title: Association of the methylenetetrahydrofolate reductase polymorphism in Korean patients with childhood acute lymphoblastic leukemia.
abstract: BACKGROUND
  Methylenetetrahydrofolate reductase plays a central role in converting folate to methyl donor for DNA methylation. Recently, methylenetetrahydrofolate reductase (MTHFR C677T and A1298C) mutations were discovered to be associated with childhood acute lymphoblastic leukemia (ALL), as well as colon cancer, lymphoma, esophageal and stomach cancer. Therefore, it was hypothesized that the MTHFR polymorphisms are associated with the risk of childhood ALL in the Korean population.
  
  
  METHODS
  DNA samples taken from 66 patients with ALL and 100 age-matched controls were analyzed using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay for detection of MTHFR C677T and A1298C mutations.
  
  
  RESULTS
  The frequency of the AC genotype for MTHFR A1298C polymorphism was significantly different between the controls and the cases (OR, 2.22; CI, 95% 1.09-4.51, p=0.03). The 1298AC+CC genotype was also significantly different (OR, 2.11; 95% CI, 1.06-4.22; p=0.049). There was, however, no significant difference for MTHFR C677T polymorphism and combined genotype frequencies between the two groups.
  
  
  CONCLUSIONS
  Although no consistent results on associations between MTHFR A 1298C polymorphism and ALL in the populations studied were obtained, the A1298C polymorphism, at least in Koreans, may be a genetic determinant among childhood ALL patients.
authors.affiliation: Institute for Clinical Research, Bundang CHA General Hospital, College of Medicine, Pochon CHA University, South Korea.
authors.forename: Nam Keun
authors.initials: NK
authors.lastname: Kim
authors.forename: So Young
authors.initials: SY
authors.lastname: Chong
authors.forename: Moon Ju
authors.initials: MJ
authors.lastname: Jang
authors.forename: Seung Ho
authors.initials: SH
authors.lastname: Hong
authors.forename: Heung Sik
authors.initials: HS
authors.lastname: Kim
authors.forename: Eun Kyung
authors.initials: EK
authors.lastname: Cho
authors.forename: Jung Ae
authors.initials: JA
authors.lastname: Lee
authors.forename: Myung Ju
authors.initials: MJ
authors.lastname: Ahn
authors.forename: Chul Soo
authors.initials: CS
authors.lastname: Kim
authors.forename: Doyeun
authors.initials: D
authors.lastname: Oh
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D004273:DNA, Neoplasm / Q000235:genetics; D005260:Female; D005838:Genotype; D006801:Humans; D007223:Infant; D007723:Korea; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D009154:Mutation; D011110:Polymorphism, Genetic; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000201:enzymology* / Q000235:genetics*
chemical_list: D004273:DNA, Neoplasm; D042965:Methylenetetrahydrofolate Reductase (NADPH2)