Genetic, epigenetic and environmental factors in diverticular disease: systematic review.

Autor:	Humphrey HN; Department of Colorectal Surgery, Royal Devon University Healthcare Foundation Trust, Exeter, UK., Sibley P; Department of Colorectal Surgery, Royal Devon University Healthcare Foundation Trust, Exeter, UK., Walker ET; Department of Colorectal Surgery, Royal Devon University Healthcare Foundation Trust, Exeter, UK., Keller DS; Department of Surgery, Lankenau Medical Center and Lankenau Institute for Medical Research, Wynnewood, Pennsylvania, USA., Pata F; Department of Pharmacy, Health and Nutritional Sciences, University of Calabria, Rende, Italy., Vimalachandran D; Department of Molecular & Cancer Medicine, Institute of Cancer Medicine, University of Liverpool, Liverpool, UK.; Department of Colorectal Surgery, Countess of Chester Hospital NHS Foundation Trust, Chester, UK., Daniels IR; Department of Colorectal Surgery, Royal Devon University Healthcare Foundation Trust, Exeter, UK., McDermott FD; Department of Colorectal Surgery, Royal Devon University Healthcare Foundation Trust, Exeter, UK.
Jazyk:	angličtina
Zdroj:	BJS open [BJS Open] 2024 May 08; Vol. 8 (3).
DOI:	10.1093/bjsopen/zrae032
Abstrakt:	Background: Diverticulosis is a normal anatomical variant of the colon present in more than 70% of the westernized population over the age of 80. Approximately 3% will develop diverticulitis in their lifetime. Many patients present emergently, suffer high morbidity rates and require substantial healthcare resources. Diverticulosis is the most common finding at colonoscopy and has the potential for causing a significant morbidity rate and burden on healthcare. There is a need to better understand the aetiology and pathogenesis of diverticular disease. Research suggests a genetic susceptibility of 40-50% in the formation of diverticular disease. The aim of this review is to present the hypothesized functional effects of the identified gene loci and environmental factors. Methods: A systematic literature review was performed using PubMed, MEDLINE and Embase. Medical subject headings terms used were: 'diverticular disease, diverticulosis, diverticulitis, genomics, genetics and epigenetics'. A review of grey literature identified environmental factors. Results: Of 995 articles identified, 59 articles met the inclusion criteria. Age, obesity and smoking are strongly associated environmental risk factors. Intrinsic factors of the colonic wall are associated with the presence of diverticula. Genetic pathways of interest and environmental risk factors were identified. The COLQ, FAM155A, PHGR1, ARHGAP15, S100A10, and TNFSF15 genes are the strongest candidates for further research. Conclusion: There is increasing evidence to support the role of genomics in the spectrum of diverticular disease. Genomic, epigenetic and omic research with demographic context will help improve the understanding and management of this complex disease. (© The Author(s) 2024. Published by Oxford University Press on behalf of BJS Foundation Ltd.)
Databáze:	MEDLINE
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