Mol. Hum. Reprod. Advance Access originally published online on April 16, 2007
Molecular Human Reproduction 2007 13(6):419-424; doi:10.1093/molehr/gam017
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Methylenetetrahydrofolate reductase gene polymorphisms and the risk of anencephaly in Mexico
1 Department of Environmental Health, National Institute of Public Health, Cuernavaca, CP 62508, Mexico 2 Andalusian School of Public Health, Granada, CP 18080, Spain 3 Deparment of Training and Medical Education (Dirección de Enseñanza), National Institute of Perinatology, Mexico DF, CP 11000, Mexico 4 Occupational Health Coordination (Coordinación Normativa de Salud en el Trabajo) National Medical Center ‘Siglo XXI’, IMSS, Mexico DF, CP 06725, Mexico 5 Department of Genomic Medicine and Clinical Genetic, National Medical Center ‘20 de Noviembre’, ISSSTE, Mexico DF, CP 03229, Mexico 6 Laboratory of Medical Investigations, San Cecilio University Hospital, Granada, CP 18080, Spain
7 Correspondence address. E-mail: marina.lacasana.easp{at}juntadeanadalucia.es, mlacasan{at}correo.insp.mx
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
Key words: anencephaly/Mexico/MTHFR polymorphisms
Submitted on December 20, 2006; resubmitted on February 27, 2007; accepted on February 28, 2007.
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