Low Variability and Stable Frequency of Common Haplotypes of the TP53 Gene Region in Colorectal Cancer Patients in a Slovak Population

Abstract

Aim: To test the association between common TP53 haplotypes and colorectal cancer (CRC) development.

Patients and methods: A total of 277 CRC patients and 167 healthy volunteers were included in the study. Common TP53 haplotypes were estimated from eight single-nucleotide polymorphisms (SNPs) (rs1614984, rs77697176, rs12947788, rs1800372, rs2909430, rs1042522, rs17878362 and rs11652704). Stepwise haplotype trend regression showed the haplotype-regressor cccgaRDa as a possible predictive marker.

Results: The rare haplotype cccgaRDa was identified in 10 CRC cases and 3 controls. Although it is approximately twice as common in CRC (odds ratio (OR)=2.068; 95% confidence interval (CI)=0.471-9.069), the cccgaRDa haplotype frequency is low in the studied groups. Results of our study suggest that the common TP53 variability is relatively low (only 3 haplotypes occurred above 10%).

Conclusion: The haplotype background of TP53 gene is relative stable and despite low haplotype-regressor cccgaRDa frequency it shows to be a possible predictive parameter for CRC development.

Keywords: CRC; TP53 gene; association; haplotype; tagSNP.