The search for genetic variants predisposing women to endometriosis
The search for genetic variants predisposing women to endometriosis
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DOI：
10.1097/gco.0b013e328235a5b4
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发表时间：
2007-08-01
影响因子：
2.1
通讯作者：
Guo, Sun-Wei
中科院分区：
文献类型：
--
作者：
Di, Wen;Guo, Sun-Wei
综述目的
寻找使女性易患子宫内膜异位症的基因变异受到越来越多的关注，然而在识别此类变异方面进展甚微，且已发表的研究常常相互矛盾。本综述评估了子宫内膜异位症存在遗传成分的证据，评价了基因多态性与子宫内膜异位症的连锁和关联证据，并讨论了这种重新评估对临床实践和研究的意义。
近期发现
尽管大多数家族研究存在各种方法学缺陷，例如未能控制风险因素以及病例组和对照组姐妹的数量，但子宫内膜异位症的家族聚集性似乎已得到确立。家族聚集性也可能归因于风险因素的家族聚集和/或一些具有遗传成分的中间性状。已发表的关联研究常常相互矛盾，也许反映了这些不确定性。
总结
寻找使女性易患子宫内膜异位症的基因变异引起了极大的关注，但到目前为止，它对其发病机制并没有提供太多的启示。需要进行设计更合理、方法更严谨的进一步遗传流行病学研究。
Purpose of reviewThere is a growing interest in the search for genetic variants that predispose women to endometriosis, yet little headway has been made in the identification of such variants, and published studies are often conflicting. This review evaluates the evidence for a hereditary component in endometriosis, appraises the evidence of linkage and association of genetic polymorphisms and endometriosis, and discusses the implications of this reappraisal for clinical practice and research.Recent findingsThe familial aggregation of endometriosis appears to be established although most family studies suffer from various methodological deficiencies, such as failure to control for risk factors and the number of sisters that cases and controls have. The familial aggregation could also be attributed to familial aggregation of risk factors and/or some intermediatory traits that have genetic components. The published association studies are often conflicting, perhaps reflecting these uncertainties.SummaryThe search for genetic variants predisposing women to endometriosis has generated a lot of interest, and yet so far it has not shed much light on its pathogenesis. Further genetic epidemiological studies with more solid design and methodological rigor are needed.