The C677T polymorphism of the methylenetetrahydrofolate reductase gene in Mexican mestizo neural-tube defect parents, control mestizo and native populations

Ingrid Patricia Dávalos, Norma Olivares, María Teresa Castillo, José Maria Cantú, Bertha Ibarra, Lucila Sandoval, María Cristina Morán, Martha Patricia Gallegos, Ranajit Chakraborty, Fernando Rivas

Research output: Contribution to journalArticle

40 Scopus citations

Abstract

The C677T mutation of the methylenetetrahydrofolate reductase (MTHFR) gene, associated with the thermolabile form of the enzyme, has reportedly been found to be increased in neural-tube defects (NTD), though this association is still unclear. A group of 107 mestizo parents of NTD children and five control populations: 101 Mestizo (M), 50 Huichol (H), 38 Tarahumara (T), 21 Purepecha (P) and 20 Caucasian (C) individuals were typed for the MTHFR C677T variant by the PCR/RFLP (HinfI) method. Genotype frequencies were in agreement with the Hardy-Weinberg expectations in all six populations. Allele frequency (%) of the C677T variant was 45 in NTD, 44 in M, 56 in H, 36 in T, 57 in P, 35 in C. Pairwise inter-population comparisons of allele frequency disclosed a very similar distribution between NTD and M groups (exact test, P = 0.92). Among controls, differences between M and individual native groups were NS (0.06 < P < 0.21), as it was between M and C (P = 0.29). A high frequency of the variant was found in H (56 %) and P (57 %). A similar allele frequency in groups M and NTD does not support a causal relationship between NTD and parental MTHFR C677T genotypes. Thus, the C677T variant cannot be regarded as a major genetic risk factor for NTD in Mexican mestizo parents. Otherwise, C677T in Mexico is very frequent, especially in Huichol and Purepecha natives, as compared with other groups world wide. (C) 2000 Editions scientifiques et medicales Elsevier SAS.

Original languageEnglish
Pages (from-to)89-92
Number of pages4
JournalAnnales de Genetique
Volume43
Issue number2
DOIs
StatePublished - 1 Jan 2000

Keywords

  • C677T mutation
  • MTHFR
  • Neural tube defects

Fingerprint Dive into the research topics of 'The C677T polymorphism of the methylenetetrahydrofolate reductase gene in Mexican mestizo neural-tube defect parents, control mestizo and native populations'. Together they form a unique fingerprint.

  • Cite this

    Dávalos, I. P., Olivares, N., Castillo, M. T., Cantú, J. M., Ibarra, B., Sandoval, L., Morán, M. C., Gallegos, M. P., Chakraborty, R., & Rivas, F. (2000). The C677T polymorphism of the methylenetetrahydrofolate reductase gene in Mexican mestizo neural-tube defect parents, control mestizo and native populations. Annales de Genetique, 43(2), 89-92. https://doi.org/10.1016/S0003-3995(00)90012-1