TY - JOUR
T1 - The C677T polymorphism of the methylenetetrahydrofolate reductase gene in Mexican mestizo neural-tube defect parents, control mestizo and native populations
AU - Dávalos, Ingrid Patricia
AU - Olivares, Norma
AU - Castillo, María Teresa
AU - Cantú, José Maria
AU - Ibarra, Bertha
AU - Sandoval, Lucila
AU - Morán, María Cristina
AU - Gallegos, Martha Patricia
AU - Chakraborty, Ranajit
AU - Rivas, Fernando
N1 - Copyright:
Copyright 2017 Elsevier B.V., All rights reserved.
PY - 2000
Y1 - 2000
N2 - 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.
AB - 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.
KW - C677T mutation
KW - MTHFR
KW - Neural tube defects
UR - http://www.scopus.com/inward/record.url?scp=0033807422&partnerID=8YFLogxK
U2 - 10.1016/S0003-3995(00)90012-1
DO - 10.1016/S0003-3995(00)90012-1
M3 - Article
C2 - 10998450
AN - SCOPUS:0033807422
VL - 43
SP - 89
EP - 92
JO - Annales de Genetique
JF - Annales de Genetique
SN - 0003-3995
IS - 2
ER -