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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

Published on: December 15, 2023

A genome-wide association study identified new variants associated with the risk of chronic hepatitis B

Yoon Jun Kim, Hwi Young Kim, Jeong-Hoon Lee

    Human Molecular Genetics
    |June 14, 2013
    PubMed

    Insights

    This study identified two novel genetic loci, EHMT2 and TCF19, associated with chronic hepatitis B (CHB) risk in the Korean population. These findings enhance understanding of host genetic susceptibility to HBV infection.

    Area of Science:

    • Genetics
    • Hepatology
    • Immunology

    Background:

    • Hepatitis B virus (HBV) infection is a primary cause of chronic hepatitis B (CHB), liver cirrhosis (LC), and hepatocellular carcinoma (HCC).
    • Genome-wide association studies (GWAS) have previously identified human leukocyte antigen (HLA) loci associated with CHB risk, particularly in Asian populations.

    Purpose of the Study:

    • To identify novel host genetic factors contributing to CHB susceptibility.
    • To confirm and further investigate genetic associations with CHB using a higher-density GWAS chip in a Korean cohort.

    Main Methods:

    • Conducted a GWAS on 1400 Korean individuals (400 CHB cases, 1000 controls) using a high-density chip with over 1.14 million single nucleotide polymorphisms (SNPs).
    • Performed replication analysis on an independent Korean cohort of 2909 individuals (971 cases, 1938 controls).
    • Utilized logistic regression analysis, adjusting for age and sex, to identify risk-associated loci.

    Main Results:

    • Identified two new CHB risk-associated loci in the HLA region on chromosome 6: rs652888 (EHMT2) with P = 7.07 × 10(-13) and rs1419881 (TCF19) with P = 1.26 × 10(-18).
    • Conditional analysis confirmed the independent genetic effects of these newly identified loci, distinct from previously known HLA CHB loci.

    Conclusions:

    • The GWAS and validation study successfully identified novel genetic variants associated with CHB risk.
    • These findings contribute to a deeper understanding of the genetic basis of susceptibility to chronic hepatitis B infection.
    Abstract

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