Analysis of HLA alleles polymorphism in Chinese patients with primary biliary cirrhosis  

作　　者：Hai-Ying Liu. An-Mei Deng, Ye Zhou, Ding-Kang Yao, De-Xing Xu and Ren-Qian Zhong Clinical Laboratory, General Hospital of Guangzhou Military Command of PLA, Guangzhou 510010, China Laboratory Diagnostics, Changzheng Hospital, Second Military Medical University, and Clinical Immunology Center of PLA, Shanghai 200003, China and Department of Gastroenterology, Changzheng Hospital, Second Military Medical University, Shanghai 200003, China 

出　　处：《Hepatobiliary & Pancreatic Diseases International》2006年第1期129-132,共4页国际肝胆胰疾病杂志（英文版）

基　　金：This study was supported by a grant from the National Natural Science Foundation of China (No. 30300157).

摘　　要：BACKGROUND: A familial dustering of patients with primary biliary cirrhosis (PBC) and the presence of immunological abnormalities in family members suggest a genetic component involved in the pathogenesis of PBC. The aims of this study are to investigate the frequencies of human leukocyte antigen HLA-A, -B, and -DRB1 alleles in Chinese patients with PBC by polymerase chain reaction (PCR)-based techniques, and to assess the correlation of the above-mentioned HLA with some clinical and laboratory features. METHODS: Genotyping of HLA alleles were performed in 65 well-characterized PBC patients and 431 healthy controls with sequence-specifc primers PCR amplification. RESULTS: HLA-DRB1~*07 allele detected in 19 of the 65 (29.2%) PBC patients was subtyped as DRB1~*0701, as well as in 13.9% of controls (P_C<0.05, OR=2.55, 95% CI: 1.4-4.6). An increased frequency of DRB1~*03 (18.4% vs. 7.2% in healthy controls) and a decreased frequency of DRB1~*12 (16.9% vs. 28.8%) in PBC patients were statistically significant. There was no association with HLADRB1~*08 reported. The frequencies for HLA-A, B and the other DRB1 alleles were similar between patients and healthy controls. CONCLUSIONS: The susceptibility to PBC in Chinese individuals is associated with DRB1~*0701 allele. This association differs from that in North Americans, South Americans, North Europeans and even Japanese, but it is not restricted to any particular subgroup of patients.BACKGROUND: A familial dustering of patients with primary biliary cirrhosis (PBC) and the presence of immunological abnormalities in family members suggest a genetic component involved in the pathogenesis of PBC. The aims of this study are to investigate the frequencies of human leukocyte antigen HLA-A, -B, and -DRB1 alleles in Chinese patients with PBC by polymerase chain reaction (PCR)-based techniques, and to assess the correlation of the above-mentioned HLA with some clinical and laboratory features. METHODS: Genotyping of HLA alleles were performed in 65 well-characterized PBC patients and 431 healthy controls with sequence-specifc primers PCR amplification. RESULTS: HLA-DRB1~*07 allele detected in 19 of the 65 (29.2%) PBC patients was subtyped as DRB1~*0701, as well as in 13.9% of controls (P_C<0.05, OR=2.55, 95% CI: 1.4-4.6). An increased frequency of DRB1~*03 (18.4% vs. 7.2% in healthy controls) and a decreased frequency of DRB1~*12 (16.9% vs. 28.8%) in PBC patients were statistically significant. There was no association with HLADRB1~*08 reported. The frequencies for HLA-A, B and the other DRB1 alleles were similar between patients and healthy controls. CONCLUSIONS: The susceptibility to PBC in Chinese individuals is associated with DRB1~*0701 allele. This association differs from that in North Americans, South Americans, North Europeans and even Japanese, but it is not restricted to any particular subgroup of patients.

关 键 词：primary biliary cirrhosis human leukocyte antigens genetic susceptibility 

分 类 号：R575.2[医药卫生—消化系统]