TY - JOUR
T1 - Methylenetetrahydrofolate reductase gene polymorphisms and the risk of anencephaly in Mexico
AU - Muñoz, Julia Blanco
AU - Lacasaña, Marina
AU - Cavazos, Ricardo García
AU - Borja-Aburto, Victor Hugo
AU - Galavíz-Hernández, Carlos
AU - Garduño, Clemente Aguilar
N1 - Funding Information:
To all the case and control mothers, because without them it would not have been possible to carry out this study. To the Health Services in the states of Puebla, Guerrero and Estado de Mexico for their logistic support. This project was supported by the National Council of Science and Technology (CONACYT) no. 28203-M.
PY - 2007/6
Y1 - 2007/6
N2 - The precise etiology of neural tube defects (NTDs) is not known. There is some evidence that mutations in MTHFR gene provide susceptibility to NTDs in some populations; however, other studies have not found this association. One of the problems with previous studies is that they treat NTDs as a homogeneous group, when specific defects could have different etiologies. We conducted a case-control study specifically for anencephaly, based on the Mexican Epidemiological Surveillance System of Neural Tube Defects to evaluate its association with maternal MTHFR 677C > T and 1298A > C polymorphisms, in three states with high frequencies of NTDs: Puebla, Estado de México and Guerrero. We interviewed and collected blood samples from 118 case mothers and 112 control mothers. The questionnaire included information on their reproductive history, socioeconomic characteristics, prenatal care, tobacco and alcohol use, presence of chronic diseases, acute illnesses and fever, consumption of multivitamins and drugs during the periconceptional period. After adjusting for potential confounders, the risk from the mutated homozygous mothers (677TT genotype) was significantly higher than that from mothers with 677CC genotype (OR 3.16, 95% CI 1.29-7.73); in the case of the heterozygous mothers, an increased risk of anencephaly was observed, even though this was not statistically significant (OR 1.81 95% CI 0.78-4.25). The association found between maternal 677TT genotype and anencephaly and the elevated presence of the 677T allele among Mexican women of fertile age urges intensifying folic acid supplementation which has proved to modify this genetic risk in other populations.
AB - The precise etiology of neural tube defects (NTDs) is not known. There is some evidence that mutations in MTHFR gene provide susceptibility to NTDs in some populations; however, other studies have not found this association. One of the problems with previous studies is that they treat NTDs as a homogeneous group, when specific defects could have different etiologies. We conducted a case-control study specifically for anencephaly, based on the Mexican Epidemiological Surveillance System of Neural Tube Defects to evaluate its association with maternal MTHFR 677C > T and 1298A > C polymorphisms, in three states with high frequencies of NTDs: Puebla, Estado de México and Guerrero. We interviewed and collected blood samples from 118 case mothers and 112 control mothers. The questionnaire included information on their reproductive history, socioeconomic characteristics, prenatal care, tobacco and alcohol use, presence of chronic diseases, acute illnesses and fever, consumption of multivitamins and drugs during the periconceptional period. After adjusting for potential confounders, the risk from the mutated homozygous mothers (677TT genotype) was significantly higher than that from mothers with 677CC genotype (OR 3.16, 95% CI 1.29-7.73); in the case of the heterozygous mothers, an increased risk of anencephaly was observed, even though this was not statistically significant (OR 1.81 95% CI 0.78-4.25). The association found between maternal 677TT genotype and anencephaly and the elevated presence of the 677T allele among Mexican women of fertile age urges intensifying folic acid supplementation which has proved to modify this genetic risk in other populations.
KW - Anencephaly
KW - MTHFR polymorphisms
KW - Mexico
UR - http://www.scopus.com/inward/record.url?scp=34447528913&partnerID=8YFLogxK
U2 - 10.1093/molehr/gam017
DO - 10.1093/molehr/gam017
M3 - Artículo
SN - 1360-9947
VL - 13
SP - 419
EP - 424
JO - Molecular Human Reproduction
JF - Molecular Human Reproduction
IS - 6
ER -