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

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 co...

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Autores principales: Yang, Fei, Wu, Yeda, Hockey, Richard, Doust, Jenny, Mishra, Gita D., Montgomery, Grant W., Mortlock, Sally
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10694629/
https://www.ncbi.nlm.nih.gov/pubmed/37909040
http://dx.doi.org/10.1016/j.xcrm.2023.101250
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author Yang, Fei
Wu, Yeda
Hockey, Richard
Doust, Jenny
Mishra, Gita D.
Montgomery, Grant W.
Mortlock, Sally
author_facet Yang, Fei
Wu, Yeda
Hockey, Richard
Doust, Jenny
Mishra, Gita D.
Montgomery, Grant W.
Mortlock, Sally
author_sort Yang, Fei
collection PubMed
description 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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spelling pubmed-106946292023-12-05 Evidence of shared genetic factors in the etiology of gastrointestinal disorders and endometriosis and clinical implications for disease management Yang, Fei Wu, Yeda Hockey, Richard Doust, Jenny Mishra, Gita D. Montgomery, Grant W. Mortlock, Sally Cell Rep Med Article 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. Elsevier 2023-10-30 /pmc/articles/PMC10694629/ /pubmed/37909040 http://dx.doi.org/10.1016/j.xcrm.2023.101250 Text en © 2023 The Authors https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Article
Yang, Fei
Wu, Yeda
Hockey, Richard
Doust, Jenny
Mishra, Gita D.
Montgomery, Grant W.
Mortlock, Sally
Evidence of shared genetic factors in the etiology of gastrointestinal disorders and endometriosis and clinical implications for disease management
title Evidence of shared genetic factors in the etiology of gastrointestinal disorders and endometriosis and clinical implications for disease management
title_full Evidence of shared genetic factors in the etiology of gastrointestinal disorders and endometriosis and clinical implications for disease management
title_fullStr Evidence of shared genetic factors in the etiology of gastrointestinal disorders and endometriosis and clinical implications for disease management
title_full_unstemmed Evidence of shared genetic factors in the etiology of gastrointestinal disorders and endometriosis and clinical implications for disease management
title_short Evidence of shared genetic factors in the etiology of gastrointestinal disorders and endometriosis and clinical implications for disease management
title_sort evidence of shared genetic factors in the etiology of gastrointestinal disorders and endometriosis and clinical implications for disease management
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10694629/
https://www.ncbi.nlm.nih.gov/pubmed/37909040
http://dx.doi.org/10.1016/j.xcrm.2023.101250
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