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Published on: December 6, 2016
Obstructive sleep apnea syndrome: from phenotype to genetic basis
M Casale1, M Pappacena, V Rinaldi
1Area of Otolaryngology, University Campus Bio-Medico, Rome, Italy.
Current Genomics
|October 2, 2009
Summary
Genetic factors play a significant role in obstructive sleep apnea syndrome (OSAS), a common condition affecting millions. Research suggests approximately 35-40% of OSAS variance is inherited, influencing key risk factors.
Area of Science:
- Genetics and Sleep Medicine
Background:
- Obstructive sleep apnea syndrome (OSAS) is a prevalent chronic condition affecting 4-5% of the population.
- Characterized by snoring, apnea, hypoxemia, and daytime sleepiness, OSAS has a significant inherited component.
Purpose of the Study:
- To define the OSAS phenotype, its inherited risk factors, and pathogenesis.
- To review current advancements in OSAS genetics research.
- To explore future therapeutic perspectives for OSAS.
Main Methods:
- Review of familial, twin, racial, and chromosomal mapping studies.
- Analysis of genetic contributions to craniofacial structure, body fat distribution, and upper airway muscle neural control.
- Examination of animal models for genetic insights into OSAS.
Main Results:
- Evidence supports a strong genetic link to OSAS, with 35-40% of its variance attributed to genetic factors.
- Genetic factors likely interact, influencing craniofacial structure, body fat, and neural control of airways.
- Specific causative genes are yet to be identified, but several genetic systems are implicated.
Conclusions:
- Genetics significantly contributes to the development of obstructive sleep apnea syndrome.
- Further research into genetic systems is crucial for understanding OSAS pathogenesis.
- Identifying specific genes may lead to novel therapeutic strategies for OSAS.
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