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

<正>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 leu...

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Published in:Hepatobiliary & pancreatic diseases international 2006-02, Vol.5 (1), p.129-132
Main Authors: Liu, Hai-Ying, Deng, An-Mei, Zhou, Ye, Yao, Ding-Kang, Xu, De-Xing, Zhong, Ren-Qian
Format: Article
Language:English
Subjects:
Adult
Aged
Aged, 80 and over
Alleles
antigens
biliary
China - epidemiology
cirrhosis
Female
Gene Frequency
genetic
Genotype
HLA Antigens - genetics
human
Humans
leukocyte
Liver Cirrhosis, Biliary - epidemiology
Liver Cirrhosis, Biliary - genetics
Liver Cirrhosis, Biliary - immunology
Male
Middle Aged
Polymerase Chain Reaction
Polymorphism, Genetic
primary
susceptibility
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Summary:<正>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.
ISSN:1499-3872