TXNDC5 gene polymorphism contributes to increased risk of hepatocellular carcinoma in the Korean male population.

Thioredoxin domain-containing protein-5 (TXNDC5) has been found to be associated with cancer development and growth. We investigated whether TXNDC5 gene polymorphisms are associated with hepatocellular carcinoma (HCC) in a Korean male population. Seven SNPs were selected based on minor allelic frequency (≥5%). The SNPs consisted of three exonic SNPs (rs8643, rs7764128 and rs1043784) and four intronic SNPs (rs1225944, rs1225943, rs1225945 and rs1225958). We selected and assessed these SNPs in 160 patients with HCC and 178 controls. Genetic data were analyzed using SNPAnalyzer Pro, SNPStats, and Haploview programs. Two SNPs of the TXNDC5 gene were found to be associated with the risk of HCC development. The genotypic frequency of rs1225944 was associated with HCC in the recessive model [CC/CT vs. TT, p=0.43, Fisher's exact test p=0.032; odds ratio (OR)=0.54, 95% confidence interval (CI)=0.11-2.71]. The genotypic frequency of rs1225943 was associated with HCC in the co-dominant 2 (AA vs. CC, p=0.07; Fisher's exact test p=0.001, OR=0.23, 95% CI=0.05-1.10), recessive (AA/AC vs. CC, p=0.044, Fisher's exact test p=0.001, OR=0.25, 95% CI=0.05-1.17), and log-additive models (p=0.08, Fisher's exact test p=0.002, OR=0.68, 95% CI=0.44-1.05). The haplotype CA and TC of rs1229544 and rs1225943, demonstrated a significant association with HCC. Our results suggest that TXNDC5 polymorphisms could be related to the development of HCC in the Korean male population.