Objective: To identify human leukocyte antigen (HLA)-DRB1, DQA1 and DQB1 susceptible alleles and genotypes in latent autoimmune diabetes in adults (LADA) patients of Chinese Han nationality. Methods: All subjects including 652 LADA patients and 1 181 healthy controls from 1999 to 2015 in Han nationality region of Hunan province were genotyped with high resolution at HLA-DRB1, DQA1 and DQB1 locus by PCR-sequence based typing (PCR-SBT). Frequencies of genotypes between patients and controls were compared by chi square test. Results: The DQA1 susceptible allele was DQA1*03 (OR=1.23, P(c)=0.028); the DQB1 susceptible alleles were DQB1*0201 (OR=2.24, P(c)<0.001), DQB1*0303 (OR=1.30, P(c)=0.030), DQB1*0304 (OR=10.23, P(c)=0.004) and DQB1*0401(OR=1.94, P(c)<0.001); and the DRB1 susceptible alleles were DRB1*0301 (OR=2.10, P(c)<0.001), DRB1*0405(OR=1.89, P(c)<0.001) and DRB1*0901(OR=1.36, P(c)=0.008), respectively in Chinese Han nationality LADA patients. The HLA-Ⅱ susceptible genotypes were DQA1*03/05 (OR=1.81, P(c)=0.007), DQB1*0201/0201(OR=5.74, P(c)<0.001), DQB1*0201/0303 (OR=2.58, P(c)=0.010), DRB1*0301/0901(OR=3.43, P(c)=0.028) and DRB1*0901/0901 (OR=1.82, P(c)=0.021), respectively in LADA patients. DQB1*0201 and DRB1*0301 were shared susceptible alleles for Chinese Han and Caucasian LADA patients, while DQA1*03, DQB1*0303, DQB1*0304, DQB1*0401, DRB1*0405 and DRB1*0901 were specific susceptible alleles for Chinese Han LADA patients. Interestingly, the DQB1*0303 allele was susceptible in Chinese while protective in Caucasian (OR: 1.30 vs 0.29). Conclusion: Susceptible alleles are DQA1*03, DQB1*0201, DQB1*0303, DQB1*0304, DQB1*0401, DRB1*0301, DRB1*0405 and DRB1*0901, and susceptible genotypes are DQA1*03/05, DQB1*0201/0201, DQB1*0201/0303, DRB1*0301/0901 and DRB1*0901/0901 in Chinese LADA patients.
目的：鉴定中国汉族成人隐匿性自身免疫糖尿病(LADA)患者人类白细胞抗原(HLA)-DRB1、DQA1与DQB1易感等位基因及基因型。 方法：采用PCR直接测序法(PCR-SBT)，对1999至2015年主要来自湖南汉族地区652例LADA患者和1 181名健康对照的HLA-DRB1、DQA1与DQB1位点进行高分辨基因分型。分析比较LADA患者与健康对照组的基因频率。 结果：中国汉族LADA患者HLA-DQA1易感等位基因为DQA1*03(OR＝1.23，P(c)＝0.028)；DQB1易感等位基因有4种，分别为DQB1*0201(OR＝2.24，P(c)<0.001)、DQB1*0303(OR＝1.30，P(c)＝0.030)、DQB1*0304 (OR＝10.23, P(c)＝0.004)、DQB1*0401(OR＝1.94，P(c)<0.001)；DRB1易感等位基因有3种，分别为DRB1*0301 (OR＝2.10, P(c)<0.001)、DRB1*0405(OR＝1.89，P(c)<0.001)与DRB1*0901(OR＝1.36，P(c)＝0.008)。LADA患者HLA-Ⅱ类易感基因型分别为DQA1*03/05(OR＝1.81，P(c)＝0.007)、DQB1*0201/0201(OR＝5.74，P(c)<0.001)、DQB1*0201/0303(OR＝2.58，P(c)＝0.010)、DRB1*0301/0901 (OR＝3.43, P(c)＝0.028)与DRB1*0901/0901(OR＝1.82, P
Keywords: Alleles; Autoimmune diseases; Diabetes mellitus, type 1; Genotype; HLA.