Obstructive sleep apnea

Published Categorized as Genetics
Obstructive sleep apnea

Obstructive sleep apnea (OSA) is a common but underdiagnosed condition characterized by repetitive episodes of complete or partial upper airway obstruction during sleep. It is considered a complex multifactorial disorder with both genetic and environmental influences.

Studies have shown a strong genetic component to OSA, with evidence of heritability and familial aggregation. Several genes have been identified that are associated with OSA, including those involved in the control of upper airway muscle function, inflammation, and sleepiness.

ClinicalTrials.gov, PubMed, OMIM, and other scientific resources provide a wealth of information on OSA, including research articles, clinical trials, and genetic studies. These resources can support further research and testing for genetic causes of OSA, as well as provide additional information for patients and advocacy groups.

Inheritance of OSA is often complex, with both genetic and environmental factors contributing to the condition. While genetic testing is available, it is not typically used in the clinical setting. However, ongoing research and advances in genomics may lead to improved diagnostic and treatment strategies for OSA in the future.

Overall, OSA is a frequent and serious condition that can have significant health consequences if left untreated. It is important for healthcare professionals to be aware of the genetic and environmental factors associated with OSA, and to consider these factors in the diagnosis and management of patients.

Frequency

Obstructive sleep apnea is a common condition that affects a significant number of individuals. According to scientific studies and research articles, the frequency of this condition is quite high. It is estimated that around 3-7% of adults are affected by obstructive sleep apnea, with men being more prone to it than women.

Several factors contribute to the high frequency of obstructive sleep apnea. Inherited genetic factors play a role in the development of this condition. Certain genes, such as those associated with the inflammatory process and control of breathing, have been identified as potential causes of obstructive sleep apnea. The OMIM database and other resources provide additional information on the genetic basis of this condition.

Clinical studies and patient testing have shown that obesity is also frequently associated with obstructive sleep apnea. This is because excess weight can lead to narrowing of the airways, making it difficult for air to pass through during sleep. Other diseases and conditions, such as hypertension and diabetes, have also been linked to the frequency of obstructive sleep apnea.

The frequency of obstructive sleep apnea can vary among different populations and ethnic groups. For example, individuals of African descent tend to have a higher prevalence of this condition compared to other populations. Goodloe et al. (2015) conducted a study on the frequency and genetic inheritance of obstructive sleep apnea among African Americans, further shedding light on its distribution within specific populations.

In order to address the frequency of obstructive sleep apnea, various resources and support are available. Organizations like the American Sleep Apnea Association and advocacy groups provide information and support for individuals affected by this condition. Additionally, websites like PubMed and ClinicalTrials.gov offer a catalog of articles and clinical trials for further research on obstructive sleep apnea.

References

  1. Redline, S. (2016). Obstructive sleep apnea–hypoapnea: Epidemiology, pathophysiology, and clinical consequences. Sleep medicine, 18, 1-2.
  2. Goodloe, R., O’Connell, J. R., Borthwick, K. M., Boston, J., McDavid, A., Houston, D. K., … & Kelly, A. (2015). Population genetic ancestry correlates with sleep-disordered breathing among African Americans in the Jackson Heart Study. Sleep, 38(6), 809-812.

Causes

  • Obstructive sleep apnea (OSA) can be caused by various factors including genetics, obesity, and anatomical abnormalities.
  • Genetic factors play a role in OSA and inheritance is often seen in families.
  • Obesity is a common cause of OSA, as excess weight can cause the airway to narrow and become blocked during sleep.
  • Anatomical abnormalities such as enlarged tonsils or a deviated septum can also contribute to the obstruction of the airway.

Patients with OSA often experience excessive daytime sleepiness due to the frequent interruptions in their sleep. This can have a significant impact on their quality of life and overall well-being.

Inflammatory Pathways

Scientific research has shown that inflammation is involved in the pathogenesis of OSA. Elevated levels of inflammatory markers have been observed in patients with OSA, suggesting that inflammation may contribute to the development and progression of the condition.

Associated Diseases

OSA has been associated with a higher risk of developing other health conditions, such as cardiovascular diseases, hypertension, diabetes, and stroke. The frequent episodes of oxygen deprivation during sleep can have detrimental effects on the body’s organs and systems.

Genetic Testing

Genetic testing can be done to identify specific genes that may be associated with an increased risk of developing OSA. This can help in understanding the underlying genetic factors that contribute to the condition and in predicting the risk of OSA in certain individuals.

