title: Polymorphisms involved in folate metabolism pathways and the risk of the development of childhood acute leukemia.
abstract: OBJECTIVE
  Polymorphisms that reduce the activity of reduced folate carrier (RFC) and methylenetetrahydrofolate reductase (MTHFR) and double (2R2R) or triple (3R3R) 28-bp tandem repeats in the promoter region of thymidylate synthase (TS) have been associated with the risk of childhood acute leukemia (AL). A case-control genotyping study was conducted in Brazilian children with the aim of investigating RFC, MTHFR, and TS polymorphisms as risk factors.
  
  
  METHODS
  The polymerase chain reaction-restriction fragment length polymorphism method was employed in 177 AL cases and 390 controls.
  
  
  RESULTS
  The presence of the mutant 1298C, also RFC 80A, was linked to a decreased risk of developing acute lymphoid leukemia (ALL) (odds ratio (OR)=0.46, 95% confidence interval (CI)=0.30-071 and OR=0.51, 95% CI=0.28-0.0.93, respectively).
  
  
  CONCLUSIONS
  The genotype 677 CT was associated with increased risk of developing ALL (OR=1.6, 95% CI=1.1-2.7). Further epidemiological study is needed to unravel the role of complex multiple gene-environment interactions in leukemogenesis.
authors: Departamento de Genética, Universidade Federal de Pernambuco, Recife, Brazil.
authors: Rafaela Maria Seabra
authors: RM
authors: Silva
authors: Alide Caroline Lima
authors: AC
authors: Fontes
authors: Karina Alves
authors: KA
authors: Silva
authors: Thalita Araújo
authors: TA
authors: Sant'Ana
authors: Flávio José da Costa
authors: FJ
authors: Ramos
authors: Terezinha de Jesus
authors: Tde J
authors: Marques-Salles
authors: Maria S
authors: MS
authors: Pombo-de-Oliveira
authors: Maria Tereza Cartaxo
authors: MT
authors: Muniz
mesh_terms: D000293:Adolescent; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D005260:Female; D005492:Folic Acid / Q000378:metabolism*; D005838:Genotype; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics*; D051818:Replication Protein C / Q000235:genetics*; D012306:Risk; D013940:Thymidylate Synthase / Q000235:genetics*; D055815:Young Adult
chemical_list: C081632:RFC1 protein, human; D005492:Folic Acid; C573423:MTHFR protein, human; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D013940:Thymidylate Synthase; D051818:Replication Protein C