Evidence of shared genetic factors in the etiology of gastrointestinal disorders and endometriosis and clinical implications for disease management
Copyright © 2023 The Authors. Published by Elsevier Inc. All rights reserved..
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.
| Errataetall: |
CommentIn: Cell Rep Med. 2023 Nov 21;4(11):101288. - PMID 37992677 |
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| Medienart: |
E-Artikel |
| Erscheinungsjahr: |
2023 |
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| Erschienen: |
2023 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:4 |
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| Enthalten in: |
Cell reports. Medicine - 4(2023), 11 vom: 21. Nov., Seite 101250 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Yang, Fei [VerfasserIn] |
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| Links: |
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| Anmerkungen: |
Date Completed 27.11.2023 Date Revised 12.02.2024 published: Print-Electronic CommentIn: Cell Rep Med. 2023 Nov 21;4(11):101288. - PMID 37992677 Citation Status MEDLINE |
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| doi: |
10.1016/j.xcrm.2023.101250 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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NLM364009586 |
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| 500 | |a CommentIn: Cell Rep Med. 2023 Nov 21;4(11):101288. - PMID 37992677 | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a Copyright © 2023 The Authors. Published by Elsevier Inc. All rights reserved. | ||
| 520 | |a 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 | ||
| 650 | 4 | |a Journal Article | |
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| 650 | 4 | |a Mendelian randomization | |
| 650 | 4 | |a clinical implications | |
| 650 | 4 | |a co-occurrence | |
| 650 | 4 | |a drug contraindications | |
| 650 | 4 | |a drug repositioning | |
| 650 | 4 | |a endometriosis | |
| 650 | 4 | |a gastrointestinal disorders | |
| 650 | 4 | |a irritable bowel syndrome | |
| 650 | 4 | |a prescription drug usage | |
| 650 | 4 | |a shared genetic components | |
| 700 | 1 | |a Wu, Yeda |e verfasserin |4 aut | |
| 700 | 1 | |a Hockey, Richard |e verfasserin |4 aut | |
| 700 | 0 | |a International Endometriosis Genetics Consortium |e verfasserin |4 aut | |
| 700 | 1 | |a Doust, Jenny |e verfasserin |4 aut | |
| 700 | 1 | |a Mishra, Gita D |e verfasserin |4 aut | |
| 700 | 1 | |a Montgomery, Grant W |e verfasserin |4 aut | |
| 700 | 1 | |a Mortlock, Sally |e verfasserin |4 aut | |
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