Is Sleep Apnoea Genetic? Causes and Solutions
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Sleep Apnoea is a common sleep disorder that causes a person to stop breathing throughout sleep. The condition often presents itself with symptoms such as snoring, constantly feeling tired, poor memory and gasping or choking in sleep as the body regains normal breathing.
The daytime sleepiness associated with untreated Sleep Apnoea increases the risk of falling asleep at the wheel and developing other health conditions such as stroke, type 2 diabetes and heart disease.
Due to the increasing number of people being diagnosed with Sleep Apnoea, you may be interested to know if Sleep Apnoea is genetic. This article will explain the condition’s connection with genetics and how to gain a diagnosis.
Table of Contents
Is Sleep Apnoea Hereditary?
Yes, research has found that genetic factors can increase the risk of developing Obstructive Sleep Apnoea (OSA) (1).
OSA has a significant genetic component, with family history playing a crucial role in an individual’s risk of developing the condition.
In contrast, genetics are unlikely to play a role in Central Sleep Apnoea (CSA).
How is Obstructive Sleep Apnoea Genetic?
The genetic factors that may increase the risk of developing OSA include:
Muscle Tone: Your throat muscles play a huge role in keeping the airway open and preventing an obstruction. Genetics can affect the control of muscles in the upper airway.
Weak or poorly controlled upper airway muscles may make it harder to keep the airway open during sleep, leading to muscle relaxation and obstructions of the airway.
Associated Conditions: If conditions such as hypertension, type 2 diabetes, and cardiovascular disease run in your family, it can increase the risk of OSA. These overlapping conditions usually share genetic pathways and risk factors, which may contribute to airway obstruction during sleep.
Circadian Rhythm: Your genes can influence your sleep cycle and how well you sleep. Studies have found an association between the development or worsening of OSA and circadian rhythm disruption (2).
Body Fat Distribution: Your genetics can impact how your body stores and distributes weight, influencing how much weight accumulates around the throat and neck.
Excess fat around these areas increases the risk of airway closure during sleep, which is directly associated with OSA.
In fact, those who are obese are at a risk of OSA nearly twice that of normal-weight adults. Fat deposition in the tissues surrounding the upper airway results in increased upper airway collapsibility and oxygen demand (3).
Breathing control: Your genes can determine how the brain and respiratory muscles coordinate breathing. How a person breathes can influence the likelihood of developing OSA, as breathing patterns differ in those with the condition.
Hereditary structural anomalies in the jaw and mouth can make it harder to breathe through the nose, leading to mouth breathing, which is associated with an increased risk of OSA.
For many with Sleep Apnoea specific breathing techniques can help to strengthen the tongue and facial muscles, supporting airway stability and reducing obstructions during sleep.
Genetic Variations: Although more research is needed to understand the connection between genetics and OSA, studies have found specific DNA variations related to breathing disruptions during sleep (1).
Evidence suggests that the following genes may be associated with Sleep Apnoea:
- Angiopoietin 2 (ANGPT2)
- −308G/A polymorphism of the tumour necrosis factor-α (TNFα)
- Lysophosphatidic acid receptor 1 (LPAR1)
- G protein receptor 83 (GPR83)
- β-arrestin 1 (ARRB1)
- Hypoxia-inducible factor 1 alpha (HIF-1α)
- Prostaglandin E receptor 3 (PTGER3)
Some of these genes are associated with higher inflammatory responses and the body’s ability to regulate blood oxygen levels.
While more research is needed to understand the correlation further, these findings help explain why OSA affects people differently.
Other Causes and Risk Factors of OSA
The causes can differ depending on the type of Sleep Apnoea and when it is developed.
Obstructive Sleep Apnoea common causes and risk factors:
Neck circumference: A neck size greater than 16 inches (women) or 17 inches (men) may indicate excess fat in the neck area, which can contribute to airway narrowing.
Weight: Excess fatty tissue and a higher body mass index (BMI) elevate the risk of OSA due to more pressure on the airway.
Age: Although OSA can develop at any age, the risk increases as we age due to changes in muscle tone and airway structure.
Smoking: The nicotine in cigarettes and vapes can cause airway inflammation, restricting breathing.
Alcohol: Consuming alcohol before bed can result in the throat muscles relaxing, making the airway more vulnerable to collapse and reducing airflow.
Hormones: Hormonal imbalances can disrupt how we breathe during sleep and increase the likelihood of an apnoea event. Examples of this include menopause and reduced testosterone levels.
Central Sleep Apnoea Causes and Risk Factors
The causes of Central Sleep Apnoea (CSA) and its risk factors differ slightly from OSA. CSA is due to the brainstem failing to regulate breathing during sleep, leading to pauses in breathing.
