Relevant Allelic Frequency of Gene Polymorphism and Genetic Predisposition of Human Papillomavirus in Patients with Cervical Cancer

Backround: The present study investigated the correlation between p53 gene codon 72 polymorphism and 6 other genetic single nucleotide polymorphisms (SNPs) in patients with cervical cancer infected by HPV. Methods: 450 patients with cervical cancer (280 Squamous cell carcinoma and 170 Adenocarcinoma) were followed at hospitals in Iran from Dec. 2014 to Apr. 2015. Moreover, 100 age/sex-matched were used as the control group. HPV was detected by LINEAR ARRAY® HPV Genotyping Test. Allelic frequency of 6 gene polymorphisms was detected by the amplification-refractory mutation system (ARMS). Results: From 450 patients, 408 cases (90.66%) were positive for HPV. Four genotypes were observed as single infections (16, 18, 31, and 45). The most common genotypes were HPV-16 (73.52%), HPV-18 (23.28%), HPV-31 and 45 (3.17%), respectively. 306 samples were arginine-arginine homozygous (70.6% and 71.4% of adenocarcinoma and squamous cell carcinoma, respectively), 70 cases were arginine-proline heterozygous (17.6% of adenocarcinoma and 23.8% of squamous cell carcinoma), and 20 cases were as proline-proline homozygous (11.8% and 4.8% of adenocarcinoma and squamous cell carcinoma, respectively). Conclusion: The prevalence of HPV was 84% and that was the estimation of the Global Burden among Iranian patients with cervical cancer (85% - 99%). There was no correlation between mutations in the p53 allele and the size/type of tumors, while we found a correlation between mutations in p53 alleles and age. Therefore, XRCC1 G399A SNP and TP53 G72C SNP were significantly correlated with the cervical cancer. Abbreviations: HPV: Human papillomavirus; SNP: Single nucleotide polymorphism; CDKN1A: cycling-dependent kinase inhibitor 1A; TP53: Tumor protein p53 (also known as p53); P53c72: p53 gene codon 72; ATM: Ataxia-telangiectasia mutated; HDM2: Human double minutes 2 (also known as MDM2); LIG4: DNA ligase IV; XRCC1: X-ray repair cross-complementing 1; XRCC3: X-ray repair cross-complementing 3; TGFB1: Transforming Growth Factor Beta 1; HWE’: Hardy-Weinberg equilibrium; FIGO stage: International Federation of Gynecology and Obstetrics tumor stage;