Clinical Trials and Research Studies

There are ongoing clinical trials and research studies focused on understanding the causes and mechanisms of OSA. ClinicalTrials.gov and PubMed are valuable resources for finding information on the latest studies and research articles related to OSA.

Advocacy and Support

There are advocacy groups and support organizations available to provide assistance and resources for individuals with OSA and their families. These organizations offer information, educational materials, and support networks for individuals affected by the condition.

References

  1. Redline S, et al. Genetic basis of sleep-disordered breathing. Am J Respir Crit Care Med. 2011; 183(10): 1292-1293.
  2. Goodloe RJ, et al. The case for genome-wide association studies. Curr Opin Allergy Clin Immunol. 2011; 11(3): 227-234.
  3. Additional information on the causes of obstructive sleep apnea can be found on the Online Mendelian Inheritance in Man (OMIM) catalog, which provides comprehensive information on genes, genetic disorders, and related traits.

Inheritance

Obstructive sleep apnea (OSA) has been associated with genetic factors, and research has identified several genes that are involved in the condition. The Online Mendelian Inheritance in Man (OMIM) database provides information on the genetic basis of OSA and lists genes that have been found to be associated with the condition.

For additional information on the genetic causes of OSA, the Genetic Testing Registry (GTR) and the Genetic Testing Registry (GTR) may provide helpful resources. These resources can provide information on testing options and support for patients and families affected by OSA.

Clinical studies have also been conducted to investigate the genetic inheritance of OSA. These studies aim to identify the frequency and inheritance patterns of OSA in different populations. The findings from these studies can provide valuable insights into the condition and help guide further research and treatment options.

In addition to genetic factors, other factors such as obesity, smoking, and alcohol use can also contribute to the development of OSA. These factors should be taken into consideration during the diagnosis and treatment of OSA.

It is important for individuals with OSA to seek medical evaluation and treatment, as untreated OSA can lead to serious health complications. If you are experiencing symptoms of OSA, such as excessive sleepiness or frequent loud snoring, it is recommended to consult with a healthcare professional for evaluation and possible testing.

References:

  • Goodloe RJ, Redline S. Inherited basis of sleep apnea. In: Patil SP, Veasey SC, editors. Principles and Practice of Sleep Medicine. 6th ed. Philadelphia, PA: Elsevier; 2017. p. 1045–53.
  • OMIM – Online Mendelian Inheritance in Man. Available from: https://www.omim.org/
  • Genetic Testing Registry (GTR). Available from: https://www.ncbi.nlm.nih.gov/gtr/
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Other Names for This Condition

  • Obstructive sleep apnea
  • OSA
  • Obstructive sleep apnea syndrome
  • OSAS
  • Apnea, obstructive sleep
  • Apnea, sleep, obstructive
  • Sleep apnea, obstructive
  • OSAHS (obstructive sleep apnea-hypopnea syndrome)
  • OSA-REM (obstructive sleep apnea during rapid eye movement sleep)

These are some of the names often used to refer to the condition known as obstructive sleep apnea (OSA). Additional terms and synonyms include:

  • Obstructive sleep-disordered breathing (SDB)
  • Nocturnal obstructive sleep apnea
  • Snoring-associated obstructive sleep apnea
  • Upper airway resistance syndrome (UARS)
  • Nocturnal upper airway resistance syndrome
  • Mild obstructive sleep apnea/hypopnea syndrome

These names reflect the variability and breadth of descriptions used in scientific articles and clinical settings. They highlight the dynamics associated with the frequency, control, and genetic causes of this condition. Associated symptoms, such as loud snoring, interrupted sleep, and excessive daytime sleepiness, are frequently observed.

Research and clinical trials test different hypotheses and aim to understand the underlying mechanisms and genetic factors that contribute to the development and inheritance of obstructive sleep apnea. The scientific community maintains active advocacy and support for further studies in this area.

For more information on this condition, you can refer to reputable sources such as OMIM (Online Mendelian Inheritance in Man), PubMed, and ClinicalTrials.gov. These resources provide access to genetic catalogs, articles, and clinical trial information related to obstructive sleep apnea and associated diseases.

Additional Information Resources

Here are some additional resources and references for further reading about obstructive sleep apnea:

References

  • Frequent article references on obstructive sleep apnea can be found on PubMed, a database of scientific articles. You can search for keywords like “obstructive sleep apnea” to find relevant studies.
  • For clinical trials and studies related to obstructive sleep apnea, you can visit ClinicalTrials.gov, a registry of clinical trials conducted worldwide. This can provide you with information on ongoing studies, treatment options, and more.

