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[阻塞性睡眠呼吸暂停综合征的遗传学方面]

[Genetic aspects of obstructive sleep apnea syndrome].

作者信息

Petruco Adriane C Mesquita, Bagnato Maurício da Cunha

机构信息

Laboratório do Sono de Maringá, Maringá, PR, Brasil.

出版信息

J Bras Pneumol. 2010 Jun;36 Suppl 2:13-6. doi: 10.1590/s1806-37132010001400005.

Abstract

The physiopathology of obstructive sleep apnea syndrome (OSAS) results from the interaction between genetic and environmental factors. The principal risk factors are obesity and age. Other relevant risk factors are craniofacial abnormalities, hypothyroidism and menopause, as well as the use of alcohol and sedatives. By virtue of its association with factors such as HLA levels, obesity, genetic syndromes, ethnicity, excessive sleepiness, alterations in ventilatory control and expression of inflammatory mediators, OSAS has been related to heritability. This chapter addresses the genetic and phenotypic variability of the disease, showing its relevance in the understanding of the physiopathology and clinical evaluation of OSAS.

摘要

阻塞性睡眠呼吸暂停综合征(OSAS)的病理生理学是由遗传和环境因素相互作用导致的。主要危险因素是肥胖和年龄。其他相关危险因素包括颅面异常、甲状腺功能减退和更年期,以及酒精和镇静剂的使用。由于OSAS与HLA水平、肥胖、遗传综合征、种族、过度嗜睡、通气控制改变和炎症介质表达等因素相关,因此它与遗传力有关。本章讨论了该疾病的遗传和表型变异性,展示了其在理解OSAS病理生理学和临床评估中的相关性。

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