Survivin, an apoptotic inhibitor, is overexpressed in various types of cancer. It has been shown that single nucleotide polymorphisms in the survivin gene promoter can modulate survivin expression and consequently influence the risk for some cancers. The aims of the present study were to:
analyze by means of PCR/RFLP, genotype and allele frequencies for the promoter –31 G/C polymorphism in the survivin gene of 59 Wilms tumour (WT) patients and 82 controls,
determine cytoplasmic and nuclear survivin expression in WTs using immunohistochemical methods.
The frequencies of alleles and genotypes were significantly different between patients and controls for the –31 G/C polymorphism. Individuals with CC and CG genotypes had significantly decreased risk of WT compared to GG individuals (OR 0.26, 95% CI 0.07–0.96; OR 0.30, 95% CI 0.15–0.60). A statistically significant difference in cytoplasmic survivin expression between lower and higher grades tumours has been detected as well (p=0.000), but without correlation with the genotypes. Our findings suggest that both survivin genotypes and survivin expression, though not showing direct relationship, represent relevant risk/prognostic markers for WT in Serbian population.