PCR-RFLP genotyping analysis of TP53 Arg72Pro polymorphism and susceptibility to esophageal cancer in Pakistani population

• Published in: Gene reports 2021-12, Vol.25, p.101406, Article 101406
• Main Authors: Ali, Hamida, Naeem, Muhammad, Sajjad, Naheed, Naz, Gul, Samad, Abdul, Naseeb, Hafiz Khush, Tariq, Nabeela
• Format: Article
• Language: English
• Subjects: Arginine; Esophageal cancer; Pakistan; PCR-RFLP; Proline; TP53 polymorphism
• ISSN: 2452-0144; 2452-0144
• DOI: 10.1016/j.genrep.2021.101406

Tumor suppressor gene TP53 is necessary for prevention of inappropriate cell proliferation and maintenance of genome integrity. TP53 Arg72Pro is the most studied single nucleotide polymorphism (SNP) associated with different cancers including esophageal cancer (EC). The study was established to investigate relationship between Arg72Pro polymorphism and EC susceptibility. DNA from a total of 200 individuals (100 EC patients and 100 controls) were genotyped for TP53 codon 72 (Arg72Pro) polymorphism by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Logistic regression was used to estimate odds ratios and 95% confidence interval. Significant differences in genotypes of Arg72Pro polymorphism between cases and controls were observed (P 50 with Pro/Pro were 4.6 fold (95% CI: 1.8–11.8) at increased risk of esophageal cancer. Our study suggests that Pro72 variant of TP53 polymorphism is highly correlated with increased EC. Further, the interaction between this polymorphism and tobacco consumption significantly affected EC development in Pakistani population. •Tumor suppressor gene TP53 is necessary for prevention of inappropriate cell proliferation and maintenance of genome integrity•TP53 Arg72Pro is the most studied single nucleotide polymorphism (SNP) associated with different cancers including esophageal cancer (EC).•Pro72 variant of TP53 polymorphism and tobacco consumption significantly affected EC development in Pakistani population.