Department of Colorectal Surgery, Royal Devon University Healthcare Foundation Trust, Exeter, UK.
Department of Surgery, Lankenau Medical Center and Lankenau Institute for Medical Research, Wynnewood, Pennsylvania, USA.
BJS Open. 2024 May 8;8(3). doi: 10.1093/bjsopen/zrae032.
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.
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.
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.
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.
憩室病是一种正常的结肠解剖变异，在 80 岁以上的西方化人群中超过 70%存在。大约 3%的人会在其一生中患上憩室炎。许多患者表现为急症，发病率高，需要大量的医疗资源。憩室病是结肠镜检查中最常见的发现，有导致高发病率和医疗负担的潜力。因此，需要更好地了解憩室病的病因和发病机制。研究表明，憩室病的形成有 40-50%的遗传易感性。本综述的目的是阐述已鉴定的基因座和环境因素的假设功能影响。
使用 PubMed、MEDLINE 和 Embase 进行系统文献综述。使用的医学主题词是：“憩室病、憩室炎、憩室病、基因组学、遗传学和表观遗传学”。对灰色文献的回顾确定了环境因素。
在 995 篇文章中，有 59 篇符合纳入标准。年龄、肥胖和吸烟是强烈相关的环境危险因素。结肠壁的内在因素与憩室的存在有关。确定了有兴趣的遗传途径和环境危险因素。COLQ、FAM155A、PHGR1、ARHGAP15、S100A10 和 TNFSF15 基因是进一步研究的最强候选基因。
越来越多的证据支持基因组学在憩室病谱中的作用。具有人口统计学背景的基因组学、表观遗传学和组学研究将有助于提高对这种复杂疾病的理解和管理。
