title: A1298C polymorphism of the MTHFR gene and neural tube defects in the state of Yucatan, Mexico.
abstract: BACKGROUND
  Methylenetetrahydrofolate reductase (MTHFR) of the folate metabolism pathway is a candidate gene for neural tube defects (NTDs). Frequency of the second common polymorphism, A1298C, in the MTHFR gene is not well known in Mexico. Conflicting results exist regarding the association of A1298C-MTHFR with NTDs. One explanation for this controversy might be that alleles are differently distributed among various populations. The aim of the study was to determine the frequency of the A1298C-MTHFR polymorphism and its association with NTDs in a population of Yucatan, Mexico.
  
  
  METHODS
  Genotyping was performed by use of polymerase chain reaction with restriction fragment length polymorphisms using MbOII endonuclease (PCR-RFLPs MbOII). Allele and genotype frequencies were compared between cases with NTDs, their mothers and fathers with matched controls based on an association analysis using EpiInfo software.
  
  
  RESULTS
  A1298C genotypes were distributed according to Hardy-Weinberg expectations for all studied groups. Frequencies of allele C and heterozygous AC genotype were significantly higher in males (p = .006 and p = .011, respectively) in control group. Significant differences were not observed between cases and controls, except in mothers of NTD cases compared with mothers of healthy offspring for both allele C and heterozygous AC genotype (p = .009 and p = .01, respectively).
  
  
  CONCLUSIONS
  The polymorphism A1298C-MTHFR is not associated with NTDs, except for mothers, suggesting only a maternal association with having NTD-affected offspring in the Yucatan population. The frequency of allele C in the control population was 10%, which is significantly lower than in other reported control populations worldwide (p < .01).
authors.affiliation: Laboratorio de Genética, Centro de Investigaciones Regionales, Universidad Autónoma de Yucatán, Yucatán, México. lizbeth@uady.mx
authors.forename: Lizbeth
authors.initials: L
authors.lastname: Gonzalez-Herrera
authors.forename: Ileana
authors.initials: I
authors.lastname: Castillo-Zapata
authors.forename: Guadalupe
authors.initials: G
authors.lastname: Garcia-Escalante
authors.forename: Doris
authors.initials: D
authors.lastname: Pinto-Escalante
mesh_terms: D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics* / Q000378:metabolism; D008800:Mexico / Q000453:epidemiology; D009436:Neural Tube Defects / Q000201:enzymology / Q000453:epidemiology / Q000235:genetics*; D011110:Polymorphism, Genetic
chemical_list: D042965:Methylenetetrahydrofolate Reductase (NADPH2)