Risk factors for CSA include:
Congestive Heart failure: Heart failure can affect the control of breathing by increasing chemosensitivity and circulatory delay, thereby increasing the risk of CSA.
This is most commonly associated with periodic breathing patterns, where breathing effort and airflow rise and fall in cycles, known as Cheyne-Stokes respiration (CSR) (4).
Medications: Certain opioid medications can impact the brain’s control over breathing during sleep and cause CSA (5).
Underlying condition: Conditions that affect the nervous system may lead to CSA. These include neurological disorders, craniofacial abnormalities, neuromuscular conditions or injury/abnormality of the brainstem.
High altitudes: For some people, the change in oxygen at high altitudes can cause Cheyne-Stokes respiration, which is associated with CSA.
Treatment-emergent: In rare cases, some people with OSA can develop CSA when using CPAP therapy. This is known as Complex Sleep Apnoea Syndrome, which occurs at the start of using CPAP therapy.
Do You Develop Sleep Apnoea, or Are You Born with It?
Typically, people are not born with Sleep Apnoea but develop it later in life. It is generally due to a combination of lifestyle and environmental factors; for some, genetics may play a role.
Sleep Apnoea in Children
Sleep Apnoea can present itself differently in children compared to adults and is more common in those under 1 year old. This is because the sleep-wake cycle, breathing patterns, and airway structure are still developing.
Causes and risk factors of OSA in children:
- Obesity
- Enlarged tonsils
- Enlarged adenoids
- Nasal congestion
- Skull or face abnormalities
- Certain medications
- Sedatives
- Certain congenital disorders
Causes and risk factors of CSA in children:
Although very rare in children, research has found that various neurological disorders increase the risk:
- Arnold-Chiari malformation
- Ganglioglioma
- Prader-Willi syndrome
- Down syndrome
- Other genetic disorders
Diagnosing Sleep Apnoea
If you or someone you know has trouble sleeping and shows symptoms of Sleep Apnoea, the best thing to do is to take a sleep test.
The Sleep Apnoea Test
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A quick and easy way to confirm if you do or do not have Sleep Apnoea is by taking a sleep test.
The test requires one night of sleep data, and the results are sent to you within two working days.
If Sleep Apnoea is detected, our in-house clinicians can walk you through your treatment options and answer any questions you may have.
Summary
Sleep Apnoea affects millions of people worldwide and can have a detrimental effect on your sleep and overall health.
Understanding if you suffer from the condition puts you on track towards treatment and improved sleep.
If you need any help or support regarding diagnosing and treating Sleep Apnoea we are here to help.
We offer expert advice and an extensive range of treatment options to suit the requirements of many.
About Our Editorial Team
Written By,
Danielle Mahri, Staff Writer
Danni is a degree-educated content writer who works closely with our clinical and customer services teams to ensure every article is well-researched and accurate. Each article is written to educate, help, and advise on Sleep Apnoea, spread awareness, and encourage treatment.
Medically Reviewed By,
Jay Gadher, Clinical Manager
Jay is an experienced Respiratory and Sleep Clinical Scientist. He completed his BSc in Healthcare Science, which has allowed him to gain expertise in scoring sleep studies. His knowledge and insights about sleep science and human health ensure every article reflects the latest data.
References
- Mukherjee S, Saxena R, Palmer LJ. (2018). The genetics of obstructive sleep apnoea. Respirology. Available at: https://pubmed.ncbi.nlm.nih.gov/29113020/. Accessed: 09.01.2025.
- Gabryelska A, Turkiewicz S, Karuga FF, Sochal M, Strzelecki D, Białasiewicz P. (2022). Disruption of Circadian Rhythm Genes in Obstructive Sleep Apnea Patients-Possible Mechanisms Involved and Clinical Implication. Available at: https://pmc.ncbi.nlm.nih.gov/articles/PMC8775490/. Accessed: 09.01.2025.
- Romero-Corral A, Caples SM, Lopez-Jimenez F, Somers VK. (2010). Interactions between obesity and obstructive sleep apnea: implications for treatment. Available at: https://pmc.ncbi.nlm.nih.gov/articles/PMC3021364/. Accessed: 09.01.2025.
- Sands SA, Owens RL. (2015). Congestive heart failure and central sleep apnea. Crit Care Clin. Available at: https://pmc.ncbi.nlm.nih.gov/articles/PMC4486008. Accessed: 09.01.2025.
- Jeremy E Orr, Atul Malhotra, Eli Gruenberg, Traci Marin, Scott A Sands, Raichel M Alex, Robert L Owens, Christopher N Schmickl. (2024). Pathogenesis of sleep-disordered breathing in the setting of opioid use: a multiple mediation analysis using physiology, Sleep, Volume 47, Issue 11. Available at: https://academic.oup.com/sleep/article-abstract/47/11/zsae090/7644414. Accessed: 09.01.2025.