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目的:利用TaqMan-MGB荧光探针法分析MTDH/AEG-1基因5’-UTR多态性与中国南方地区散发性结直肠癌(colorectal cancer,CRC)易感性的关系。方法:采用病例对照法,收集华南地区693例散发性结直肠癌患者及660例健康人血液DNA,利用TaqMan-MGB探针法检测MTDH/AEG-1基因5’-UTR区多态性。结果:MTDH/AEG-1基因5’-UTR区多态性位点-1 913C/G、-797G/A等位基因分布在结直肠癌患者人群与健康对照组中无显著差异。但-1 913C/G突变纯合子GG可显著增加饮酒者(OR=1.71,95%CI=1.13-2.57)及女性(OR=1.48,95%CI=1.01-2.17)罹患结直肠癌的风险,-1 913GG与饮酒及女性性别在增加结直肠癌发病风险上存在交互作用(P<0.01);-797G/A突变基因型(GA+AA)可增加饮酒者(OR=1.55,95%CI=1.06-2.27)及肿瘤家族史人群(OR=3.48,95%CI=1.60-7.57)的结直肠癌发病风险,-797G/A突变与饮酒及肿瘤家族史在增加结直肠癌罹患风险上具有交互作用(P<0.01)。2个多态性位点与年龄、吸烟、肥胖均无交互作用。结论:MTDH/AEG-1基因5’-UTR区单核苷酸多态性与结直肠癌发病无明显相关性,但其与饮酒、性别及肿瘤家族史因素在增加结直肠癌罹患率上具有交互作用。
OBJECTIVE: To analyze the relationship between the 5’-UTR of MTDH / AEG-1 gene and susceptibility to sporadic colorectal cancer (CRC) in southern China by TaqMan-MGB fluorescent probe. Methods: The blood DNA of 693 patients with sporadic colorectal cancer in South China and 660 healthy controls were collected by case-control method. The 5’-UTR polymorphism of MTDH / AEG-1 gene was detected by TaqMan-MGB probe. Results: There was no significant difference in the distribution of alleles-913C / G and -797G / A in the 5’-UTR of MTDH / AEG-1 gene between the patients with colorectal cancer and healthy controls. However, -1 913C / G mutant homozygote GG significantly increased the risk of colorectal cancer in drinkers (OR = 1.71, 95% CI = 1.13-2.57) and women (OR = 1.48, 95% CI = 1.01-2.17) -1 913GG had an interaction with drinking and female gender in increasing the risk of colorectal cancer (P <0.01); - 797G / A mutant genotype (GA + AA) could increase alcohol consumption (OR = 1.55,95% CI = 1.06-2.27) and family history of cancer (OR = 3.48,95% CI = 1.60-7.57). The -797G / A mutation interacted with alcohol consumption and family history of cancer in increasing the risk of colorectal cancer (P <0.01). Two polymorphic loci had no interaction with age, smoking, obesity. CONCLUSION: There is no significant correlation between single nucleotide polymorphism of 5’-UTR of MTDH / AEG-1 gene and the incidence of colorectal cancer, but there is a significant correlation between the single nucleotide polymorphism of MTDH / AEG-1 gene and the incidence of colorectal cancer Interaction.