Background: Improved survival from colorectal cancer (CRC) may result from screening for inherited genetic risk factors. Reprimo and p53R2 are p53-inducible genes involved in cell cycle surveillance and DNA repair. Single nucleotide polymorphisms (SNPs) of these genes have been discovered, but their effects on the genes' function and association with CRC is not known.
Methods: Ninety healthy controls, 52 diverticular disease controls and 96 CRC cases were genotyped. DNA was extracted from buccal brush biopsies. Genotyping was performed by polymerase chain reaction (PCR) or polymerase chain reaction/restriction fragment length polymorphism (PCR/RFLP) methods. Tests for Hardy-Weinberg equilibrium and allelic- and genotype-disease association were performed online using the Finetti program.
Results: All three populations were in Hardy-Weinberg equilibrium with respect to p53R2 4696C>G SNP, and no CRC associations were demonstrated with this SNP. The healthy and CRC populations were in Hardy-Weinberg equilibrium with respect to the Reprimo 824G>C SNP, but the diverticular disease population was not (P=0.03). No CRC were demonstrated with Reprimo 824G>C.
Conclusion: No association between p53R2 4696C>G and Reprimo 824G>C with CRC was shown by this study. An association between the Reprimo 824G>C heterozygote and diverticular disease may exist on the basis of deviation from Hardy-Weinberg equilibrium.