Recent insights on the genetics and epigenetics of endometriosis

Bruno Borghese; B Borghese; Krina T. Zondervan; K T Zondervan; M S Abrao; Maurício Simões Abrão; Charles Chapron; C Chapron; Daniel Vaiman; D Vaiman

doi:10.1111/cge.12897

Recent insights on the genetics and epigenetics of endometriosis

Bruno Borghese, B Borghese, Krina T. Zondervan, K T Zondervan, M S Abrao, Maurício Simões Abrão, Charles Chapron, C Chapron, Daniel Vaiman, D Vaiman

Clinical genetics · 2016 · vol. 91(2) , pp. 254–264 · doi:10.1111/cge.12897 · PMID:27753067 · W2538513776

review OA: closed CC0 ⤵ 120 in-corpus citations

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This review summarizes recent genetic and epigenetic findings in endometriosis, a disease with significant heritability and potential for novel therapeutic targets.

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Abstract

Endometriosis is a gynecologic disease affecting up to 10% of the women and a major cause of pain and infertility. It is characterized by the implantation of functional endometrial tissue at ectopic positions generally within the peritoneum. This complex disease has an important genetic component with a heritability estimated at around 50%. This review aims at providing recent insights into the genetic bases of endometriosis, and presents a detailed overview of evidence of epigenetic alterations specific to this disease. In the future, these alterations may constitute therapeutic targets for pharmacological compounds able to modify the epigenetic code.

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Condition tags

mesh:D004715endometriosisinfertility

MeSH descriptors

Endometriosis Epigenesis, Genetic Infertility, Female Endometriosis Endometriosis Endometrium Endometrium Female Humans Infertility, Female Infertility, Female Peritoneum Peritoneum

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References (100)

Cited by (50)

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