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目的:研究在中国徐州地区汉族人群中,CLIP3基因远端启动子区的一个3-bp插入/缺失多态性和结直肠癌(CRC)易感性的相关性。方法:应用基因测序方法检测450例CRC患者和799例健康对照者插入/缺失基因型频率,并统计分析探讨其与CRC的关联性。结果:选择的患者和健康对照组人群在性别、年龄、吸烟和饮酒情况方面的频率分布无显著性差异。基因分型结果显示:患者中插入/插入型(Ins/Ins),插入/缺失型(Ins/Del)和缺失/缺失型(Del/Del)基因型频率分别为0.358,0.558和0.084,健康对照组分别为0.420,0.532和0.048。基因型为Ins/Del和Del/Del的个体CRC易感性明显增高(OR=1.20,95%CI:1.01-1.56,P=0.09)(OR=1.80,95%CI:1.20-2.35,P=0.001)。结论:CLIP3基因启动子区3-bp插入/缺失多态性与结直肠癌发生存在关联,这一结果对结直肠癌早期诊断具有重要意义。
OBJECTIVE: To investigate the association of a 3-bp insertion / deletion polymorphism in the distal promoter region of CLIP3 gene with susceptibility to colorectal cancer (CRC) in Han Chinese population in Xuzhou, China. Methods: The frequency of insertion / deletion genotypes in 450 CRC patients and 799 healthy controls was detected by gene sequencing method, and the association with CRC was analyzed statistically. RESULTS: There was no significant difference in the frequency distribution of sex, age, smoking and alcohol consumption between selected patients and healthy controls. Genotyping results showed that the frequencies of Ins / Ins, Del / Del genotypes were 0.358, 0.558 and 0.084, respectively. The healthy controls Groups were 0.420, 0.532 and 0.048, respectively. The susceptibility to CRC in subjects with genotypes Ins / Del and Del / Del was significantly higher (OR = 1.20, 95% CI: 1.01-1.56, P = 0.09) (OR = 1.80, 95% CI: 1.20-2.35, P = 0.001 ). CONCLUSION: The 3-bp insertion / deletion polymorphism of CLIP3 gene promoter region is associated with the occurrence of colorectal cancer. This result is of great significance for the early diagnosis of colorectal cancer.