of genetic variation may help to explain some of the variability of sleep quality and daytime sleepiness experienced by sleep apnea patients.
We consulted Dr. Michael Grandner, Sleep Expert, Professor of Neuroscience, and Physiological Sciences, to see what genetic research means for patients with sleep apnea. Dr. Grandner said: "The understanding of genetic predisposition allows you to perform screening of family members who are at-risk for sleep apnea prior to symptoms." This enables advanced screening and early intervention for relatives and family members of diagnosed patients.
Dr. Suzanne Gorovoy, Sleep Expert, Clinical Psychologist, and expert in Behavioral Sleep Medicine, clarified further the clinical implications: "Genetic factors help us understand why some patients struggle more than others with adherence and outcomes." This means that individual genetic factors may be more important than other factors in helping us understand how individuals respond to a variety of therapies, from CPAP devices to oral appliances.
Dr. Shiyan Yeo, Internal Medicine Physician and Sleep Specialist, alluded to the research implications: "As genetic markers are established to help classify risk factors for sleep apnea, we will eventually classify treatment plans by genetics." When genetic testing becomes routine, clinicians will provide treatments based on the patients' verified genetic status.
Due to the relatively high heritability of sleep apnea, screening first-degree relatives of patients is critical, particularly those with more severe disease. If a family member snores loudly or appears extremely sleepy during the day, they should be carefully assessed for sleep apnea.
By identifying sleep apnea earlier, we can take preventive action that might limit or reduce the severity of a diagnosis by using sleep position therapy and lifestyle interventions.
During the last several years, there have been very large genetic studies, including up to several hundred thousand individuals, looking at risk genes. New genetic markers have been uncovered that differ based on ancestry and sex. This may ultimately lead to precision medicine for specific presentations of sleep apnea.
Someday, we may even be making treatment decisions that could include testing genes frequently using genetic profiles to guide the best or most effective treatments while improving adherence to CPAP or overall therapy.
Despite the strong genetic contributions, environmental factors are also important. If we look at daytime sleepiness, its severity is determined more by environmental factors than genetic factors. Lifestyle modifications remain important parts of sleep apnea care and may include weight loss, sleep position therapy, or not using alcohol before bedtime.
Even with a strong genetic predisposition, sleep hygiene practices and optimizing the bedroom may profoundly change outcomes.
The future of genetic research, above all, holds some excitement as scientists expect to discover many more sleep apnea genes in the next 10 years. This may help to better understand disease processes while allowing for potential new interventions.
As we learn more about the genetic basis of sleep apnea, we may have the ability to:
Strong Genetic Component: Sleep apnea has a heritability of 73%, making it one of the most heritable medical conditions.
Family History Matters: First-degree relatives have a 50% increased risk, making discussions about sleep health in families important.
Multiple Pathways: Genetic components likely contribute to sleep apnea risk, which include nasal/facial anatomy but also breathing control, metabolic features, and markers of inflammation.
Take Actionable Knowledge: Understanding sleep apnea genetics can lead to increased chances of earlier diagnoses, better treatment selection, and improved management of sleep apnea in the context of sleep medicine.
The more we understand about the genetics related to sleep apnea, the better we can empower our patients and their families to take proactive steps. While you may not be able to change your genes, knowing your predispositions to genes associated with sleep apnea could lead to an earlier diagnosis, better treatment success, and overall improved outcomes. The future of sleep medicine will involve the integration of a genetic understanding combined with evidence-based treatment approaches to provide the best care for everyone.
This article is based on current peer-reviewed literature and research. Always consult a healthcare provider to evaluate and treat sleep apnea in a personalized approach.
Dr. Shiyan Yeo
Dr. Shiyan Yeo is a medical doctor with over a decade of experience treating patients with chronic conditions. She graduated from the University of Manchester with a Bachelor of Medicine and Surgery (MBChB UK) and spent several years working at the National Health Service (NHS) in the United Kingdom, several Singapore government hospitals, and private functional medicine hospitals. Dr. Yeo specializes in root cause analysis, addressing hormonal, gut health, and lifestyle factors to treat chronic conditions. Drawing from her own experiences, she is dedicated to empowering others to optimize their health. She loves traveling, exploring nature, and spending quality time with family and friends.
