Association of HLA-DRB1∗0803 and ∗1602 with the susceptibility to primary biliary cirrhosis

Abstract Forty-eight patients with primary biliary cirrhosis (PBC) and 336 healthy individuals were examined for HLA-DR, DQ and DP alleles, by DNA typing based on the polymerase chain reaction (PCR) sequence-specific oligonucleotide probe (SSOP) method. Frequencies of HLA-DRB1 ∗ 1602, DRB1 ∗ 0803, DQB1 ∗ 0502, DQB1 ∗ 0601 and DPB1 ∗ 0202 were found to be increased in the patients. These HLA alleles are in linkage disequilibria consisting of DRB1 ∗ 1602-DQB1 ∗ 0502 and DRB1 ∗ 0803-DQB1 ∗ 0601-DPB1 ∗ 0202 haplotypes. Since the frequencies of DRB1 ∗ 1401 and DRB1 ∗ 1502, that are in linkage disequilibria with DQB1 ∗ 0502 and DQB1 ∗ 0601, respectively, were not increased in the patients, the susceptibility to PBC was suggested to be controlled by the HLA-DRB1 locus. In contrast, the frequency of HLA-DQB1 ∗ 0302 was decreased in the patients, while the frequency of each DRB1 allele in linkage disequilibria with DQB1 ∗ 0302 did not differ significantly between the patient group and control group. This observation suggested that the resistance to PBC may be controlled by the HLA-DQ locus.