Heritability of OSA in a Rural Population
Heritability of OSA in a Rural Population
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DOI：
10.1378/chest.15-0843
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发表时间：
2016-01-01
期刊：
影响因子：
9.6
通讯作者：
Lorenzi-Filho, Geraldo
中科院分区：
文献类型：
--
作者：
de Paula, Lilian K. G.;Alvim, Rafael O.;Lorenzi-Filho, Geraldo
背景：OSA具有家族聚集模式，表明它可能部分由遗传成分引起。然而，通过对确诊OSA的城市人群肥胖先证家庭的研究，估计了OSA的遗传力。本遗传流行病学研究的目的是研究从一般农村人口中确定的家庭，以确定OSA遗传力的无偏估计。方法：我们研究了生活在巴西东南部小农村城市巴彭迪的家庭样本。研究人员对参与者进行了人体测量、体格检查、爱普沃斯嗜睡量表、葡萄糖和胆固醇测定的血液样本以及夜间家庭便携式监测。结果：我们研究了来自91个家庭的587名参与者（399名女性），中位数（四分位数间距[IQR]）为每个家庭4（2-8）名参与者。人群年龄中位数为44岁（IQR， 29-55岁），BMI中位数为25.0 kg/m(2) （IQR, 22.1-28.6 kg/m(2)）。以呼吸暂停低通气指数（AHI） bb0.5 /h定义的OSA在18.6%的样本中被诊断。所有分析的数据均拟合了模型I（无协变量效应）和模型II（有协变量效应）两个多基因模型。模型1和模型2的AHI遗传率估计分别为0.23和0.25。协变量（年龄、性别和BMI）对AHI的遗传力估计没有显著影响。结论：在农村低水平肥胖人群中，AHI的遗传率为中等水平（25%）。
BACKGROUND: OSA has a familial aggregation pattern indicating that it can be partially caused by a genetic component. However, the heritability of OSA has been estimated based on the study of families of obese probands of urban populations with established OSA diagnosis. The objective of this genetic-epidemiologic study is to study families ascertained from a general rural population to determine an unbiased estimate of OSA heritability.METHODS: We studied a sample of families living in Baependi, a small rural southeastern Brazilian city. Participants were assessed for anthropometric measurements, physical examination, Epworth Sleepiness Scale, blood samples for glucose and cholesterol determination, and overnight home portable monitoring.RESULTS: We studied 587 participants (399 women) from 91 families, with a median (interquartile range [IQR]) of 4 (2-8) participants per family. The median age of the population was 44 years (IQR, 29-55 years) and median BMI was 25.0 kg/m(2) (IQR, 22.1-28.6 kg/m(2)). OSA, defined by apnea-hypopnea index (AHI) > 5/h, was diagnosed in 18.6% of the sample. Two polygenic models, model I (no covariate effects) and model II (with covariate effects), were fitted to the data in all analyses. Heritability estimates for AHI were 0.23 and 0.25 for model I and II, respectively. Covariates (age, sex, and BMI) showed no significant effects on the heritability estimate for AHI.CONCLUSIONS: The heritability of AHI in a rural population with low levels of obesity is intermediate (25%).