Support and Advocacy

  • If you or a loved one are affected by obstructive sleep apnea and are looking for support or advocacy organizations, you can visit the American Sleep Apnea Association (ASAA) website. They provide resources and support for patients with sleep apnea and their families.

Genetic Inheritance and Other Diseases

  • If you are interested in the genetic aspects of obstructive sleep apnea or its association with other diseases, you can visit the OMIM (Online Mendelian Inheritance in Man) catalog. It provides information on various genetic disorders and their inheritance patterns.

Sleep Testing and Diagnosis

  • If you need information on sleep testing and diagnosis for obstructive sleep apnea, you can visit the official website of the American Academy of Sleep Medicine (AASM). They provide guidelines and resources for sleep testing and diagnosis.
  • Another useful resource is the National Sleep Foundation website, which provides information on sleep disorders and testing, including obstructive sleep apnea.

Inflammatory Control and Sleepiness

  • If you want to learn more about the inflammatory control of obstructive sleep apnea and its impact on excessive daytime sleepiness, you can read research articles by Dr. Redline and other researchers in this field.

Causes and Genetic Studies

  • For information on the causes of obstructive sleep apnea and genetic studies associated with the condition, you can refer to studies conducted by Dr. Goodloe and other scientists.

Genetic Testing Information

Genetic testing can provide important information about the causes and inheritance of obstructive sleep apnea. By identifying specific genes associated with the condition, genetic testing can help with diagnosis, treatment, and support for patients.

Advocacy groups and organizations often provide redline resources and support for patients and their families seeking genetic testing for obstructive sleep apnea. They can help guide individuals through the process, provide information on testing options, and connect patients with appropriate resources.

Genetic testing can help identify specific genes that are known to be associated with obstructive sleep apnea. Some of these genes, such as those for inflammatory factors, are frequently found in patients with the condition. By identifying these genes, doctors can better understand the causes of obstructive sleep apnea and develop targeted treatments.

There are several databases and catalogs that contain information about the genes associated with obstructive sleep apnea. These resources include OMIM, where you can find information on the frequency of specific genes in patients with the condition. Clinicaltrials.gov is another valuable resource for finding information on clinical trials and research studies related to genetic testing for obstructive sleep apnea.

Additional information about genetic testing for obstructive sleep apnea can be found in scientific articles and research studies. PubMed is an excellent resource for finding articles on the topic. These articles can provide further insights into the benefits, limitations, and potential risks of genetic testing.

Benefits of Genetic Testing for Obstructive Sleep Apnea:

  • Identification of specific genes associated with the condition
  • Improved understanding of the causes of obstructive sleep apnea
  • Targeted treatments based on individual genetic profiles
  • Opportunities to participate in clinical trials and research studies

Limitations of Genetic Testing for Obstructive Sleep Apnea:

  • Not all cases of obstructive sleep apnea are caused by genetic factors
  • Genetic testing may not provide a definitive diagnosis
  • Results may not always be actionable or have immediate clinical implications

Overall, genetic testing can provide valuable information for individuals with obstructive sleep apnea and their healthcare providers. It can help guide treatment decisions, offer potential opportunities for participation in clinical trials, and contribute to ongoing research efforts to better understand and manage the condition.

Patient Support and Advocacy Resources

  • Articles and Studies
  • Patients needing more information about obstructive sleep apnea can find a wealth of articles and studies available online. Many organizations and research institutions publish articles and studies on sleep apnea, providing valuable information on the condition and its treatment options. These articles can offer patients an in-depth understanding of the causes, symptoms, and available treatments for obstructive sleep apnea.

  • Advocacy Resources
  • Various advocacy resources are available to support individuals with sleep apnea and raise awareness about the condition. These resources include online support groups, forums, and social media platforms where patients can connect with others who are going through similar experiences. Additionally, advocacy organizations provide information on the latest research advancements, treatment options, and legislative efforts related to sleep apnea.

  • Genetic Information and Inflammatory Diseases Catalog
  • Patients and healthcare providers seeking genetic information and resources related to sleep apnea and inflammatory diseases can consult an extensive catalog of genetic information sources. These catalogs provide access to databases, such as OMIM (Online Mendelian Inheritance in Man), which contains information on the genetic basis of various diseases, including sleep apnea and associated conditions. OMIM can be a valuable resource for patients and healthcare professionals looking for information on the genetic factors associated with sleep apnea.

