Objective To investigate the relationship between DDX39 rs12461754 single-nucleotide polymorphism (SNP) and family clustering genetic susceptibility to hepatocellular carcinoma(HCC) in Guangxi. Methods Genotypes and alleles at SNP rs12461754 were determined using time-of-flight mass spectrometry in 20 HCC family groups(77 cases) and 10 normal control family groups(35 cases) in Fusui County. Results Risk of HCC for individuals with the A allele of DDX39 rs12461754 was 0.407-fold (95% CI: 0.125-1.326, P=0.136) the risk for individuals with the G allele among normal control groups, while risk of HCC for individuals with the A allele was 0.981-fold(95% CI: 0.298-3.326, P=0.976) the risk for individuals with the G allele among unaffected members of HCC families. The frequencies of A and G alleles were similar between patients and unaffected individuals of HCC families(P>0.05). Frequencies of AA,AG,and GG genotypes did not differ significantly between patients in HCC families and unaffected individuals in HCC families or normal control families. Conclusion Alleles at the DDX39 SNP rs12461754 site may not correlate with family clustering of HCC in Guangxi.

Liver neoplasms, DDX39 gene, Single nucleotide polymorphism, Genetic susceptibility