Zheng Miao-miao, Yue Li-jie, Zhang Hong-hong, Yang Chun-lan, Xie Cai
Institute of Pediatrics Research, Shenzhen Children's Hospital, Zunyi Medical College, Shenzhen, Guangdong 518026, P. R. China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Aug;30(4):451-5. doi: 10.3760/cma.j.issn.1003-9406.2013.04.016.
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.
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.
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% CI: 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).
Our data suggested that C677T polymorphism of MTHFR gene may increase the risk of childhood AML.
评估亚甲基四氢叶酸还原酶（MTHFR）基因多态性是否与中国汉族儿童急性淋巴细胞白血病（ALL）或急性髓细胞白血病（AML）的易感性相关。
该研究纳入了87例ALL患者、22例AML患者和120例健康对照。所有受试者均采用逆转录-聚合酶链反应-变性梯度凝胶电泳及测序进行分析。
MTHFR基因677C>T基因型与ALL风险降低相关（OR=0.23，95%CI：0.07-0.79）。然而，MTHFR A1298C基因型与这两种疾病的风险均无关。677TT/1298AA和677CC/1298AC基因型与ALL风险增加相关（分别为OR=3.78，95%CI：1.38-10.40；OR=3.17，95%CI：1.18-8.53），而基因型677C>T/1298AA与AML易感性相关（OR=0.23，95%CI：0.06-0.97）。
我们的数据表明，MTHFR基因C677T多态性可能增加儿童AML的风险。
