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Human leucocyte antigen alleles and haplotypes and their associations with antinuclear antibodies features in Chinese patients with primary biliary cirrhosis
Author(s) -
Zhao DanTong,
Liao HuiYu,
Zhang Xin,
Liu YanMin,
Zhao Yan,
Zhang HaiPing,
Sun LiMei,
Ma YinXue,
Yan HuiPing
Publication year - 2014
Publication title -
liver international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.873
H-Index - 110
eISSN - 1478-3231
pISSN - 1478-3223
DOI - 10.1111/liv.12236
Subject(s) - primary biliary cirrhosis , haplotype , allele , anti nuclear antibody , autoantibody , human leukocyte antigen , medicine , immunology , antigen , antibody , gastroenterology , biology , genetics , gene
Background & Aims Primary biliary cirrhosis ( PBC ) is an autoimmune liver disease. Genetic factors are critical in determining susceptibility to PBC . Among human leuocyte antigen ( HLA ) genes, an association between the DRB 1*08 allele and PBC has been reported in many populations, but not in Chinese patients. Methods We investigated HLA ‐A, B, DRB 1, and DQB 1 alleles and haplotypes in 145 PBC patients and 500 healthy subjects. Patients were also stratified according to autoantibody features, and associations between these and HLA alleles were analyzed. Results Significant associations existed between HLA ‐ DRB 1*08:03 (22.1% vs. 9.0%, Pc < 0.0001, OR = 2.86), DQ 2 (41.4% vs. 25.4%, Pc < 0.0001, OR = 2.07) and DQB 1*06:01 (31.0% vs. 17.8%, Pc = 0.014, OR = 2.08) alleles and PBC . DRB 1*08:03‐ DQB 1*06:01 (22.1% vs. 8.2%, P < 0.0001, OR = 3.17) and DRB 1*07:01‐ DQB 1*02:02 haplotypes (28.3% vs. 17.6%, P = 0.005, OR = 1.85) were also associated with PBC susceptibility. In contrast, the DQB 1*03:01 allele (21.4% vs. 39.2%, Pc < 0.0001, OR = 0.42) and DRB 1*12:02‐ DQB 1*03:01 haplotype (6.9% vs. 14.6%, P = 0.015, OR = 0.43) were significantly decreased in PBC patients compared with controls. DRB 1*14:54 and DQ 5(1) protected against antinuclear antibody ( ANA ) ( OR = 0.25) and anti‐gp210 antibody ( OR = 0.39) production, respectively, while HLA ‐B*44:03 predisposed patients to anti‐gp210 antibody ( OR = 5.70) production. Conclusion These results suggest that Chinese patients with PBC have a distinct genetic background in eastern Asia, and we confirmed the role of HLA genes in determining PBC susceptibility and autoantibody features in the Chinese population.