Genetics of endometriosis: a comprehensive review

Danilo Deiana, Stefano Gessa, Michela Anardu, Angelos Daniilidis, Aris Daniilidis, Luigi Nappi, Maurizio N D'Alterio, Maurizio Nicola D’Alterio, Alessandro Pontis, Stefano Angioni
Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology · 2019 · vol. 35(7) , pp. 553–558 · doi:10.1080/09513590.2019.1588244 · PMID:30909768 · W2924977650
review OA: closed CC0 ⤵ 43 in-corpus citations
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⚙ AI-generated summary by claude@2026-06, 2026-06-09 ⓘ

This review evaluates genetic studies on endometriosis, noting that while family studies suggest a genetic component, candidate gene research remains inconsistent, potentially benefiting from new technologies.

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Abstract

This review aimed to critically evaluate the review, observational, cohort, and case-control studies performed so far in order to assess the association between endometriosis and genetics. The search strategies used included an online search of the MEDLINE database and a manual search of relevant publications and reviews. Additional reports were collected by systematically reviewing all references from the retrieved papers. Family studies have long suggested that genetic factors play a role in the etiology of endometriosis. Nevertheless, until now, studies on candidate genes have revealed inconsistent and contradictory evidence, leading to more questions rather than clear answers. It is possible that recent technological improvements in genetic evaluation could allow for a better understanding of the pathogenic mechanisms of endometriosis in the near future.

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Condition tags

mesh:D004715endometriosis

MeSH descriptors

Endometriosis Case-Control Studies Databases, Genetic Endometriosis Female Humans

Citation neighborhood

Papers in the corpus that this work cites (lower rings, blue) and that cite this one (upper rings, green). Dot size scales with the paper's in-corpus citation count — bigger dot = more influential within the endo/adeno field. Click a dot to open that paper. [ expand to 2 hops ] — adds papers reached through this work's immediate citers/citees. Heavier; up to 60 extra dots.

References (56)

Cited by (43)

Source provenance

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License: CC0 · commercial use OK