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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.

[Association of single nucleotide polymorphism of methylenetetrahydrofolate reductase gene with susceptibility to acute leukemia].

[Article in Chinese]

Author information

  • 1Institute of Pediatrics Research, Shenzhen Children's Hospital, Zunyi Medical College, Shenzhen, Guangdong 518026, P. R. China.



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.

[PubMed - indexed for MEDLINE]
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