Human leucocyte antigen alleles and haplotypes and their associations with antinuclear antibodies features in Chinese patients with primary biliary cirrhosis. (28th June 2013)

• Record Type: Journal Article
• Authors: Zhao, Dan‐Tong; Liao, Hui‐Yu; Zhang, Xin; Liu, Yan‐Min; Zhao, Yan; Zhang, Hai‐Ping; Sun, Li‐Mei; Ma, Yin‐Xue; Yan, Hui‐Ping
• Is Part Of: Liver international. Volume 34:Number 2(2014:Mar.)
• Page Start: 220
• Page End: 226
• Publication Date: 2013-06-28
• Subjects: Liver -- Periodicals; Liver -- Diseases -- Periodicals; 616.362
• DOI: 10.1111/liv.12236
• Languages: English
• ISSNs: 1478-3223

Abstract

<abstract abstract-type="main" id="liv12236-abs-0001"> <title>Abstract</title> <sec id="liv12236-sec-0001" sec-type="section"> <title>Background & Aims</title> <p>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 <italic>DRB1*08</italic> allele and PBC has been reported in many populations, but not in Chinese patients.</p> </sec> <sec id="liv12236-sec-0002" sec-type="section"> <title>Methods</title> <p>We investigated HLA‐A, B, DRB1, and DQB1 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.</p> </sec> <sec id="liv12236-sec-0003" sec-type="section"> <title>Results</title> <p>Significant associations existed between <italic>HLA‐DRB1*08:03</italic> (22.1% vs. 9.0%, <italic>Pc </italic>< 0.0001, OR = 2.86), DQ2 (41.4% vs. 25.4%, <italic>Pc </italic>< 0.0001, OR = 2.07) and <italic>DQB1*06:01</italic> (31.0% vs. 17.8%, <italic>Pc </italic>= 0.014, OR = 2.08) alleles and PBC. <italic>DRB1*08:03‐DQB1*06:01</italic> (22.1% vs. 8.2%, <italic>P </italic>< 0.0001, OR = 3.17) and <italic>DRB1*07:01‐DQB1*02:02</italic> haplotypes (28.3% vs. 17.6%, <italic>P </italic>= 0.005, OR = 1.85) were also associated with PBC susceptibility. In contrast, the <italic>DQB1*03:01</italic> allele (21.4% vs. 39.2%, <italic>Pc </italic>< 0.0001, OR = 0.42) and <italic>DRB1*12:02‐DQB1*03:01</italic> haplotype (6.9% vs. 14.6%, <italic>P </italic>= 0.015, OR = 0.43) were significantly decreased in PBC patients compared with controls. <italic>DRB1*14:54</italic> and DQ5(1) protected against antinuclear antibody (ANA) (OR = 0.25) and anti‐gp210 antibody (OR = 0.39) production, respectively, while <italic>HLA‐B*44:03</italic> predisposed patients to anti‐gp210 antibody (OR = 5.70) production.</p> </sec> <sec id="liv12236-sec-0004" sec-type="section"> <title>Conclusion</title> <p>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.</p> </sec> </abstract>