Evidence of shared genetic factors in the etiology of gastrointestinal disorders and endometriosis and clinical implications for disease management

Fei Yang, Yeda Wu, Yang Wu, Richard Hockey, International Endometriosis Genetics Consortium, Jenny Doust, Gita D Mishra, Grant W Montgomery, Sally Mortlock
Cell reports. Medicine · 2023 · vol. 4(11) , pp. 101250 · doi:10.1016/j.xcrm.2023.101250 · PMID:37909040 · PMC10694629 · W4388098265
article OA: gold CC0 ⤵ 27 in-corpus citations
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⚙ AI-generated summary by claude@2026-06, 2026-06-08 ⓘ

This study identified shared genetic factors between endometriosis and gastrointestinal disorders like IBS, PUD, and GORD, suggesting common biological pathways and informing potential drug repositioning and contraindications.

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Abstract

In clinical practice, the co-existence of endometriosis and gastrointestinal symptoms is often observed. Using large-scale datasets, we report a genetic correlation between endometriosis and irritable bowel syndrome (IBS), peptic ulcer disease (PUD), gastro-esophageal reflux disease (GORD), and a combined GORD/PUD medicated (GPM) phenotype. Mendelian randomization analyses support a causal relationship between genetic predisposition to endometriosis and IBS and GPM. Identification of shared risk loci highlights biological pathways that may contribute to the pathogenesis of both diseases, including estrogen regulation and inflammation, and potential therapeutic drug targets (CCKBR; PDE4B). Higher use of IBS, GORD, and PUD medications in women with endometriosis and higher use of hormone therapies in women with IBS, GORD, and PUD, support the co-occurrence of these conditions and highlight the potential for drug repositioning and drug contraindications. Our results provide evidence of shared disease etiology and have important clinical implications for diagnostic and treatment decisions for both diseases.

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Condition tags

endometriosisirritable_bowel_syndrome

MeSH descriptors

Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Gastrointestinal Diseases Gastrointestinal Diseases Gastrointestinal Diseases Gastrointestinal Diseases Gastrointestinal Diseases Gastrointestinal Diseases Gastrointestinal Diseases Gastrointestinal Diseases Irritable Bowel Syndrome Irritable Bowel Syndrome Irritable Bowel Syndrome

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 (100)

Cited by (27)

Source provenance

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