Genetic variation on the NFKB1 genes associates with the outcomes of HCV infection among Chinese Han population

Abstract Aim To investigate whether nuclear factor-kappa B1 ( NFKB1 ) gene polymorphisms are associated with the outcomes of hepatitis C virus (HCV) infection in a Chinese high-risk population. Methods In this case-control study, 984 HCV-uninfected controls, 221 infected individuals with spontaneous HCV clearance, and 456 with persistent HCV infection were enrolled. Rs28362491 and rs72696119 were genotyped using the ABI TaqMan allelic discrimination assay. The functional annotation of the identified single nucleotide polymorphisms (SNPs) were further evaluated by bioinformatics analysis. Results Significant differences were observed among the three groups ( P P  = 0.014; additive model: adjusted OR = 1.181, 95% CI = 1.021–1.367, P  = 0.025), after adjusting for age, gender, and route of infection. Based on the in silico prediction, the RegulomeDB score for SNP rs28362491 was 3a , indicating that it can potentially regulate the transcription and expression of NFKB1 gene. Conclusion NFKB1 rs28362491-D allele was functionally associated with the increased risk of susceptibility to HCV infection in the Chinese Han population.