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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...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2023
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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. |
format | Online Article Text |
id | pubmed-10694629 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Elsevier |
record_format | MEDLINE/PubMed |
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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