Skip Navigation LinksHome > August 2013 - Volume 61 - Issue 6 > Maternal C677T MTHFR Polymorphism and Environmental Factors...
Journal of Investigative Medicine:
doi: 10.231/JIM.0b013e31829a7e7e
Original Articles

Maternal C677T MTHFR Polymorphism and Environmental Factors Are Associated With Cleft Lip and Palate in a Mexican Population

Ibarra-Lopez, Jose Jesus MD*; Duarte, Patricia PhD; Antonio-Vejar, Veronica MD*; Calderon-Aranda, Emma S. PhD; Huerta-Beristain, Gerardo PhD*; Flores-Alfaro, Eugenia PhD*; Moreno-Godinez, Ma. Elena PhD*

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Introduction: Nonsyndromic cleft lip and cleft palate (CL/P) is associated with environmental, nutritional, and genetic factors. Maternal polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene have been associated with CL/P.

Objectives: To determine the relationship between the risk of having a child with CL/P and maternal C677T and A1298C MTHFR polymorphisms, the intake of folate supplements, and exposure to environmental factors during the first trimester of pregnancy, a case-control study of Mexican mothers (88 case mothers and 116 control mothers) was conducted.

Methods: A questionnaire was used to assess exposure to environmental factors. The C677T and A1298C polymorphisms were identified by polymerase chain reaction with restriction fragment length polymorphism.

Results: Mothers with the 677CT or 677TT genotype had a higher risk of having a child with CL/P than mothers with the 677CC genotype (odds ratio [OR], 2.4; 95% confidence interval [CI], 1.1–5.7). An increased risk of having a child with CL/P was associated with the lack of folate supplementation during the first trimester of pregnancy (OR, 3.8; 95% CI, 1.9–7.6), and this risk was greater in the mothers with the 677TT or 677CT genotype than mothers who reported taking folate supplements and had the 677CC genotype (OR, 11.2; 95% CI, 3.3–37.5). Pesticide exposure was associated with CL/P. There was no significant association between either the A1298C variant or tobacco exposure and the risk of CL/P.

Conclusion: These results suggest that gene-environment interactions play an important role in the development of CL/P.

Copyright © 2013 by the American Federation for Medical Research.


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