chapter  13
44 Pages

Familial and Genetic Factors

BySanjay R. Patel, Peter V. Tishler

Peter V. Tishler Partners Center for Genetics and Genomics, Channing Laboratory, Brigham and Women's Hospital/Harvard Medical School, Boston, Massachusetts, U.S.A.

INTRODUCTION A familial basis for obstructive sleep apnea (OSA) was first postulated in 1978 by Strohl et al. who reported on three brothers with this disorder (1). Since that time, it has become increasingly clear that OSA commonly clusters within families (2-4). Part of this clustering is due to the familial aggregation of features that predispose to OSA, such as obesity. The correlations in sleep-disordered breathing among family members persist even after accounting for these risk factors, however, suggesting that genetic susceptibility plays an important direct role in the patho­ genesis of OSA (2,3). Knowledge of sleep apnea genetics may provide not only an opportunity to better understand an individual's predisposition to develop OSA and its neuropsychiatric and cardiovascular consequences, but also insight into the molecular pathways that, when dysregulated, produce OSA. The ability to predict individual risk will allow for more efficient prevention and screening programs, while knowledge of pathophysiology may lead to novel treatment strategies that specifically target the molecular defects.