Stefansson H, Geirsson R T, Steinthorsdottir V, Jonsson H, Manolescu A, Kong A, Ingadottir G, Gulcher J, Stefansson K
DeCode Genetics, Lynghals 1, Reykjavik, IS-110, Iceland.
Hum Reprod. 2002 Mar;17(3):555-9. doi: 10.1093/humrep/17.3.555.
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.
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.
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.
已知子宫内膜异位症在核心家庭中呈聚集性。在冰岛，利用其庞大的基于人群的家谱数据库可以评估家族聚集的程度。
应用多种家族性测量方法，我们证明750例子宫内膜异位症女性之间的亲缘关系明显高于匹配的对照组。姐妹的风险比为5.20（P < 0.001），表亲的风险比为1.56（P = 0.003）。患者的平均亲缘系数显著高于为1000组750名匹配对照计算得出的系数（P < 0.001），当排除一级亲属的贡献时，这一差异仍具有统计学意义（P < 0.05）。将解释患者组所需的最少祖先数量与过去不同时间点解释对照组所需的最少祖先数量进行比较。患者组的最少奠基者数量显著少于对照组。受影响的表亲对父系关联和母系关联的可能性相同。
这是第一项利用广泛的家谱数据库研究基因对子宫内膜异位症贡献的基于人群的研究。存在一个遗传因素，在近亲及远亲中风险均升高，并且存在一个明确的亲缘因素，母系和父系遗传均有贡献。
