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睡眠呼吸暂停的遗传学

The genetics of sleep apnea.

作者信息

Redline Susan, Tishler Peter V.

机构信息

Rainbow Babies and Childrens Hospital and Case Western Reserve University, Cleveland, OH, USA

出版信息

Sleep Med Rev. 2000 Dec;4(6):583-602. doi: 10.1053/smrv.2000.0120.

Abstract

Obstructive sleep apnea hypopnea syndrome (OSAHS) is a complex chronic condition that is undoubtedly influenced by multiple factors. Accumulating data suggest that there are strong genetic underpinnings for this condition. It has been estimated that approximately 40% of the variance in the apnea hypopnea index (AHI) may be explained by familial factors. It is likely that genetic factors associated with craniofacial structure, body fat distribution and neural control of the upper airway muscles interact to produce the OSAHS phenotype. Although the role of specific genes that influence the development of OSAHS have not yet been identified, current research in rodents suggests that several genetic systems may be important. In this chapter, we shall first define the OSAHS phenotype, and then review the evidence that suggests an underlying genetic basis of OSAHS, the risk factors for OSAHS that may be inherited, and potential candidate genes.

摘要

阻塞性睡眠呼吸暂停低通气综合征(OSAHS)是一种复杂的慢性疾病,无疑受到多种因素的影响。越来越多的数据表明,这种疾病有很强的遗传基础。据估计,呼吸暂停低通气指数(AHI)中约40%的变异可能由家族因素解释。与颅面结构、身体脂肪分布和上呼吸道肌肉神经控制相关的遗传因素可能相互作用,产生OSAHS表型。虽然尚未确定影响OSAHS发生发展的特定基因的作用,但目前对啮齿动物的研究表明,几个遗传系统可能很重要。在本章中,我们将首先定义OSAHS表型,然后回顾表明OSAHS存在潜在遗传基础的证据、可能遗传的OSAHS危险因素以及潜在的候选基因。

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