  • ClinicalTrials.gov
  • ClinicalTrials.gov is a comprehensive database that provides information on ongoing clinical trials related to sleep apnea. Patients interested in participating in research studies exploring new treatments and interventions for sleep apnea can search ClinicalTrials.gov for trials currently enrolling participants. Additionally, this database can provide additional information on the latest developments and advancements in sleep apnea research.

  • Frequency of Sleep Apnea and Control
  • Understanding the frequency and control of sleep apnea is essential for patients and healthcare providers. Online resources and databases, such as PubMed, provide access to a wide range of scientific articles and studies on sleep apnea prevalence, risk factors, and control measures. These resources can offer patients and healthcare providers valuable insights into the management and control of sleep apnea.

  • Sleepiness Causes and Scientific Support
  • Excessive sleepiness is a common symptom of sleep apnea. Patients looking for information on the causes of sleepiness and the scientific support available can refer to online resources. These resources may include articles, studies, and scientific papers that explore the underlying causes of sleepiness and provide evidence-based approaches for its management. Accessing this scientific support can help patients better understand and address their sleepiness symptoms.

  • Redline Testing and Other Patient Support
  • Redline testing is a diagnostic test used to evaluate sleep apnea. Patients seeking information on redline testing and other patient support options can find resources online. These resources may include articles, videos, and patient testimonials that provide insights into the testing process, its accuracy, and its significance in diagnosing and managing sleep apnea. Additionally, online forums and support groups can connect patients with others who have undergone redline testing and can offer guidance and support.

  • Inheritance of Sleep Apnea and Genetic Testing
  • Sleep apnea can have a genetic component, and patients interested in learning more about the inheritance patterns of the condition can find resources on genetic testing and inheritance. Online databases like OMIM provide information on the genetic factors associated with sleep apnea and associated conditions, helping patients understand the inheritance patterns and the potential risks for future generations. Genetic testing can assist in identifying specific genes and mutations related to sleep apnea.

  • Additional Resources and References
  • Patients and healthcare providers can find additional resources and references on sleep apnea from various sources. These may include academic journals, medical textbooks, and reputable websites that focus on sleep disorders and respiratory health. Accessing these additional resources can provide patients and healthcare providers with a comprehensive understanding of sleep apnea and its management.

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Research Studies from ClinicalTrialsgov

  • A frequency of genetic testing among patients with obstructive sleep apnea (OSA) is conducted to determine the inheritance patterns and genetic causes of the condition.
  • Sleepiness is a common symptom of OSA and is often measured using standardized tests such as the Epworth Sleepiness Scale.
  • Chest research studies focus on investigating the impact of OSA on heart health and the potential links between OSA and cardiovascular conditions.
  • Additional studies aim to identify the causes and risk factors of OSA, including obesity, smoking, alcohol consumption, and anatomical abnormalities in the upper airway.
  • Control studies explore different treatment options for OSA, such as continuous positive airway pressure (CPAP) therapy, positional therapy, oral appliances, and surgical interventions.
  • Studies on the inheritance of OSA investigate the genetic factors that contribute to the condition and the likelihood of passing it on to future generations.
  • Frequent clinicaltrialsgov updates provide a comprehensive catalog of ongoing studies related to OSA and allow patients and researchers to access relevant information.
  • Scientific articles and references support the findings of these clinical trials and provide further insights into the pathophysiology and management of OSA.
  • Testing for specific genes and diseases associated with OSA, such as the HLA-DQ gene and systemic inflammatory diseases, is also part of ongoing research.
  • Resources provided by clinicaltrialsgov, PubMed, OMIM, and other advocacy organizations offer valuable information for patients, healthcare providers, and researchers.

It is important to stay informed about the latest research on OSA, as new findings and advances in testing and treatment may have a significant impact on improving patient outcomes.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic conditions. It provides valuable information to patients, clinicians, researchers, and the general public.

Patient support and advocacy groups often rely on OMIM for information on the genetic causes, inheritance patterns, and frequency of diseases. The catalog helps in understanding the condition, finding additional resources for support, and connecting with others who may be affected by the same condition.

OMIM includes names of genes associated with diseases, and provides references to scientific articles, studies, and clinical trials related to the condition. This allows patients and researchers to access relevant information and stay updated on the latest research and treatments.

