The genetic epidemiology of joint hypermobility - A population study of female twins
The genetic epidemiology of joint hypermobility - A population study of female twins
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DOI：
10.1002/art.20376
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发表时间：
2004-08-01
影响因子：
--
通讯作者：
MacGregor, AJ
中科院分区：
文献类型：
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作者：
Hakim, AJ;Cherkas, LF;MacGregor, AJ
Objective.采用经典的双胞胎研究设计，评估遗传因素对一个成年人群体中关节过度活动的影响。从英国St托马斯成人双胞胎登记处登记的483对21-81岁的同卵（MZ）和472对异卵（DZ）双胞胎女性中获得关于关节过度活动的自我报告问卷以及年龄、身高、体重、雌激素替代治疗和绝经状态的数据。MZ双胞胎和DZ双胞胎的过度活动的总患病率分别为19.5%和22.1%。关节过度活动的患病率随年龄增长而下降，从20-30岁受试者的34%下降到60岁或以上受试者的18.4%。与双胞胎相比，MZ双胞胎中观察到关节过度活动的一致性显著更高（60%对36%），与遗传影响一致。在方差成分分析中，年龄和体重指数调整的关节过度活动的遗传度估计为70%（95%置信区间57-89%）。遗传因素对成年女性人群的关节过度活动有很大的影响。
Objective. To estimate the genetic influence on joint hypermobility in an unselected population using a classic twin study design.Methods. A self-report questionnaire on joint hypermobility as well as data on age, height, weight, estrogen replacement therapy, and menopause status were obtained from 483 monozygotic (MZ) and 472 dizygotic (DZ) unselected female twin pairs ages 21-81 years who were registered with the St Thomas' Adult Twin Registry in the UK.Results. The overall prevalence of hypermobility was 19.5% in MZ twins and 22.1% in DZ twins. The prevalence of hypermobile joints declined with age, falling from 34% in subjects ages 20-30 years to 18.4% in those ages 60 years or older. Significantly greater concordance for joint hypermobility was observed in the MZ twins when compared with the DZ twins (60% versus 36%), consistent with a genetic influence. In variance components analysis, the age- and body mass index-adjusted heritability of joint hypermobility was estimated to be 70% (95% confidence interval 57-89%).Conclusion. Genetic factors have a substantial contribution to joint hypermobility in the adult female population.