MTHFR基因多态性与急性白血病易感性的研究  

Association of single nucleotide polymorphism of methylenetetrahydrofolate reductase gene with susceptibility toacute leukemia

作　　者：郑苗苗[1] 岳丽杰[1] 张洪洪[1] 杨春兰[1] 谢偲[1] 

机构地区：[1]遵义医学院深圳市儿童医院儿科研究所,广东省深圳市518026

出　　处：《中华医学遗传学杂志》2013年第4期451-455,共5页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金（30471830）;深圳市科技计划项目（200802065）

摘　　要：目的研究汉族儿童亚甲基四氢叶酸还原酶（ methylenetetrahydrofolate reductase,MTHFR） 基因多态性与急性淋巴细胞白血病（acute lymphoblastic leukemia, ALL）以及急性髓细胞白血病（acute myeloid leukemia, AML）发病风险的相关性。方法对87例ALL患儿、22例AML患儿和120名对照儿童用逆转录-聚合酶链反应一变性梯度凝胶电泳结合DNA测序技术进行MTHFR677C／T和1298A／c基因的多态性筛查。结果MTHFR677CT基因型的个体AML易感性降低（OR=0．23，95％CI：0．07-0．79）。未发现MTHFR1298A／c各基因型与ALL和AML发病风险间存在显著关联。MTHFR677TT／1298AA和677CC／1298AC基因型ALL发病风险增高（OR=3．78，95％CI：1．38-10．40；OR=3．17，95％CI：1．18-8．53），677CT／1298AA基因型者AML风险降低（OR=0．23，95％CI：0．06-0．97）。结论MTHFR基因677位碱基变异可能是儿童AML遗传易感因素。Objective To assess whether polymorphisms of methylenetetrahydrofolate reductase （MTHFR） gene is associated with susceptibility to acute lymphoblastic leukemia （ALL） or acute myeloid leukemia （AML） in Chinese Han children. Methods The study has included 87 patients with ALL, 22 patients with AML and 120 healthy controls. All subjects were analyzed with reverse transcriptase- polymerase chain reaction-denaturing gradient gel electrophoresis and sequencing. Results A 677CT genotype of the MTHFR gene was associated with decreased risk of ALL （OR=0. 23, 95%CI： 0. 07- 0.79）. However, MTHFR A1298C genotypes were not associated with the risk of either disease. 677TT/ 1298AA and 677CC/1298AC genotypes were associated with increased risk of ALL （OR= 3.78, 95%CI： 1.38-10.40; OR= 3. 17, 95%60CI： 1. 18-8. 53, respectively）, whereas the genotype 677CT/1298AA was associated with susceptibility to AML （OR=0.23, 95%CI：0. 06-0. 97）. Conclusion Our data suggested that C677T polymorphism of MTHFR gene may increase the risk of childhood AML.

关 键 词：亚甲基四氢叶酸还原酶 急性淋巴细胞白血病 急性髓细胞白血病 

分 类 号：R733.71[医药卫生—肿瘤]