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.
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