Abstract
BackgroundHepatitis B is known to cause several forms of liver diseases including chronic hepatitis B (CHB), and hepatocellular carcinoma. Previous genome-wide association study of CHB risk has demonstrated that rs12614 of complement factor B (CFB) was significantly associated with CHB risk. In this study, fine-mapping study of previously reported GWAS single nucleotide polymorphism (SNP; CFB rs12614) was performed to validate genetic effect of rs12614 on CHB susceptibility and identify possible additional causal variants around rs12614 in a Korean population. This association study was conducted in order to identify genetic effects of CFB single nucleotide polymorphisms (SNPs) and to identify additional independent CHB susceptible causal markers within a Korean population.MethodsA total of 10 CFB genetic polymorphisms were selected and genotyped in 1716 study subjects comprised of 955 CHB patients and 761 population controls.ResultsA non-synonymous variant, rs12614 (Arg32Trp) in exon2 of CFB, had significant associations with risk of CHB (odds ratio = 0.43, P = 5.91 × 10− 10). Additional linkage disequilibrium and conditional analysis confirmed that rs12614 had independent genetic effect on CHB susceptibility with previously identified CHB markers. The genetic risk scores (GRSs) were calculated and the CHB patients had higher GRSs than the population controls. Moreover, OR was found to increase significantly with cumulative GRS.Conclusionsrs12614 showed significant genetic effect on CHB risk within the Korean population. As such rs12614 may be used as a possible causal genetic variant for CHB susceptibility.
Highlights
Hepatitis B is known to cause several forms of liver diseases including chronic hepatitis B (CHB), and hepatocellular carcinoma
Several genome-wide association studies (GWASs) on CHB risk have been conducted on Asian populations and have found that CHB risk associated loci are typically located in human leukocyte antigen (HLA) regions, such as HLA-DP and HLA-DQ [4,5,6,7], in Chinese, Japanese, and Korean populations
Association of complement factor B (CFB) genetic polymorphisms with CHB risk In order to investigate the association between CFB genetic polymorphisms and risk of CHB, logistic regression analysis under an additive model was conducted
Summary
Hepatitis B is known to cause several forms of liver diseases including chronic hepatitis B (CHB), and hepatocellular carcinoma. Fine-mapping study of previously reported GWAS single nucleotide polymorphism (SNP; CFB rs12614) was performed to validate genetic effect of rs12614 on CHB susceptibility and identify possible additional causal variants around rs12614 in a Korean population. Several genome-wide association studies (GWASs) on CHB risk have been conducted on Asian populations and have found that CHB risk associated loci are typically located in human leukocyte antigen (HLA) regions, such as HLA-DP and HLA-DQ [4,5,6,7], in Chinese, Japanese, and Korean populations. This study conducted association analysis between CFB SNPs and CHB susceptibility to validate genetic effect of rs12614 and identify possible additional causal variants around rs12614 in a Korean population by fine-mapping of CFB region. The genetic risk scores (GRSs) of all known CHB risk makers were calculated to investigate the cumulative genetic effects of CHB susceptibility in individuals
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