title: [Methylenetetrahydrofolate reductase polymorphisms as risk factors for myelomeningocele].
abstract: BACKGROUND
  Mandatory fortification with folic acid (FA) was implemented in Chile in 2000. Thereafter, the rate of spina bifida decreased by 52 to 55%. Genetic abnormalities in folate metabolism may be involved in the etiology of spina bifida.
  
  
  OBJECTIVE
  To evaluate the association between myelomeningocele (MM) and c.A1298C and c.C677T polymorphisms within the coding gene for 5,10-methylenetetrahydrofolate reductase (MTHFR) in the Chilean population.
  
  
  METHODS
  These polymorphisms were genotyped in 105 patients showing isolated MM, born after the onset of FA fortification, and in their parents. The transmission disequilibrium test (TDT) was performed to evaluate alterations in the transmission of both alleles and haplotypes MTHFR polymorphism. We also evaluated the presence of parent-origin-effect (POE) of alleles using the Clayton's extension of the TDT.
  
  
  RESULTS
  TDT analysis showed no significant distortions in the transmission of alleles or haplotypes. Moreover, although the POE showed increased risk for maternally derived allele, this risk was not statistically significant.
  
  
  CONCLUSIONS
  The studied variants in the MTHFR gene (c.C677T and c.A1298C) do not constitute risk factors for MM in this sample of Chilean patients and their parents.
authors.forename: Rosa
authors.initials: R
authors.lastname: Pardo
authors.forename: José
authors.initials: J
authors.lastname: Suazo
authors.forename: Silvia
authors.initials: S
authors.lastname: Castillo
authors.forename: Marcela
authors.initials: M
authors.lastname: Vargas
authors.forename: Andrea
authors.initials: A
authors.lastname: Zalavari
authors.forename: José Luis
authors.initials: JL
authors.lastname: Santos
authors.forename: Rafael
authors.initials: R
authors.lastname: Blanco
authors.forename: Karin
authors.initials: K
authors.lastname: Rotter
authors.forename: Margarita
authors.initials: M
authors.lastname: Solar
authors.forename: Eva
authors.initials: E
authors.lastname: Tapia
mesh_terms: D002648:Child; D002675:Child, Preschool; D002677:Chile; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D007223:Infant; D008297:Male; D008591:Meningomyelocele / Q000201:enzymology / Q000235:genetics*; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics*; D012307:Risk Factors; D016135:Spinal Dysraphism / Q000201:enzymology / Q000235:genetics*
chemical_list: D042965:Methylenetetrahydrofolate Reductase (NADPH2)