关键词: 多态性, 单核苷酸, 结肠炎, 溃疡性, 结直肠肿瘤

Abstract:

Objective： To investigate the association of rs6983267 polymorphism with risk of sporadic colorectal cancer; to compare the distribution of rs6983267 polymorphism between ulcerative colitis and general population. Methods: 186 patients with sporadic colorectal cancer, 129 patients with ulcerative colitis and 189 healthy donors were recruited in the case-control study. Peripheral venous blood was obtained, and genomic DNA was extracted. All samples were genotyped using matrix-assisted laser desorption ionization time-of-flight mass spectrometry techniques. Allelic and genotypic frequencies were compared and adjusted for age and gender using unconditional Logistic regression. Results:  The allelic frequency of G and the genotypic frequencies of GG and GT were predominant in colorectal cancer group compared with control group, which were statistically significant after adjustment for age and gender (P<0.001). The allelic frequency of G and the genotypic frequencies of GG and GT were predominant in ulcerative colitis group compared with control group, which were statistically significant as well (P=0.041, P=0.006 and P<0.001). Conclusion: rs6983267 polymorphism was associated with risk of sporadic colorectal cancer. The distribution of rs6983267 may be different between ulcerative colitis and general population，and the frequency of risk allele G may be higher in ulcerative colitis patients compared with general population.

Key words: Polymorphism, single nucleotide, Colitis, ulcerative, Colorectal neoplasms