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目的探讨亚甲基四氢叶酸还原酶(MTHFR)基因多态位点及其联合作用与新疆地区汉族食管癌之间的关系。方法采用病例对照研究,应用聚合酶链式反应-连接酶检测反应(PCR-LDR)技术,对MTHFR基因7个tagSNPs多态位点进行检测。结果MTHFR基因rs9651118和rs1801133位点不同基因型在病例组和对照组之间的分布均有统计学意义(χ2=3.89,P=0.049;χ2=9.99,P=0.007);即携带rs9651118位点C等位基因者发生食管癌的风险降低(OR=0.59,OR95%CI:0.36～0.99),rs1801133位点携带CT和TT基因型者发生食管癌的风险增加,分别是携带CC基因型者发生食管癌危险性的2.21倍(95%CI:1.05～4.69)和3.45倍(95%CI:1.59～7.48)。同时携带rs9651118 TT基因型与rs1801133CT+TT基因型的个体发生食管癌的危险性最大(χ2=6.94,P=0.008;OR=3.55,95%CI:1.38～9.13)。结论在本试验条件下,MTHFR基因SNP多态位点与食管癌的易感性有关。
Objective To investigate the relationship between the polymorphism of methylenetetrahydrofolate reductase (MTHFR) gene and its combined effect with esophageal cancer of the Han nationality in Xinjiang region. Methods A case-control study was conducted. Seven polymorphic sites of MTHFR gene were detected by polymerase chain reaction-ligase assay (PCR-LDR). Results The genotypes of rs9651118 and rs1801133 in MTHFR gene were statistically different between the case group and the control group (χ2 = 3.89, P = 0.049; χ2 = 9.99, P = 0.007) The risk of esophageal cancer was lower in patients with allele (OR = 0.59, OR 95% CI: 0.36-0.99). The risk of esophageal cancer in rs1801133 patients with CT and TT genotypes was increased The risk of cancer was 2.21 times (95% CI: 1.05 ~ 4.69) and 3.45 times (95% CI: 1.59 ~ 7.48). The risk of esophageal cancer was highest among individuals with the rs9651118 TT genotype and the rs1801133CT + TT genotype (χ2 = 6.94, P = 0.008; OR = 3.55, 95% CI: 1.38-9.13). Conclusion Under the experimental conditions, the SNP polymorphisms of MTHFR gene are associated with the susceptibility to esophageal cancer.