炎症性肠病相关易感基因及其作用机制的研究进展

doi:10.20223/j.cnki.1000-8535.2025.03.002

摘要/Abstract

摘要： 炎症性肠病（IBD）是一种以反复腹痛、腹泻、血便和体重降低为主要表现的慢性特发性性疾病,主要分为溃疡性结肠炎与克罗恩病两种类型。近年来,IBD的患病率随着城市化和工业化进展迅速升高,给中国和全球的公共健康带来沉重的负担。随着人类基因组技术的发展,越来越多的证据表明,遗传学因素在IBD发病过程中起着不可或缺的作用。在亚欧人群中,通过大规模全基因组关联研究现已明确了320个IBD易感基因位点。IBD易感基因在影响机体的细胞代谢、免疫功能调节、肠道上皮屏障和微生物清除等多个方面发挥着重要作用。本文就IBD相关易感基因及其多态性的研究进展进行综述,从基因层面揭示IBD发病的分子机制,并对探索IBD因人而异的个性化治疗方案提供帮助。

关键词: 炎症性肠病, 易感基因, 发病机制

Abstract: Inflammatory bowel disease（IBD）is a chronic idiopathic disease characterized by recurrent abdominal pain,diarrhea,bloody stools,and weight loss．Ulcerative colitis and Crohn's disease represent the two main types of IBD．In recent years,the prevalence of IBD has increased rapidly with the advancement of industrialization,imposing a heavy burden on public health in China and globally．Currently,with the development of genomics,a growing body of evidence suggests that genetic factors play an indispensable role in the pathogenesis of IBD．In the Eurasian population,320 IBD susceptibility gene loci have been identified through large-scale genome-wide association studies．IBD susceptibility genes play a crucial role in various aspects affecting cellular metabolism,immune function regulation,intestinal epithelial barrier,and microbial clearance．This article reviews the susceptibility genes and their polymorphisms associated with IBD,revealing the molecule mechanisms of IBD from gene perspectives and contributing to the development of personalized treatment strategies tailored to individual IBD patients．

Key words: inflammatory bowel disease, susceptibility genes, pathogenesis

赵雨晨, 黄琛. 炎症性肠病相关易感基因及其作用机制的研究进展[J]. 广州医药, 2025, 56(3): 300-309.

ZHAO Yuchen, HUANG Chen. Research progress on susceptibility genes and their mechanisms in inflammatory bowel disease[J]. Guangzhou Medical Journal, 2025, 56(3): 300-309.

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