Genetic factors contribute to the risk of developing endometriosis
Genetic factors contribute to the risk of developing endometriosis
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DOI：
10.1093/humrep/17.3.555
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发表时间：
2002-03-01
影响因子：
6.1
通讯作者：
Stefansson, K
中科院分区：
文献类型：
--
作者：
Stefanson, H;Geirsson, RT;Stefansson, K
背景：子宫内膜异位症是已知的集群内的核心家庭。冰岛有庞大的人口家谱数据库，可以评估家庭聚集的程度。方法和结果：应用几个措施的熟悉，我们证明了750名妇女子宫内膜异位症明显比匹配的对照组更相互关联。姐妹篇的风险比为5.20（P < 0.001），表兄弟姐妹的风险比为1.56（P = 0.003）。患者的平均亲属关系系数显著高于1000组750名配对对照者的平均亲属关系系数（P < 0.001），排除一级亲属的影响后仍有显著性差异（P < 0.05）。在过去的不同时间点，将解释患者组所需的最小祖先数量与解释对照组所需的最小祖先数量进行比较。患者组的最小创始人数量显著小于对照组。受影响的堂兄弟姐妹可能是父系联系的，也可能是母系联系的。结论：这是第一个基于人群的研究，使用广泛的家谱数据库来检查遗传因素对子宫内膜异位症的影响。存在遗传因素，近亲和远亲的风险增加，以及母亲和父亲遗传的明确亲属因素。
BACKGROUND: Endometriosis is known to cluster within nuclear families. The extent of familial clustering can be evaluated in Iceland with its large population-based genealogical database. METHODS AND RESULTS: Applying several measures of familiality we demonstrated that 750 women with endometriosis were significantly more interrelated than matched control groups. The risk ratio for sisters was 5.20 (P < 0.001) and for cousins 1.56 (P = 0.003). The average kinship coefficient for the patients was significantly higher than that calculated for 1000 sets of 750 matched controls (P < 0.001) and this remained significant when contribution from first-degree relatives was excluded (P < 0.05). The minimum number of ancestors required to account for the group of patients was compared with the minimum number of ancestors required to account for the control groups at different time points in the past. The minimum number of founders for the group of patients was significantly smaller than for the control groups. Affected cousin pairs were as likely to be paternally connected as maternally connected. CONCLUSIONS: This is the first population-based study using an extensive genealogy database to examine the genetic contribution to endometriosis. A genetic factor is present, with a raised risk in close and more distant relatives, and a definite kinship factor with maternal and paternal inheritance contributing.