Genetics of endometriosis

Joe Leigh Simpson, Farideh Z Bischoff, Bischoff FZ, Aparna A. Kamat, Aparna Kamat, Kamat A, Buster JE, John E Buster, Sandra Ann Carson, Sandra A Carson, Carson SA
Obstetrics and gynecology clinics of North America · 2003 · vol. 30(1) , pp. 21–40 · doi:10.1016/s0889-8545(02)00051-7 · PMID:12699256 · W2059455531
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⚙ AI-generated summary by claude@2026-06, 2026-06-08 ⓘ

This paper examines the genetic factors associated with endometriosis, a complex gynecological condition.

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Abstract

Endometriosis long has been recognized as showing heritable tendencies, with recurrence risks of 5% to 7% for first-degree relatives. The risk indicates that polygenic and multifactorial etiology is far more likely to be the cause than mendelian inheritance. The current task is to determine the number and location of genes responsible for endometriosis. Molecular advances of the past decade make identification and elucidation of these genes a reality. The authors review the basis for concluding that endometriosis is a genetic disorder of polygenic/multifactorial inheritance. Genome-wide strategies for identifying causative genes are considered and available data on association or linkage to putative candidate genes systematically reviewed.

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Condition tags

endometriosis

MeSH descriptors

Endometriosis Endometriosis Female Genes Genetic Techniques 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 (94)

Cited by (50)

Source provenance

europepmc
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License: CC0 · commercial use OK