Background: Polymorphisms in the genes controlling acquired somatic mutations may explain some of the observed differences in susceptibility to chronic obstructive pulmonary disease (COPD) caused by cigarettes. Thus, we investigated the relationship between the p53 codon 72 polymorphism and susceptibility to COPD. Methods and patients: Seventy patients with COPD and 64 healthy-smoker subjects were included. Polymorphisms of the p53 block were delineated using an allele-specific polymerase chain reaction (PCR) approach. The allele-specific PCR technique was verified by direct dideoxy sequencing of PCR products. Results: The genotype was analyzed using the polymerase chain reaction-restriction fragment length polymorphism technique with genomic DNA isolated from peripheral blood lymphocytes. The distribution frequencies of genotypes of the p53 codon 72 polymorphism were significantly different between the COPD and the control groups. Higher odds ratios (ORs) for COPD were seen for individuals with p53 Pro/Pro and Arg/Pro genotypes against Arg/Arg genotype [OR=2.50, 95% Cl 1.47-4.49, p=0.008]. Conclusion: The p53 codon 72 polymorphism was significantly associated with the presence of smoking-related COPD.
