亚甲基四氢叶酸还原酶多态与急性淋巴细胞白血病风险关系的研究

Relationship between genetic polymorphism of methylenetetrahydrofolate reductase and the risk of acute lymphocytic leukemia

目的研究亚甲基四氢叶酸还原酶(MTHFR)基因单核甘酸多态与急性淋巴细胞白血病(ALL)风险的关系。方法分别收集83例ALL患者以及与其匹配的83例正常对照者外周血,提取基因组DNA,以聚合酶链反应(PCR)和限制性片段长度多态性方法(RFLP)检测MTHFR C677T和A1298C基因型,比较不同基因型对ALL发病风险的影响。比值比(OR)和95%可信区间(95%CI)由Logistic回归模型计算。结果MTHFR 677TT基因型频率在ALL患者中高于正常对照者(P=0.008)。与MTHFR 677CC基因型携带者比较,MTHFR 677TT基因型携带者患ALL的风险增加3.229倍。MTHFR 677CT基因型以及MTHFR A1298C多态与ALL风险不相关。结论MTHFR基因677C→T突变是ALL的遗传易感因素。

Objective To investigate the relationship between genetic polymorphism of methylenetetrahydrofolate reductase （MTH-FR） and the risk of acute lymphocytic leukemia （ALL）. Methods Eighty three patients with ALL and a cohort of 83 matched healthy objects were included, and DNA was extracted from their peripheral blood. PCR RFLP was used to determine the genotypes of MTHFR C677T and A1298C. The adjusted odds ratio （OR） and 95% confidence interval （CD） were calculated using unconditional logistic regression model. Results It was found that the frequency of the MTHFR C677T TT genotype among patients was significantly different from that among control objects （P=0.008）. The MTHFR C677T TT genotype had an increased risk of ALL compared with that of 677CC geno-type （OR=3.229, 95%CI： 1.328-7.847, P=0.01）. No significant association between the MTHFR C677T CT genotype or A1298C polymorphism and the risk of leukemia. Conclusion The present findings suggest that 677C→T polymorphism in MTHFR may be a genetic susceptibility factor for acute lymphocytic leukemia.