Polymorphisms in genes may affect its expression and alter individual susceptibility to cancer. In this study, we investigate associations between CMTM family gene polymorphisms and hepatocellular carcinoma (HCC) in a southern Chinese population. Ten selected single-nucleotide polymorphisms (SNPs) in CMTM family genes were genotyped in 315 HCC patients and 315 cancer-free controls using Sequenom MassARRAY platform and the associations of the selected SNPs with HCC risk were evaluated. We found individuals with the rs164207 AA genotypes had a significantly increased risk of HCC than those with CC genotypes (adjusted OR = 2.794, 95% CI = 1.143-6.828). Also, individuals with the rs3811178 GG genotypes showed a significant association with increased risk of HCC when compared with the AA genotypes (adjusted OR = 2.578, 95% CI = 1.114-5.969). Furthermore, there was also a significantly increased risk of HCC when combined risk genotypes of these loci, i.e., rs164207 AA, CA and rs3811178 GG, GA. Compared with the low-risk group (0 risk genotypes), the high-risk group (2 risk genotypes) was at significantly increased risk of HCC (adjusted OR = 3.339, 95% CI = 1.119-9.964, p = 0.031). Our results suggest that polymorphisms of rs3811178 in CMTM5 and rs164207 in CMTM6 might contribute to the genetic susceptibility of HCC in the southern Chinese population. Further well-designed studies with larger sample sizes are needed to confirm our findings.
Keywords: CMTM; hepatocellular carcinoma; susceptibility; variant.