乳糜泻遗传易感基因的研究进展  

Research progress on genetic susceptibility genes related to celiac disease

作　　者：薛生龙 史甜 高峰[2,3] XUE Sheng-long;SHI Tian;GAO Feng(College of Life Science and Technology,Xinjiang University,Urumqi 830000,China;Department of Gastroenterology,People's Hospital of Urumqi Uygur Autonomous Region,Urumqi 830001,China;Urumqi Clinical Medical Research Center for Digestive Diseases,Urumqi 830001,China)

机构地区：[1]新疆大学生命科学与技术学院,乌鲁木齐830000 [2]新疆维吾尔自治区人民医院消化科,乌鲁木齐830001 [3]新疆消化系统疾病临床医学研究中心,乌鲁木齐830001

出　　处：《现代免疫学》2025年第1期74-81,共8页Current Immunology

基　　金：国家自然科学基金地区基金项目(82260116)。

摘　　要：乳糜泻(celiac disease,CeD)是一种由遗传易感基因携带者摄入含麸质蛋白的谷物后引起的自身免疫性小肠疾病。遗传因素在其发病过程中发挥重要作用。几乎所有的CeD患者都携带HLA-DQ2/DQ8,其占CeD约40%的遗传致病原因,其余60%病例由大量的非HLA基因决定。全基因组关联研究(genome-wide association study,GWAS)已经发现超过50个非HLA基因与CeD发生有关,但目前发现的非HLA基因只能解释约15%的遗传易感原因,仍有大量的非HLA基因没被发现。文章着重介绍CeD遗传易感基因的研究进展,为深入了解CeD的发病机制并为后续的诊断和治疗提供一定的思路和方法。Celiac disease(CeD)is a type of intestine autoimmune disease caused by the intake of grains containing gluten protein in susceptible gene carriers.Genetic factors play an important role in the pathogenesis.Almost all CeD patients carry HLA-DQ2/DQ8,which accounts for about 40%of the disease genetic causes,while the remaining 60%of cases are attributed to a large number of non-HLA genes.The genome-wide association study(GWAS)has found that over 50 non-HLA genes are associated with CeD pathogenesis,but currently discovered non-HLA genes can only explain about 15%of genetic susceptibility,and there are a large number of non-HLA genes that yet to be discovered.This review focuses on the research progress of CeD susceptible genes,providing ideas and methods for a deeper understanding of the pathogenesis of CeD and for subsequent diagnosis and therapy.

关 键 词：乳糜泻 人类白细胞抗原基因 非人类白细胞抗原基因 

分 类 号：R392.2[医药卫生—免疫学]