Korean J Lab Med.  2005 Dec;25(6):379-384.

Polymorphism of Methylenetetrahydrofolate Reductase Gene and the Risk of Childhood Acute Lymphoblastic Leukemia

• Yoo SJ
• Shim EH
• Kang SY
• Jang S
• Seo EJ
• Park CJ
• Chi HS

Abstract

BACKGROUND
The polymorphisms, C677T and A1298C in the methylenetetrahydrofolate reductase (MTHFR) gene express a decreased enzyme activity. These polymorphic variants are known to decrease the risk of some malignancies. We examined whether the polymorphisms in MTHFR gene play a role in childhood acute lymphoblastic leukemia (ALL). METHODS: Peripheral blood or bone marrow samples were collected from 99 ALL patients aged <16 years and 105 age and sex matched controls. We performed PCR-restriction fragment length polymorphism with HinF1 for C677T and MboII A1298C. RESULTS: The frequencies of 677CC, 677CT, and 677TT genotypes were 43.4%, 46.5% and 10.1% in patients and 39.0%, 45.7%, and 15.2% in controls. The 677TT variants seemed to decrease the risk for ALL than the 677CC genotype, but the difference was not statistically significant (OR=0.60, 95% CI=0.2-1.5). The frequencies of 1298AA, 1298AC, and 1298CC genotype were 66.7%, 26.3% and 7.1% in patients and 60.0%, 38.1% and 1.9% in controls. The 1298CC genotype seemed to increase the risk for ALL than 1298AA, but without statistical significance (OR=3.34, 95% CI=0.7- 18.1). These findings were more evident in the patient groups with hyperploid and translocation than those with normal karyotypes. CONCLUSIONS: In our series, MTHFR C677T and A1298C polymorphism did not show a statistically significant protective effect for the childhood ALL.

Keyword

Methylenetetrahydrofolate reductase; Polymorphism; Acute lymphoblastic leukemia

MeSH Terms

Bone Marrow
Genotype
Humans
Karyotype
Methylenetetrahydrofolate Reductase (NADPH2)*
Precursor Cell Lymphoblastic Leukemia-Lymphoma*
Methylenetetrahydrofolate Reductase (NADPH2)