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Etiopathogenetic Mechanisms in Diverticular Disease of the Colon
This article reviews epidemiological evidence of heritability and putative mechanisms in diverticular disease, with greatest attention to 3 recent studies of genetic associations with diverticular disease based on genome-wide or whole-genome sequencing studies in large patient cohorts. We provide an...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6881605/ https://www.ncbi.nlm.nih.gov/pubmed/31351939 http://dx.doi.org/10.1016/j.jcmgh.2019.07.007 |
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author | Camilleri, Michael Sandler, Robert S. Peery, Anne F. |
author_facet | Camilleri, Michael Sandler, Robert S. Peery, Anne F. |
author_sort | Camilleri, Michael |
collection | PubMed |
description | This article reviews epidemiological evidence of heritability and putative mechanisms in diverticular disease, with greatest attention to 3 recent studies of genetic associations with diverticular disease based on genome-wide or whole-genome sequencing studies in large patient cohorts. We provide an analysis of the biological plausibility of the significant associations with gene variants reported and highlight the relevance of ANO1, CPI-17 (aka PPP1R14A), COLQ6, COL6A1, CALCB or CALCA, COL6A1, ARHGAP15, and S100A10 to colonic neuromuscular function and tissue properties that may result in altered compliance and predispose to the development of diverticular disease. Such studies also identify candidate genes for future studies. |
format | Online Article Text |
id | pubmed-6881605 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | Elsevier |
record_format | MEDLINE/PubMed |
spelling | pubmed-68816052019-12-03 Etiopathogenetic Mechanisms in Diverticular Disease of the Colon Camilleri, Michael Sandler, Robert S. Peery, Anne F. Cell Mol Gastroenterol Hepatol Review This article reviews epidemiological evidence of heritability and putative mechanisms in diverticular disease, with greatest attention to 3 recent studies of genetic associations with diverticular disease based on genome-wide or whole-genome sequencing studies in large patient cohorts. We provide an analysis of the biological plausibility of the significant associations with gene variants reported and highlight the relevance of ANO1, CPI-17 (aka PPP1R14A), COLQ6, COL6A1, CALCB or CALCA, COL6A1, ARHGAP15, and S100A10 to colonic neuromuscular function and tissue properties that may result in altered compliance and predispose to the development of diverticular disease. Such studies also identify candidate genes for future studies. Elsevier 2019-07-25 /pmc/articles/PMC6881605/ /pubmed/31351939 http://dx.doi.org/10.1016/j.jcmgh.2019.07.007 Text en © 2020 The Authors http://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 | Review Camilleri, Michael Sandler, Robert S. Peery, Anne F. Etiopathogenetic Mechanisms in Diverticular Disease of the Colon |
title | Etiopathogenetic Mechanisms in Diverticular Disease of the Colon |
title_full | Etiopathogenetic Mechanisms in Diverticular Disease of the Colon |
title_fullStr | Etiopathogenetic Mechanisms in Diverticular Disease of the Colon |
title_full_unstemmed | Etiopathogenetic Mechanisms in Diverticular Disease of the Colon |
title_short | Etiopathogenetic Mechanisms in Diverticular Disease of the Colon |
title_sort | etiopathogenetic mechanisms in diverticular disease of the colon |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6881605/ https://www.ncbi.nlm.nih.gov/pubmed/31351939 http://dx.doi.org/10.1016/j.jcmgh.2019.07.007 |
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