Objective: To determine the association between U2-dependent spliceosome related 8 key genes and hepatocellular cancer (HCC).
Methods: A two-stage case-control study was conducted. Twenty-two candidate tag single nucleotide polymorphisms (tagSNPs) were genotyped by TaqMan Openarray assay in a screened population that living in Central China (378 HCC incident cases and 461 controls). Frequencies of 4 SNPs (rs2074733, rs9608886, rs7288947 and rs5994293) showed significant difference between cases and controls in the screened population and then genotyped by TaqMan real-time polymerase chain reaction in the validation Chinese Han population from Beijing (428 cases and 647 controls).
Results: The rs5994293 in SF3A1 gene showed a significant association with HCC in both screened population and combined population. Subjects with G allele had a lower risk of HCC, compared to those with the TT genotype. OR appeared to be 0.70 (95% CI: 0.58-0.84, false discovery rate adjusted P = 0.000 5) for the combined population. An additive interaction between smoking, drinking alcohol and rs5994293 TT was observed in HBsAg negative subjects of the combined populations.
Conclusion: Our results showed an association existing between SF3A1 rs5994293 and HCC. These findings should be confirmed by further independently large-scale population studies and functional analysis.