The role of cyclin-dependent kinase inhibitor 2A/B (cdkn2A/B) polymorphism (rs3731257) in patients with ovarian cancer

Ovarian cancer (OC) is a leading cause of mortality and a common type of cancer among women. Due to the difficulty of diagnosis in the early stages, the prognosis of ovarian cancer is poor. Genetic factors are one of the non-modifiable risk factors that greatly impact the development of OC. Cyclin-dependent kinase inhibitor 2A ( CDKN2A ) plays an important role in cell cycle regulation as a tumour suppressor gene; the expression of CDKN2A/p16 is strictly controlled. When overexpressed, location-specific CDKN2A/p16 expression is lost, and it appears in the cytoplasm and the nucleus. This abnormality influences cell growth and division, resulting in cellular senescence and apoptosis in epithelial ovarian cancer. This study investigated whether a CDKN2A (rs3731257) polymorphism is associated with ovarian cancer risk. It is aimed at examining the relationship of the disease with CDKN2A (rs3731257) polymorphism, which is thought to affect the risk of ovarian cancer. We had two groups: the patient group with ovarian cancer (n = 47) and the control group (n = 47). Real-time PCR determined the genotyping analysis of both groups, and the SPSS program performed the statistical analysis of the data. According to our results, genotype frequencies were (68.5 %) in the control group of ( GG wild-type homozygous genotype). The genotype (GA) of heterozygotes was about compared to (41.1%). In contrast, the homozygote variant type (AA) genotype was observed in (25%) of patients, which showed a significantly decreased risk for OC of p=0.0041, Odds Ratio (OR): 0.267, 95% Confidence Interval (95% CI): 0.157 - 0.628. For the patient group, the frequency of (27.2%), (59.6% ), and (77.7%) OC (p=0.028, OR: 3.218, 95% CI 1.061 - 10.132). (p = 0.001) with a strong correlation between patient and control genotypes. Moreover, (A) alleles contributed to higher susceptibility (p=0.0012). Using our data, we concluded that there is an association of ovarian cancer with the CDNK2A (rs3731257) polymorphism.