Insights into Assessing the Genetics of Endometriosis.
Insights into Assessing the Genetics of Endometriosis.
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DOI：
10.1007/s13669-012-0016-5
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发表时间：
2012-09
影响因子：
0.5
通讯作者：
Zondervan, Krina T
中科院分区：
文献类型：
--
作者：
Rahmioglu, Nilufer;Missmer, Stacey A;Montgomery, Grant W;Zondervan, Krina T
子宫内膜异位症是一种由多种遗传和环境因素相互作用引起的复杂疾病。通过假设驱动的候选基因研究，已经广泛研究了潜在的子宫内膜异位症遗传成分的遗传变异，这种方法通常被证明是固有的困难和问题，原因有很多。最近，通过在子宫内膜异位症研究领域的重大合作努力，无假设的全基因组方法已经开始为导致子宫内膜异位症发展的潜在途径提供新的见解，并突出了该疾病的表型异质性。这篇综述总结了最近的研究调查的遗传变异有助于子宫内膜异位症，特别侧重于全基因组的方法，并讨论了有前途的遗传研究的未来方向。
Endometriosis is a complex disease arising from the interplay between multiple genetic and environmental factors. The genetic variants potentially underlying the hereditary component of endometriosis have been widely investigated through hypothesis-driven candidate gene studies, an approach that generally has proven to be inherently difficult and problematic for a number of reasons. Recently, through major collaborative efforts in the endometriosis research field, hypothesis-free genome-wide approaches have started to provide new insights into potential pathways leading to development of endometriosis, as well as highlighting the phenotypic heterogeneity of the condition. This review summarizes the most recent studies investigating the genetic variation contributing to endometriosis, with a particular focus on genome-wide approaches, and discusses promising future directions of genetic research.