Background: A familial clustering 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-specific 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 (PC<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 HLA-DRB1*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.