Heritability of polycystic ovary syndrome in a Dutch twin-family study
Heritability of polycystic ovary syndrome in a Dutch twin-family study
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DOI：
10.1210/jc.2005-1494
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发表时间：
2006-06-01
影响因子：
5.8
通讯作者：
Boomsma, D. I.
中科院分区：
文献类型：
--
作者：
Vink, J. M.;Sadrzadeh, S.;Boomsma, D. I.
背景：多囊卵巢综合征（PCOS）是育龄妇女最常见的内分泌疾病之一。基于病例的家族聚类，有证据表明 PCOS 存在遗传成分。目的：在本研究中，估计了 PCOS 的遗传力。设计/参与者：来自在荷兰双胞胎登记处登记的 1332 名同卵双胞胎（本质上相同）和 1873 名异卵双胞胎/双胞胎的单胞姐妹（平均共享 50% 的分离基因）的数据 被使用。 PCOS 的定义是月经周期少于 9 个且有痤疮或多毛症，与 2003 年鹿特丹共识一致。 结果：结果表明，家族因素对 PCOS 有很大影响。同卵双胞胎姐妹（四方相关性 0.71）与 PCOS 的相似性大约是异卵双胞胎和其他姐妹（四方相关性 0.38）的两倍。单变量分析表明遗传因素对 PCOS 的变异有很大影响。接下来，对月经稀发、痤疮和多毛症进行三变量遗传分析。该分析证实PCOS的家族因素是由遗传因素造成的。结论：本研究证明遗传因素对PCOS的发病机制有很大影响，证明了寻找易感基因的合理性。
Background: Polycystic ovary syndrome ( PCOS) is one of the most common endocrine disorders among women of reproductive age. There is evidence for a genetic component in PCOS based on familial clustering of cases.Objective: In the present study, the heritability of PCOS was estimated.Design/Participants: Data from 1332 monozygotic twins ( enetically identical) and 1873 dizygotic twins/singleton sisters of twins (who share on average 50% of their segregating genes) registered with The Netherlands Twin Register were used. PCOS was defined as less than nine menstrual cycles and acne or hirsutism in agreement with the 2003 Rotterdam consensus.Results: Results point to a strong contribution of familial factors to PCOS. The resemblance in monozygotic twin sisters (tetrachoric correlation 0.71) for PCOS was about twice as large as in dizygotic twin and other sisters ( tetrachoric correlation 0.38). Univariate analyses point to strong contributions of genetic factors to the variance in PCOS. Next, a trivariate genetic analysis of oligomenorrhea, acne, and hirsutism was carried out. This analysis confirmed that the familial component in PCOS is due to genetic factors.Conclusions: This study demonstrated a large influence of genetic factors to the pathogenesis of PCOS, justifying the search for susceptibility genes.