A Genetic Variant in CDKN2A Gene Predicts the Risk of Developing Cervical Cancer

Background: Cervical cancer is among the most commonly occurring cancers in women. Despite extensive efforts in the identification of prognostic and predictive biomarkers, only a very small number of markers have been identified. Several genetic variants in the 9p21 region have been found to be associated with an increased risk of developing cancers. The aim of present study was to explore the value of a genetic variant (rs10811661) in the CDKN2A in cervical cancer for the first time.Methods: Data in computer-based patient dossiers (CPRs) of Mashhad University of Medical Sciences at Ghaem Hospital were applied to identify cervical cancer patients, between 2014 to September 2017. Sixty-four patients and 493 healthy subjects with no known history of infectious HPV, cancer, or family history of cancer were used. DNA was extracted, followed by genotyping using real-time-PCR. The genotype frequency and allele distribution of cases and controls were analyzed using χ2, t-test or multivariate analyses.Results: Our data showed the genotypic frequency for TT, TC and CC of the CDKN2A locus were 61.6%, 27.7%, 11.1% in the patient group and 70.7%, 25.5%, 3.6% in the healthy control group. Moreover, our data showed that the TT genotype of the rs10811661 polymorphism, using a recessive genetic inheritance model, was associated with an increased risk of cervical cancer (e.g., OR: 1.3, 95% CI: 1.1-2.9, p=0.04).Conclusion: We have demonstrated that patients with a TT genotype for the rs10811661 polymorphism of the CDKN2A gene locus were associated with increased risk of cervical cancer. Further investigations are required in a larger population to explore the value of this gene marker in the management of cervical cancer.