Obstructive sleep apnoea (OSA) is a complex disease entity strongly influenced by genetic factors, especially those that affect obesity and fat distribution, upper airway muscle tone, craniofacial morphology, ventilatory control and sleep, giving rise to the OSA phenotype. OSA can also be considered a metabolic syndrome which adversely affects multiple organ systems, especially the cardiovascular system and the brain. The most widely used clinical marker for the diagnosis of OSA is the apnoea-hypopnoea index, calculated by polysomnography. A percentage of 35 to 40% of its variance can be attributed to genetic factors. Therefore, the identification and elucidation of the genes implicated in the pathogenesis of OSA becomes a matter of extensive research and could lead to the development of therapeutic agents that can have a beneficial effect on the natural course of OSA.

译文

阻塞性睡眠呼吸暂停 (OSA) 是一种复杂的疾病,受到遗传因素的强烈影响,尤其是那些影响肥胖和脂肪分布,上呼吸道肌张力,颅面形态,通气控制和睡眠的因素,从而引起OSA表型。OSA也可以被认为是一种代谢综合征,它会对多个器官系统 (尤其是心血管系统和大脑) 产生不利影响。诊断OSA最广泛使用的临床标志物是通过多导睡眠图计算的呼吸暂停-低通气指数。其方差的35% 至40% 的百分比可归因于遗传因素。因此,鉴定和阐明与OSA发病机理有关的基因已成为广泛研究的问题,并可能导致开发可对OSA自然过程产生有益作用的治疗剂。

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