Principal contribution of HLA-DQ alleles, DQB1*06:04 and DQB1*03:01, to disease resistance against primary biliary cholangitis in a Japanese population.

ABSTRACT: Identification of the primary allele(s) in HLA class II associated diseases remains challenging because of a tight linkage between alleles of HLA-DR and -DQ loci. In the present study, we determined the genotypes of seven HLA loci (HLA-A, -B, -DRB1, -DQA1, -DQB1, -DPA1 and -DPB1) for 1200 Japanese patients with primary biliary cholangitis and 1196 controls. Observation of recombination derivatives facilitated an evaluation of the effects of individual HLA alleles consisting of disease-prone/disease-resistant HLA haplotypes. Consequently, a primary contribution of DQB1*06:04 (odds ratio: 0.19, p = 1.91 × 10^-22), DQB1*03:01 (odds ratio: 0.50, p = 6.76 × 10^-10), DRB1*08:03 (odds ratio: 1.75, p = 1.01 × 10^-7) and DQB1*04:01 (odds ratio: 1.50, p = 9.20 × 10

SUBMITTER: Yasunami M 

PROVIDER: S-EPMC5593890 | biostudies-literature | 2017 Sep

REPOSITORIES: biostudies-literature