Abstract
The objective of this article is to present the approach, the main methods and the main results obtained in the study of the genetics of sleep disordered breathing. It is not an exhaustive systematic review of the literature but a didactic presentation to aid understanding of current research in the domain. It highlights the existence of a genetic predisposition to developing respiratory sleep disorder, from simple snoring to sleep apnea syndrome. The genes and pathways most frequently identified are those involved in inflammation.
Highlights
There is a continuum of sleep disordered breathing, from snoring to apnea
These studies demonstrate multigenerational familial aggregation of sleep disordered breathing, in different countries: i.e., in populations of differing origins (Caucasian, African American or Asian). They further demonstrated that this familial component was partly accounted for by genetic factors, and estimated heritability at 21% to 84% depending on population, phenotype and associated factors such as BMI or morphology
The principle consists in comparing the distribution of the observed phenotype in the studied population versus the expected distribution according to various Mendelian models, taking account of known risk factors, familial resemblance and the characteristics of the major gene being modeled
Summary
The objective of this article is to present the approach, the main methods and the main results obtained in the study of the genetics of sleep disordered breathing. It is not an exhaustive systematic review of the literature but a didactic presentation to aid understanding of current research in the domain. It highlights the existence of a genetic predisposition to developing respiratory sleep disorder, from simple snoring to sleep apnea syndrome. KEY WORDS Sleep disordered breathing, OSAHS, genetic predisposition, risk factors, inflammation
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