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Association of VARS 2‐ SFTA 2 polymorphisms with the risk of chronic hepatitis B in a Korean population
Author(s) -
Cheong Hyun Sub,
Lee JeongHoon,
Yu Su Jong,
Yoon JungHwan,
Lee HyoSuk,
Cheong Jae Youn,
Cho Sung Won,
Park Neung Hwa,
Park Byung Lae,
Namgoong Suhg,
Kim Lyoung Hyo,
Shin Hyoung Doo,
Kim YoonJun
Publication year - 2015
Publication title -
liver international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.873
H-Index - 110
eISSN - 1478-3231
pISSN - 1478-3223
DOI - 10.1111/liv.12740
Subject(s) - linkage disequilibrium , genome wide association study , single nucleotide polymorphism , genetic association , odds ratio , genotyping , genetics , snp , hepatitis b virus , allele , biology , population , genotype , medicine , gene , virus , environmental health
Background & Aims Hepatitis B virus ( HBV ) infection is the most serious risk factor for chronic hepatitis B ( CHB ), cirrhosis, and hepatocellular carcinoma. Recently, several genome‐wide association studies ( GWAS s) identified important variants associated with the risk of CHB in Asian populations. Specifically, our previous GWAS identified the VARS 2‐ SFTA 2 gene region as one of the genetic risk loci for CHB . Methods To further characterize this association and to isolate possible causal variants within it, we performed an additional association study by genotyping more SNP s in the vicinity of the VARS 2 and SFTA 2 genes. In all, 14 SNP s of VARS 2‐ SFTA 2 were analysed among a total of 3902 subjects (1046 cases and 2856 controls). Results Logistic regression analysis revealed that six SNP s, including the previously reported rs2532932 , were significantly associated with the risk of CHB ( P = 1.7 × 10 −10 ~0.002). Further linkage disequilibrium and conditional analysis identified two variants ( rs9394021 and rs2517459 ) as new markers of genetic risk factors for CHB rather than the reported SNP from our previous study ( rs2532932 ). To evaluate the cumulative risk for CHB based on all known genetic factors, genetic risk score ( GRS ) were calculated. As anticipated, the distribution of the number of risk alleles in cases vs. controls clearly differed according to the GRS . Similarly, the odds ratios ( OR s) were increased ( OR = 0.32–3.97). Conclusion Our findings show that common variants in the VARS 2‐ SFTA 2 gene region are significantly associated with CHB in a Korean population, which may be useful in further understanding genetic susceptibility to CHB .