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A non-synonymous variant rs12614 of complement factor B associated with risk of chronic hepatitis B in a Korean

Jung Yeon Seo1,2, Joong-Gon Shin1,3, Byeong Ju Youn2

  • 1Current address: Department of Core Technology, R&D Center, LG Household & Healthcare (LG H&H), Seoul, 07795, South Korea.

BMC Medical Genetics
|December 18, 2020
PubMed

Insights

The complement factor B (CFB) rs12614 variant significantly impacts chronic hepatitis B (CHB) risk in Koreans. This finding validates rs12614 as a potential causal genetic marker for CHB susceptibility.

Area of Science:

  • Genetics
  • Hepatology
  • Immunology

Background:

  • Hepatitis B virus (HBV) infection causes chronic hepatitis B (CHB) and hepatocellular carcinoma.
  • Previous genome-wide association studies (GWAS) identified the complement factor B (CFB) rs12614 single nucleotide polymorphism (SNP) as associated with CHB risk.

Purpose of the Study:

  • To fine-map the CFB rs12614 SNP to validate its genetic effect on CHB susceptibility in a Korean population.
  • To identify potential additional causal variants around rs12614 associated with CHB.

Main Methods:

  • Genotyping of 10 CFB genetic polymorphisms in 1716 individuals (955 CHB patients, 761 controls).
  • Fine-mapping, linkage disequilibrium, and conditional analyses were performed.

Main Results:

  • The non-synonymous variant rs12614 (Arg32Trp) showed a significant association with CHB risk (OR=0.43, P=5.91×10⁻¹⁰).
  • rs12614 demonstrated an independent genetic effect on CHB susceptibility.
  • Higher genetic risk scores (GRSs) were observed in CHB patients compared to controls, with increased odds ratios correlating with cumulative GRS.

Conclusions:

  • The rs12614 variant has a significant genetic effect on CHB risk in the Korean population.
  • rs12614 is a potential causal genetic variant for CHB susceptibility.
Abstract

Keywords:
CFBGenetic risk scoresHepatitis BKorean populationLiver disease

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