Department of Radiology, Semmelweis University, 78/A Ulloi street, 1082, Budapest, Hungary.
Complex Disease and Genome Epidemiology Branch, Department of Public Health Science, School of Public Health, Seoul National University, Seoul, Republic of Korea.
Respir Res. 2019 Jun 17;20(1):125. doi: 10.1186/s12931-019-1095-x.
Obstructive sleep apnoea (OSA) is one of the major sources of the excessive daily sleepiness, cognitive dysfunction, and it increases cardiovascular morbidity and mortality. Previous studies suggested a possible genetic influence, based on questionnaires but no objective genetic study was conducted to understand the exact variance underpinned by genetic factors.
Seventy-one Hungarian twin pairs involved from the Hungarian Twin Registry (48 monozygotic, MZ and 23 dizygotic, DZ pairs, mean age 51 ± 15 years) underwent overnight polysomnography (Somnoscreen Plus Tele PSG, Somnomedics GMBH, Germany). Apnoea hypopnea index (AHI), respiratory disturbance index (RDI) and oxygen desaturation index (ODI) were registered. Daytime sleepiness was measured with the Epworth Sleepiness Scale (ESS). Bivariate heritability analysis was applied.
The prevalence of OSA was 41% in our study population. The heritability of the AHI, ODI and RDI ranged between 69% and 83%, while the OSA, defined by an AHI ≥5/h, was itself 73% heritable. The unshared environmental component explained the rest of the variance between 17% and 31%. Daytime sleepiness was mostly determined by the environment, and the variance was influenced in 34% by the additive genetic factors. These associations were present after additional adjustment for body mass index.
OSA and the indices of OSA severity are heritable, while daytime sleepiness is mostly influenced by environmental factors. Further studies should elucidate whether close relatives of patients with OSA may benefit from early family risk based screening.
阻塞性睡眠呼吸暂停(OSA)是导致日间过度嗜睡、认知功能障碍的主要原因之一,它增加了心血管发病率和死亡率。先前的研究基于问卷调查提出了可能存在遗传影响,但没有进行客观的遗传研究来了解遗传因素所支撑的确切变异。
71 对来自匈牙利双胞胎登记处的匈牙利双胞胎(48 对同卵双胞胎,MZ 和 23 对异卵双胞胎,MZ 和 23 对异卵双胞胎,平均年龄 51±15 岁)参与了整夜多导睡眠图(Somnoscreen Plus Tele PSG,Somnomedics GMBH,德国)。记录了呼吸暂停低通气指数(AHI)、呼吸干扰指数(RDI)和氧减饱和指数(ODI)。日间嗜睡通过 Epworth 嗜睡量表(ESS)进行测量。应用双变量遗传分析。
在我们的研究人群中,OSA 的患病率为 41%。AHI、ODI 和 RDI 的遗传率在 69%至 83%之间,而定义为 AHI≥5/h 的 OSA 本身的遗传率为 73%。未共享的环境成分解释了其余 17%至 31%的变异。日间嗜睡主要由环境决定,环境因素对 34%的变异有影响。这些关联在额外调整体重指数后仍然存在。
OSA 和 OSA 严重程度的指数是可遗传的,而日间嗜睡主要受环境因素的影响。进一步的研究应该阐明,OSA 患者的近亲是否可能受益于基于家庭风险的早期筛查。