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1A型糖尿病(T1ADM)最重要的易感基因是人类白细胞抗原(HLA)基因,尤其是HLAⅡ类基因DQ/DR。在亚洲和欧美人群中,HLA DQ/DR易感基因的特征为:亚洲人群中DQβ链上第57位的天冬氨酸对T1ADM保护效应不明显。欧美人群中DQ2和DQ8易感性最强,亚洲人群中DQ4和DQ9易感性最强,而两种人群中DRB1*0301和DRB1*0401均常分别与DQ2和DQ8连锁在一起构成易感性最强的单倍型。DQB1*0302、DQA1*0501、DRB1*0401,*0402,*0407均为欧美T1ADM人群的易感基因,但在亚洲T1ADM中并未发现明显的易感性;相反,DQB1*0401在欧美高加索人种中作为保护基因,但在亚洲人群中表现为易感基因,且DRB1*09亦可能与亚洲人群T1ADM相关,但其独立性尚存争议。
The most important susceptibility genes of type 1 diabetes mellitus (T1ADM) are human leukocyte antigen (HLA) genes, especially HLA class II genes DQ / DR. In Asian and European populations, HLA DQ / DR susceptibility genes are characterized by the fact that aspartic acid at position 57 on the DQβ chain in Asia has no protective effect on T1ADM. DQ2 and DQ8 were the most susceptible in European and American populations, while DQ4 and DQ9 were the most susceptible in Asian populations. However, DRB1 * 0301 and DRB1 * 0401 were often linked to DQ2 and DQ8 respectively in two populations to constitute the most susceptible Haplotypes. DQB1 * 0302, DQA1 * 0501, DRB1 * 0401, * 0402, * 0407 were susceptible genes in T1ADM population of Europe and the United States, but no obvious susceptibility was found in T1ADM Asia. On the contrary, DQB1 * 0401 was highly expressed in European and American Caucasians As a protective gene, but appears to be a susceptibility gene in the Asian population, and DRB1 * 09 may also be associated with T1ADM in Asian populations, but its independence is still controversial.