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结肠憩室病的遗传决定因素——一项系统综述

Genetic Determinants of Colonic Diverticulosis-A Systematic Review.

作者信息

Nehring Piotr, Przybyłkowski Adam

机构信息

Department of Gastroenterology and Internal Medicine, Medical University of Warsaw, Banacha 1a, 02-097 Warsaw, Poland.

出版信息

Genes (Basel). 2025 May 15;16(5):581. doi: 10.3390/genes16050581.

DOI:10.3390/genes16050581
PMID:40428403
Abstract

: Colonic diverticulosis is a common condition, particularly in the elderly population. While dietary habits, obesity, smoking, and physical inactivity contribute to its pathogenesis, emerging evidence highlights a genetic predisposition affecting extracellular matrix (ECM) remodeling, inflammation, and connective tissue integrity. The aim of this systematic review was to summarize genetic determinants of colonic diverticulosis. : The PubMed database was searched for original studies in humans. The inclusion criteria were named genetic factor and confirmed diverticulosis. Patients with diverticulitis and diverticular diseases were excluded from this review. : Out of 137 publications, 10 articles met the inclusion criteria: six large association studies (GWAS) and four cross-sectional studies. The genes regulating ECM turnover, including , , and , are involved in diverticulosis development. The () T allele has been associated with increased susceptibility, potentially due to its role in ECM remodeling. Similarly, () and () polymorphisms contribute to altered collagen degradation. The () variant coding modified collagen type III may promote diverticular formation. Other genes, such as (, ), affect cytoskeletal dynamics. Identified in GWAS studies, gene candidates may be grouped into blood group and immune system-related genes (, , , , , ), extracellular matrix and connective tissue genes (, , , , , ), signaling and cell communication (, , , , ), nervous system and neurodevelopment (, , , , , ), metabolism and transporters (, , , , ), lipids and cholesterol (, , ), transcription and gene regulation (, , ), apoptosis (, ), and poorly characterized genes (, , , , , , , , , , ). : There are a number of gene variants that probably predispose to colonic diverticulosis. Detailed characterization of the multigene background of diverticulosis will enable appropriate therapeutic or preventive interventions in the future.

摘要

结肠憩室病是一种常见病症,在老年人群中尤为常见。虽然饮食习惯、肥胖、吸烟和缺乏身体活动会导致其发病,但新出现的证据表明,遗传易感性会影响细胞外基质(ECM)重塑、炎症和结缔组织完整性。本系统综述的目的是总结结肠憩室病的遗传决定因素。

在PubMed数据库中检索关于人类的原始研究。纳入标准为提及遗传因素且确诊为憩室病。本综述排除了患有憩室炎和憩室疾病的患者。

在137篇出版物中,有10篇文章符合纳入标准:6项大型关联研究(全基因组关联研究,GWAS)和4项横断面研究。调节ECM周转的基因,包括[具体基因1]、[具体基因2]和[具体基因3],参与了憩室病的发展。[基因名称1]的()T等位基因与易感性增加有关,这可能是由于其在ECM重塑中的作用。同样,[基因名称2]的()和[基因名称3]的()多态性会导致胶原降解改变。编码修饰型III型胶原的[基因名称4]变体可能促进憩室形成。其他基因,如[具体基因4]([相关基因具体信息1]、[相关基因具体信息2]),影响细胞骨架动力学。在GWAS研究中确定的候选基因可分为血型和免疫系统相关基因([具体基因5]、[具体基因6]、[具体基因7]、[具体基因8]、[具体基因9]、[具体基因10])、细胞外基质和结缔组织基因([具体基因11]、[具体基因12]、[具体基因13]、[具体基因14]、[具体基因15])、信号传导和细胞通讯([具体基因16]、[具体基因17]、[具体基因18]、[具体基因19]、[具体基因20])、神经系统和神经发育([具体基因21]、[具体基因22]、[具体基因23]、[具体基因24]、[具体基因25])、代谢和转运蛋白([具体基因26]、[具体基因27]、[具体基因28]、[具体基因29]、[具体基因30])、脂质和胆固醇([具体基因31]、[具体基因32])、转录和基因调控([具体基因33]、[具体基因34]、[具体基因35])、细胞凋亡([具体基因36]),以及特征不明的基因([具体基因37]、[具体基因38]、[具体基因39]、[具体基因40]、[具体基因41]、[具体基因42]、[具体基因43]、[具体基因44]、[具体基因45]、[具体基因46])。

有许多基因变体可能易患结肠憩室病。对憩室病多基因背景的详细表征将有助于未来进行适当的治疗或预防干预。

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本文引用的文献

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Collagen (rs3134646) and ARHGAP15 (rs4662344) genetic variants may predispose to colonic diverticulosis.胶原蛋白(rs3134646)和ARHGAP15(rs4662344)基因变异可能易患结肠憩室病。
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Genetic Variants in Matrix Metalloproteinases (rs3025058) and (rs3918242) Associated with Colonic Diverticulosis.
基质金属蛋白酶基因多态性(rs3025058 和 rs3918242)与结肠憩室病的相关性研究。
Medicina (Kaunas). 2023 Nov 17;59(11):2031. doi: 10.3390/medicina59112031.
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PLoS One. 2023 May 17;18(5):e0283553. doi: 10.1371/journal.pone.0283553. eCollection 2023.
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