title: Genotyping of the MTHFR gene polymorphism, C677T in patients with leukemia by melting curve analysis.
abstract: BACKGROUND
  Methylenetetrahydrofolate reductase (MTHFR) plays a critical role in folate metabolism and displays common genetic polymorphisms affecting the enzyme activity. The MTHFR genetic polymorphisms have been associated with a decrease in the risk of developing the lymphoid but not myeloid form of pediatric and adult leukemias.
  
  
  OBJECTIVE
  In this study we describe the genotyping of the MTHFR C677T polymorphism by melting curve analysis with the LightCycler in a case-controlled study of patients with acute lymphocytic leukemia (ALL), myelogenous leukemia (AML), and chronic myelogenous leukemia (CML), and assess the effect of this common polymorphism on the leukemia risk in adult patients in Turkey.
  
  
  METHODS
  DNA from peripheral blood lymphocytes was used for genotyping in the LightCycler PCR by melting curve analysis. The risk of leukemia associated with the MTHFR polymorphism was evaluated by comparing the genotype frequencies between the control and patient groups.
  
  
  RESULTS
  The frequency of the homozygote variant genotype (677TT) was lower than that in healthy individuals in all three leukemia groups. The 677TT genotype did not appear to have a protective effect in patients with ALL (Odds ratio [OR] = 0.78 with a 95% confidence interval [CI] = 0.24-2.59), compared with healthy controls. The difference was higher (4.3-fold) in patients with AML, but still non-significant (OR = 0.23 with a 95% CI = 0.03-1.83). In patients with CML, the frequencies of both heterozygous (677CT) and homozygote variant genotypes were lower (OR = 0.72 and 0.66, respectively).
  
  
  CONCLUSIONS
  Our results suggest that the MTHFR C677T polymorphism displays a similar distribution pattern in lymphoid and myeloid leukemias and that the frequency of the homozygote variant genotype (677TT) is lower in all leukemia types.
authors.affiliation: Department of Basic Oncology, Oncology Institute, Istanbul University, Istanbul, Turkey.
authors.forename: Ugur
authors.initials: U
authors.lastname: Deligezer
authors.forename: Ebru
authors.initials: E
authors.lastname: Akisik
authors.forename: Nejat
authors.initials: N
authors.lastname: Dalay
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001483:Base Sequence; D017931:DNA Primers; D004273:DNA, Neoplasm / Q000097:blood / Q000235:genetics* / Q000302:isolation & purification; D005260:Female; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D007938:Leukemia / Q000201:enzymology* / Q000453:epidemiology / Q000235:genetics*; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D009691:Nucleic Acid Denaturation; D016133:Polymerase Chain Reaction / Q000379:methods; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012307:Risk Factors
chemical_list: D017931:DNA Primers; D004273:DNA, Neoplasm; D042965:Methylenetetrahydrofolate Reductase (NADPH2)