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Endometriosis is a heritable complex disorder that is influenced by multiple genetic and environmental factors. Identification of these genetic factors will aid a better understanding of the underlying biology of the disease. In this article, we describe different methods of studying genetic variation of endometriosis, summarize results from genetic studies performed to date and provide recommendations for future studies to uncover additional factors contributing to the heritable component of endometriosis.

Original publication




Journal article


Womens Health (Lond)

Publication Date





577 - 586


association studies, candidate gene studies, common genetic variants, functional studies, genome-wide association studies, linkage studies, rare genetic variants, rhesus macaque, sub-phenotype, twin studies, Endometriosis, Endometrium, Female, Gene Expression Regulation, Genetic Predisposition to Disease, Humans, Infertility, Female, Polymorphism, Genetic, Receptors, Estrogen, Receptors, Progesterone