Oh Doyeun, Kim Nam Keun, Jang Moon Ju, Kim Hugh Chul, Lee Jae Hoon, Lee Jung Ae, Ahn Myung Ju, Kim Chul Soo, Kim Heung Sik, Park Seonyang, Chio Hyun Sook, Min Yoo Hong
Institute for Clinical Research, 2Department of Internal Medicine, Pochon CHA University, Seongnam, South Korea.
Anticancer Res. 2007 Sep-Oct;27(5A):3419-24.
Methylenetetrahydrofolate reductase (MTHFR) plays a central role in converting folate to methyl donor for DNA methylation. Because MTHFR is a key enzyme in folate metabolism, changes in its activity resulting from polymorphisms in the MTHFR gene could modify the susceptibility to cancer. Recently, the C677T and A1298C mutations of MTHFR were discovered to be associated with susceptibility in acute lymphoblastic leukemia (ALL).
The association between MTHFR polymorphisms and susceptibility and clinical outcome in ALL was studied in 118 adult ALL patients and matched healthy controls (n =427). DNA samples taken from patients with ALL and controls were analyzed using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assays to detect the MTHFR C677T and A1298C mutations.
No significant difference was found in the development of adult ALL among those with different MTHFR genotypes of the C677T or A1298C polymorphisms. However, the MTHFR 677CT+TT genotype showed a tendency to be associated with adult ALL [crude odds ratio (OR), 0.67; 95% confidence interval (CI), 0.44-1.02; adjusted OR, 0.74 95% CI, 0.47-1.14].
The MTHFR C677T and A1298C polymorphisms are not significant risk factors in adult acute leukemia in the Korean population.
亚甲基四氢叶酸还原酶（MTHFR）在将叶酸转化为DNA甲基化的甲基供体过程中起核心作用。由于MTHFR是叶酸代谢中的关键酶，MTHFR基因多态性导致其活性改变可能会改变癌症易感性。最近，发现MTHFR的C677T和A1298C突变与急性淋巴细胞白血病（ALL）的易感性有关。
在118例成年ALL患者及匹配的健康对照者（n = 427）中研究MTHFR多态性与ALL易感性及临床结局之间的关联。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）分析法对ALL患者和对照者的DNA样本进行分析，以检测MTHFR C677T和A1298C突变。
在C677T或A1298C多态性的不同MTHFR基因型患者中，成人ALL的发病情况未发现显著差异。然而，MTHFR 677CT + TT基因型显示出与成人ALL相关的趋势[粗比值比（OR），0.67；95%置信区间（CI），0.44 - 1.02；校正OR，0.74；95%CI，0.47 - 1.14]。
在韩国人群中，MTHFR C677T和A1298C多态性不是成人急性白血病的显著危险因素。
