连锁不平衡
全基因组关联研究
医学
遗传关联
遗传学
基因型
内科学
乙型肝炎病毒
优势比
单核苷酸多态性
生物
人口
等位基因
基因分型
SNP公司
基因
病毒
环境卫生
作者
Hyun Sub Cheong,Jeong-Hoon Lee,Su Jong Yu,Jung‐Hwan Yoon,Hyo‐Suk Lee,Jae Youn Cheong,Sung Won Cho,Neung Hwa Park,Byung Lae Park,Suhg Namgoong,Lyoung Hyo Kim,Hyoung Doo Shin,Yoon Jun Kim
摘要
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 (GWASs) identified important variants associated with the risk of CHB in Asian populations. Specifically, our previous GWAS identified the VARS2-SFTA2 gene region as one of the genetic risk loci for CHB.To further characterize this association and to isolate possible causal variants within it, we performed an additional association study by genotyping more SNPs in the vicinity of the VARS2 and SFTA2 genes. In all, 14 SNPs of VARS2-SFTA2 were analysed among a total of 3902 subjects (1046 cases and 2856 controls).Logistic regression analysis revealed that six SNPs, 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 (ORs) were increased (OR = 0.32-3.97).Our findings show that common variants in the VARS2-SFTA2 gene region are significantly associated with CHB in a Korean population, which may be useful in further understanding genetic susceptibility to CHB.
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