Background: To investigate the relationship of five TP53 polymorphisms (p.P47S, p.R72P, PIN3 ins16bp,p.R213R and r.13494g>a) with the esophageal cancer (EC) risk in North Indians. Materials and
Methods:Genotyping of p.P47S, p.R72P, PIN3 ins16bp, p.R213R and r.13494g>a polymorphisms of TP53 in 136 sporadicEC patients and 136 controls using polymerase chain reaction and PCR-RFLP.
Results: The frequencies ofgenotype RR, RP and PP of p.R72P polymorphism were 16.91 vs 26.47%, 58.82 vs 49.27% and 24.27 vs 24.27%among patients and controls respectively. We observed significantly increased frequency of RP genotype in casesas compared to controls (OR=1.87, 95% CI, 1.01-3.46, p=0.05). The frequencies of genotype A1A1, A1A2 andA2A2 of PIN3 ins16bp polymorphism were 69.12 vs 70.59%, 27.20 vs 25% and 3.68 vs 4.41% among patientsand controls. There was no significant difference among genotype and allele distribution between patients andcontrols. The frequencies of genotype GG, GA and AA of r.13494g>a polymorphism were 62.50 vs 64.70%, 34.56vs 30.15% and 2.94 vs 5.15% among patients and controls respectively. No significant difference between genotypeand allele frequency was observed in the patients and controls. For p.P47S and p.R213R polymorphisms, allthe cases and controls had homozygous wild type genotype. The RP-A1A1-GG genotype combination showssignificant risk for EC (OR=2.01, 95%CI: 1.01-3.99, p=0.05).
Conclusions: Among the five TP53 polymorphismsinvestigated, only p.R72P polymorphism may contributes to EC susceptibility.