单核苷酸多态性位点rs6983267与溃疡性结肠炎及大肠癌的相关性

目的：探讨rs6983267多态性与散发性大肠癌发病风险的相关性，初步比较rs6983267多态性在溃疡性结肠炎患者和普通人群中的分布差异。方法： 该病例对照研究共纳入186例散发性大肠癌患者、129例溃疡性结肠炎患者和189例对照者，采集外周静脉血并提取基因组DNA，采用基质辅助激光解吸电离-飞行时间质谱平台进行基因型分型，采用非条件Logistic回归方法校正年龄、性别，并比较各组间的等位基因和基因型频率分布差异。结果：大肠癌组的G等位基因频率及GG、GT基因型频率均高于对照组，差异具有统计学意义（P<0.001）。溃疡性结肠炎组的G等位基因频率及GG、GT基因型频率均高于对照组，差异具有统计学意义（P=0.041，P=0.006和P＜0.001）。结论： rs6983267多态性与散发性大肠癌的发病风险相关，rs6983267多态性在溃疡性结肠炎患者和普通人群中的分布可能存在差异，且溃疡性结肠炎患者中的G风险等位基因频率可能高于普通人群。

Association of single nucleotide polymorphism rs6983267 with ulcerative colitis and colorectal cancer

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.