Kaparianos A, Sampsonas F, Karkoulias K, Spiropoulos K
Department of Internal Medicine, Division of Pneumology, University Hospital of Patras 26500 Rio-Patras, Greece.
Neth J Med. 2006 Sep;64(8):280-9.
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.
阻塞性睡眠呼吸暂停（OSA）是一种复杂的疾病实体，受遗传因素的强烈影响，尤其是那些影响肥胖和脂肪分布、上气道肌肉张力、颅面形态、通气控制和睡眠的因素，从而产生OSA表型。OSA也可被视为一种代谢综合征，它会对多个器官系统产生不利影响，尤其是心血管系统和大脑。诊断OSA最广泛使用的临床指标是通过多导睡眠图计算得出的呼吸暂停低通气指数。其35%至40%的变异可归因于遗传因素。因此，识别和阐明与OSA发病机制相关的基因成为广泛研究的课题，并可能导致开发出对OSA自然病程具有有益作用的治疗药物。
