Haplotype-dependent HLA-DRB1-DQB1 susceptibility to occult HBV infection in Xi'an Han population.

Background: Occult hepatitis B virus (HBV) infection (OBI) is primarily characterized by the persistence of HBV-DNA in the liver tissues and/or in the serum without detectable HBsAg. Human leukocyte antigen (HLA) polymorphisms have been found to be strongly associated with HBV in different ethnic backgrounds. The association of HLA-DRB1-DQB1 haplotypes with OBI has not been previously reported in China. The aim of this study was to identify the potential association of HLA-DRB1-DQB1 haplotypes that may be involved in OBI genetic susceptibility.

Methods: A case-control study was conducted between 107 OBI subjects and 280 healthy controls from the blood donors in the Shaanxi Province Blood Center. The HLA-DRB1, DQB1 loci were genotyped using polymerase chain reaction-sequence based typing (PCR-SBT). Based on the genotype data of the two loci, haplotype estimation was performed.

Results: HLA-DRB1*07:01-DQB1*02:02 (pc = 0.344 × 10 , OR = 3.489, 95%CI = 2.000-6.088) and HLA-DRB1*09:01-DQB1*03:03 (pc = 0.02, OR = 2.370, 95%CI = 1.450-3.873) serve as the possible risk and susceptibility haplotypes for OBI in Xi'an Han after Bonferroni correction.

Conclusions: This study demonstrated that HLA II haplotypes were significantly associated with OBI in the Xi'an Han population. To the best of our knowledge, this is the first study to associate HLA-DRB1-DQB1 haplotypes with OBI, which can provide valuable insights into the relationship between the various genetic factors and immune responses in the Xi'an population. The findings can also form the basis for future studies about the role of HLA in OBI.