Ассоциации некоторых однонуклеотидных полиморфизмов генов системы апоптоза с риском развития колоректального рака в российской популяции

Aim. Study the effect of single nucleotide polymorphism genes TP53 (rs1042522, rs1800371), CDKN2A (rs3731217, rs3088440) and MDM2 (rs2279744) on the risk of development of colorectal cancer (CRC) in population of Perm Region. Materials and methods. Case group consisted of 198 patients with histologically verified CRC, control group - 205 individuals with CRC excluded by results of colonoscopy. DNA genotyping, obtained from leukocytes of venous blood of the studied individuals, was carried out by PCR with electrophoretic detection of results. Results. Significant inter-population differences of frequency of occurrence of alleles rs1042522, rs3088440, rs2279744 in Russian population compared with East-Asian and European were detected (p<0.0001). Association of heterozygote (G/T) genotype rs2279744 with a lower risk of development of CRC regardless of sex and age (OR=0.51, 95% CI=0.26 - 0.97) was established. Statistically significant relations between development of CRC and other polymorphisms were not determined. Conclusion. Relations of gene polymorphism of apoptosis system with risk of development of CRC in Russian population was studied for the first time. The data obtained give evidence on the probable reduction of risk of development of CRC with carriage of heterozygote genotype of polymorphism rs2279744.