Polymorphisms in the 3'-UTR of SCD5 gene are associated with hepatocellular carcinoma in Korean population.

The purpose of the study was to assess the relationship between polymorphisms of the SCD5 and MMP1 gene and hepatocellular carcinoma (HCC). The gene polymorphisms with a minor allele frequency (MAF) > 0.05 were selected eight SNPs (rs6840, rs1065403, rs3821974, and rs3733230 in 3'-UTR; rs4693472, rs3733227, rs1848067, and rs6535374 in intron region) of SCD5 gene and two SNPs (rs1799750 and rs1144393 in promoter region) of MMP1 gene. The genotype of SCD5 and MMP1 gene SNPs were determined by direct sequencing and pyrosequencing, respectively. One hundred sixty-two patients with HCC and two hundred twenty-five control subjects were recruited in Korean male population. In terms of genotype frequencies, SCD5 genotype TC, GA, AG, and CG of rs6840, rs1065403, rs3821974, and rs3733230, respectively were higher in control group than HCC. In addition, these genotype decreased the risk (rs6840; OR 0.55, 95% CI 0.31-0.99; rs1065403; OR 0.46, 95% CI 0.26-0.83; rs3821974; OR 0.56, 95% CI 0.31-0.99; rs3733230; OR 0.62, 95% CI 0.34-1.12) of HCC, which may work as a prevention of HCC. At least one minor allele carrier of SCD5 gene polymorphisms were related to decreased risk of HCC for AFP cut-point levels > 200 or > 400 ng/ml, respectively. Our results indicate that polymorphisms in the 3'-UTR of the SCD5 gene may associated with HCC in the Korean male population.