[Research on the association between U2-dependent spliceosome gene and hepatocellular cancer]

To determine the association between U2-dependent spliceosome related 8 key genes and hepatocellular cancer (HCC).

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).

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.

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.