消化系统肿瘤与MTHFR基因多态性相关研究

Correlation research between digestive system tumors and MTHFR gene polymorphism

目的研究消化系统恶性肿瘤患者群体中的亚甲基四氢叶酸还原酶(MTHFR)编码基因677位点多态性发生频率,并考察性别、年龄和体重指数对消化系统恶性肿瘤患者MTHFR基因遗传多态性发生频率的影响。方法选取消化系统恶性肿瘤患者42例,取外周血,采用基因芯片的方法检测MTHFR基因多态性,应用单样本Kolmogorov-Smirnov法进行拟合优度检验,运用χ2检验研究性别对基因型发生频率的影响,运用One-Way ANOVA分别研究年龄和BMI对基因型发生频率的影响。结果 MTHFR C677T的3种不同基因型(野生型CC、突变杂合型CT、突变纯合型TT)在本次研究对象中的优势基因型为CT型(P<0.001),而不同性别、年龄和体重指数对基因型的发生频率差异无统计学意义。结论初步推断,性别、年龄和体重指数可能不是消化系统肿瘤MTHFR基因遗传多态性发生频率的主要影响因素。

Objective To investigate the frequency of methylenetetrahydrofolate reductase（ MTHFR） gene polymorphism and the effect of gender,age and body mass index on the frequency of MTHFR gene polymorphism in patients with malignant tumor of digestive system. Methods Forty-two patients with malignant tumor of the digestive system were enrolled in the study. MTHFR gene polymorphism was detected by DNA microarray. The single-sample Kolmogorov-Smirnov method was used for goodness of fit test to determine the dominant genotype of MTHFR polymorphism. Influence of gender,age and body mass index（ BMI） on the frequency of genetic polymorphism of MTHFR gene were analyzed by using Chi-square test and One-Way ANOVA. Results CT genotype was predominant among the three different genotypes of MTHFR C677 T（ wild-type CC,mutant heterozygous CT,mutant homozygous TT）（ P〈0. 001）. It showed no statistically significant differences in the incidence of gender,age and BMI. Conclusion It can be concluded that gender,age and BMI may not be the main influencing factors of MTHFR genetic polymorphism in patients with malignant tumor of digestive system.