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Updated: May 31, 2026

Real-Time Polymerase Chain Reaction-Based Detection and Quantification of Hepatitis B Virus DNA
04:11

Real-Time Polymerase Chain Reaction-Based Detection and Quantification of Hepatitis B Virus DNA

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A genome-wide association study of chronic hepatitis B identified novel risk locus in a Japanese population

Hamdi Mbarek1, Hidenori Ochi, Yuji Urabe

  • 1Laboratory of Molecular Medicine, Human Genome Center, Institute of Medical Science, The University of Tokyo, 4-6-1 Shirokanedai, Minato, Tokyo.

Human Molecular Genetics
|July 14, 2011
PubMed

Insights

Genetic factors in the HLA-DP and HLA-DQ regions significantly influence susceptibility to chronic hepatitis B (CHB) infection. Specific HLA-DQ variants were identified as independent risk or protective factors for developing CHB.

Area of Science:

  • Immunogenetics
  • Hepatology
  • Human Genetics

Background:

  • Hepatitis B virus (HBV) infection poses a global health threat, potentially leading to severe liver conditions like cirrhosis and cancer.
  • Identifying host genetic factors is crucial for understanding chronic hepatitis B (CHB) susceptibility.

Purpose of the Study:

  • To conduct a genome-wide association study (GWAS) to identify host genetic factors associated with CHB susceptibility in Japanese populations.
  • To further investigate the association of HLA-DP and HLA-DQ variants with CHB risk.

Main Methods:

  • Performed a second-stage GWAS using 519,474 single nucleotide polymorphism (SNP) arrays in 458 Japanese CHB cases and 2056 controls.
  • Analyzed significant loci in three independent Japanese cohorts (2209 CHB cases and 4440 controls).
  • Conducted haplotype analyses to identify specific HLA-DQ variants associated with CHB risk.

Main Results:

  • Identified strong associations at 16 loci with P-value < 5 × 10(-5) after adjusting for known HLA-DP variants.
  • Confirmed significant associations for two SNPs (rs2856718 and rs7453920) in the HLA-DQ locus (overall P-values < 4 × 10(-28)).
  • Discovered protective haplotypes (DQA1*0102-DQB1*0604, DQA1*0101-DQB1*0501) and risk haplotypes (DQA1*0102-DQB1*0303, DQA1*0301-DQB1*0601) for CHB.

Conclusions:

  • Variants within the antigen-binding regions of HLA-DP and HLA-DQ significantly contribute to the risk of persistent HBV infection.
  • HLA-DQ variants demonstrate an independent effect on CHB susceptibility, distinct from previously identified HLA-DP associations.

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