Validation of PCR-RFLP techniques for the evaluation of codon 72 of p53 and CYP1A1 gene's polymorphisms in relation with ovarian cancer in a Romanian population.

Epidemiological studies suggest that the onset and progression of ovarian cancer are associated with the presence of estrogens. CYP1A1 gene has two polymorphisms, which may affect the estrogens’ metabolites and contribute to increased susceptibility to neoplastic transformation of ovarian cells. P53 is a tumor suppressor gene, which acts to preserve stability of human genome. Codon 72 polymorphism of p53 gene was correlated with susceptibility for ovarian cancer. The aim of our study was to validate the use of PCR-RFLP techniques for the evaluation of p53 codon 72 and CYP1A1 gene polymorphisms in relation with ovarian cancer in a Romanian population and to evaluate gene–environment interaction in this context. The case-control study included 42 subjects. The assessment of risk and protective factors was performed using a questionnaire. Polymorphisms of CYP1A1 and p53 genes were assessed using the validated PCR-RFLP techniques. The statistical analysis was performed using Epi Info 3.5.1 software. Frequency of Arg/Arg genotype of p53 gene was higher among cases (43%) compared with controls (33.3%), but the difference was not statistically significant (p=0.75). The presence of Ile/Val polymorphism of CYP1A1 gene was identified in 9.5% of the cases and the MspI polymorphism of CYP1A1 gene was not identified in our subjects. Validation of techniques consisted in the optimization of RFLP methods for p53 and CYP1A1 genes polymorphism analyzing that allowed highlighting the existence of codon 72 polymorphism of p53 gene and Ile/Val polymorphism of CYP1A1 gene in the population from this region.