Journal
CURRENT OBSTETRICS AND GYNECOLOGY REPORTS
Volume 1, Issue 3, Pages 124-137Publisher
SPRINGER
DOI: 10.1007/s13669-012-0016-5
Keywords
Endometriosis; Genetics; Heritability; Genetic epidemiology; Candidate gene; Genome-wide association study; Linkage study
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Funding
- National Institutes of Health of the United States [RO1 HD052473, RO1 HD057210]
- Australian National Health and Medical Research Council Fellowship scheme [339446, 619667]
- NHMRC [496610, APP1026033]
- Wellcome Trust Career Development Award [WT085235/Z/08/Z]
- Wellcome Trust [WT084766/Z/08/Z]
- Abbott Endocrine Ltd.
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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 pheno-typic 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.
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