Faculty Opinions recommendation of Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism.

Edgardo Rolla
In: Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · 2019 · doi:10.3410/f.727650537.793557762 · W4255896584
dataset OA: closed CC0
View on OpenAlex View at publisher
⚙ AI-generated summary by claude@2026-06, 2026-06-08 ⓘ

This meta-analysis of 17,045 endometriosis cases and 191,596 controls identified five novel loci associated with the condition, implicating genes involved in hormone metabolism.

One-sentence paraphrase of the abstract; not a substitute for reading it. No clinical advice. How this works

Abstract

Endometriosis is a heritable hormone-dependent gynecological disorder, associated with severe pelvic pain and reduced fertility; however, its molecular mechanisms remain largely unknown.Here we perform a meta-analysis of 11 genome-wide association case-control data sets, totalling 17,045 endometriosis cases and 191,596 controls.In addition to replicating previously reported loci, we identify five novel loci significantly associated with endometriosis risk (Po5 Â 10 À 8 ), implicating genes involved in sex steroid hormone pathways (FN1, CCDC170, ESR1, SYNE1 and FSHB).Conditional analysis identified five secondary association signals, including two at the ESR1 locus, resulting in 19 independent single nucleotide polymorphisms (SNPs) robustly associated with endometriosis, which together explain up to 5.19% of variance in endometriosis.These results highlight novel variants in or near specific genes with important roles in sex steroid hormone signalling and function, and offer unique opportunities for more targeted functional research efforts.

My notes (saved in your browser only)

Condition tags

endometriosis

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 (64)

Source provenance

openalex
last seen: 2026-06-10T17:14:06.276822+00:00
unpaywall
last seen: 2026-06-02T02:00:03.124865+00:00
License: CC0 · commercial use OK