Background: Polymorphisms of genes encoding PSCA, PLCE1 and MUC1 have been associated with the riskof different cancers in genome wide association studies (GWAS). Up to date there are limited data on the role ofthese genetic alterations in colorectal cancer (CRC) development. The aim of this study was to evaluate potentialassociations between single nucleotide polymorphisms (SNPs) of genes encoding PSCA, PLCE1 and MUC1 andthe presence of CRC in European populations. Materials and
Methods: Gene polymorphisms were analyzed in574 European subjects (controls: n=382; CRC: n=192). PSCA C>T (rs2294008), PSCA G>A (rs2976392), MUC1A>G (rs4072037) and PLCE1 A>G (rs2274223) SNPs were genotyped by RT-PCR.
Results: The distribution ofgenotypes for all four SNPs was in line with the Hardy-Weinberg equilibrium (rs2294008, P=0.153; rs2976392,P=0.269; rs4072037, P=0.609; rs2274223, P=0.858). The distribution of genotypes and alleles of PSCA C>T,PSCA G>A, MUC1 A>G and PLCE1 A>G SNPs was similar among controls and CRC patient groups (P>0.05).GG genotype of MUC1 SNP was more frequent in CRC patients (24.0%) than in controls (20.2%); however, thisassociation failed to reach significance (OR-1.45, P=0.15). Overall, in the present study SNPs of PSCA (rs2294008,rs2976392), MUC1 (rs4072037) and PLCE1 (rs2274223) genes were not associated with the presence of CRC.
Conclusions: Gene polymorphisms of PSCA, PLCE1 and MUC1 genes are not associated with the presence ofCRC in European subjects.