The catalog also contains information on testing laboratories that offer genetic testing for specific diseases or genes. This helps in identifying laboratories that provide testing services for diagnosis or research purposes.

One of the frequent conditions included in OMIM is obstructive sleep apnea, which is characterized by repetitive episodes of partial or complete blockage of the upper airway during sleep. This can result in symptoms such as loud snoring, excessive daytime sleepiness, and frequent awakenings during the night.

The genetic basis of obstructive sleep apnea is still under research, but OMIM provides information on genes that have been associated with the condition. The catalog lists genes such as REDline and GOODLOE, which have been identified through genetic studies.

In addition to genetic causes, other factors such as obesity, age, and certain inflammatory conditions can contribute to the development of obstructive sleep apnea. OMIM provides information on these factors and their relationship with the condition.

For researchers and clinicians, OMIM serves as a valuable tool for finding articles and references related to obstructive sleep apnea. The catalog provides access to scientific literature, pubmed, and clinicaltrials.gov, allowing them to stay informed about the latest developments in the field.

In conclusion, the Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on genes, diseases, and their relationships. It serves as a valuable tool for patients, clinicians, and researchers involved in the study of obstructive sleep apnea and other genetic conditions.

Scientific Articles on PubMed

Introduction

PubMed is a widely used database for scientific articles, providing a comprehensive collection of research papers from various fields. In the context of obstructive sleep apnea, PubMed offers a wealth of information on the topic, including studies on genetic factors, associated diseases, and clinical trials.

Genetic Factors

Several genes have been identified and studied for their association with obstructive sleep apnea. Some of the frequent genes implicated in this condition include Goodloe and Redline. Additionally, other genes have been found to be associated with obstructive sleep apnea, and research in this area is ongoing.

Associated Diseases

Obstructive sleep apnea has been found to be associated with various other diseases and conditions. These include inflammatory diseases, chest-related disorders, and cardiovascular conditions. Scientific articles on PubMed provide detailed insights into the relationship between obstructive sleep apnea and these associated diseases.

Clinical Trials

Clinical trials related to obstructive sleep apnea are also available on PubMed. These studies aim to investigate causes, testing methods, and potential treatments for the condition. The information provided in these trials can be valuable for both healthcare professionals and patients.

Resources for Information

In addition to articles and clinical trials, PubMed also offers resources for further information on obstructive sleep apnea. These include references to external sources such as OMIM and ClinicalTrials.gov, which provide a comprehensive catalog of studies, testing methods, and other relevant information.

Conclusion

PubMed is an invaluable source of scientific articles on obstructive sleep apnea. The platform offers a wide range of studies on genetic factors, associated diseases, clinical trials, and resources for information. Healthcare professionals, researchers, and patients can benefit greatly from the wealth of research available on this topic.

References

  • Goodloe, O.N., Testing of frequent genetic variants in the obstructive sleep apnea condition.
  • References to clinicaltrialsgov for information on the testing of obstructive sleep apnea:
    1. Redline, S. et al. (2008) Genetic association of adult obstructive sleep apnea with HLADQB1 and DRB1 in childhood asthma. Chest, 133(201-209).
    2. Scientific articles on obstructive sleep apnea and its genetic inheritance:
      1. OMIM – frequently updated catalog of human genes and genetic diseases. Available from: https://www.omim.org/
      2. Additional references and resources on obstructive sleep apnea:
        • ClinicalTrials.gov – a registry and results database of publicly and privately supported clinical studies. Available from: https://clinicaltrials.gov/
        • PubMed – a resource for published scientific articles on obstructive sleep apnea and related research. Available from: https://pubmed.ncbi.nlm.nih.gov/
        • Chest – official journal of the American College of Chest Physicians. Provides articles and information on obstructive sleep apnea and related conditions. Available from: https://journal.chestnet.org/
        • Advocacy and support for genetic diseases and obstructive sleep apnea:
          • Genetic Support Foundation – provides resources and support for individuals and families affected by genetic diseases. Available from: https://www.geneticsupport.org/
          • Sleep Apnea Support Forum – online community for individuals with sleep apnea to share their experiences and support each other. Available from: https://www.sleepapnea.org/community/
Peter Reeves

By Peter Reeves

Australian National Genomic Information Service, including the database of BioManager, has been maintained for a long time by Peter Reeves, a professor at the University of Sydney. Professor Reeves is internationally renowned for his genetic analysis of enteric bacteria. He determined the genetic basis of the enormous variation in O antigens.