Gaultier C
Service de Physiologie, INSERM E9835, Hôpital Robert Debré, Université Paris VII.
Rev Neurol (Paris). 2003 Nov;159(11 Suppl):6S98-101.
The obstructive apnea syndrome (OSA) is considered as a complex genetic disorder. Descriptive studies from several countries have consistently show familial aggregation of the apnea-hypopnea index and symptoms of OSA in both adults and children. Phenotypic markers of OSA have been identifies such as upper airway anomalies, abnormal breathing control, and obesity through which genes might act to increase susceptibility to OSA. The genetics of OSA may differ among racial groups. Two approaches have recently been used to investigate the genetics of OSA: a segregation analysis and a whole genome scan. Data suggested a common causal pathway regulating both OSA and obesity in Caucasian families.
阻塞性睡眠呼吸暂停综合征（OSA）被认为是一种复杂的遗传性疾病。来自多个国家的描述性研究一致表明，成人和儿童的呼吸暂停低通气指数及OSA症状存在家族聚集性。OSA的表型标志物已被确定，如气道异常、呼吸控制异常和肥胖，基因可能通过这些标志物增加患OSA的易感性。OSA的遗传学在不同种族群体中可能存在差异。最近有两种方法被用于研究OSA的遗传学：分离分析和全基因组扫描。数据表明，在白种人家庭中，存在一条调节OSA和肥胖的共同因果途径。
