ABSTRACT

The development of increasingly powerful molecular and statistical methods for dissecting the genetic bases of complex diseases has encouraged studies of a number of chronic diseases. Many of these are of major economic and societal importance, as they are responsible for increasing illness with age. One of these is obstructive sleep apnea hypopnea syndrome (OSAHS), a syndrome likely determined by multigenic factors, environmental exposures, and their interactions. The evidence for a genetic basis for OSAHS has been developed from the application of progressively more quantitative methods to the study of this disorder. These have included, in roughly chronological order, descriptive studies of families with multiply affected members; studies of OSAHS prevalence among relatives of affected probands; quantification of the familial aggregation of OSAHS by comparing the prevalence of OSAHS among relatives of affected probands with that in control samples; and segregation analysis. Information from these studies has been useful in establishing a likely role for inheritance apart from familial influences related to obesity and for suggesting ways to characterize the phenotype of the disorder, an important prerequisite for linkage analysis. In parallel with human studies has been the devel-

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