Riha R L, Gislasson T, Diefenbach K
Department of Sleep Medicine, Royal Infirmary Edinburgh, 51 Little France Crescent, Edinburgh, EH16 4SA, UK.
Eur Respir J. 2009 Mar;33(3):646-55. doi: 10.1183/09031936.00151008.
Obstructive sleep apnoea/hypopnoea syndrome (OSAHS) is a common condition affecting approximately 2-4% of the middle-aged population. A hereditary component to the condition has long been recognised but its genetic basis has been difficult to elucidate. Progress in determining the genotype of OSAHS is hampered by the lack of a consistent definition of phenotype and the large environmental influences on its expression. "Intermediate phenotypes", such as craniofacial structure, obesity and upper airway control, have been utilised. Multiple gene polymorphisms have been explored in association with the latter, as well as with the sequelae of OSAHS, such as hypertension and increased insulin resistance. To date, two genome-wide scans have identified potential regions that may be of interest in further defining the intermediate phenotypes. The present paper focuses on human studies with an update of the most recent work in the area, including a short discussion on methods of genetic studies.
阻塞性睡眠呼吸暂停/低通气综合征（OSAHS）是一种常见病症，影响着约2%至4%的中年人群。该病症的遗传因素早已得到认可，但其遗传基础却难以阐明。由于缺乏对表型的一致定义以及环境对其表达的巨大影响，确定OSAHS基因型的进展受到阻碍。“中间表型”，如颅面结构、肥胖和上呼吸道控制等，已被采用。人们已经探索了多种基因多态性与后者以及OSAHS后遗症（如高血压和胰岛素抵抗增加）之间的关联。迄今为止，两项全基因组扫描已经确定了可能在进一步定义中间表型方面值得关注的潜在区域。本文重点关注人类研究，并对该领域的最新工作进行了更新，包括对遗传研究方法的简短讨论。
