Genetic and environmental influences in obstructive sleep apnoea hypopnoea syndrome

摘要

Obstructive sleep apnoea hypopnoea syndrome (OSAHS) is a multifactorial and complex disease. There is a growing body of evidence demonstrating that genetic factors influence the expression of OSAHS. Lack of a consistent definition of the OSAHS phenotype and incomplete understanding of the environmental influences on its expression hinder progress in determination of the OSAHS genotype. In order to elucidate its genetic basis, the OSAHS phenotype can be separated into intermediate phenotypes, based on craniofacial morphology, obesity, susceptibility to sleepiness, ventilatory parameters and upper airway control. Identification of the genetic systems that influence more than one of the intermediate phenotypes may facilitate better understanding of mechanisms underlying OSAHS and lead to formulation of pharmacological interventions