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*

Collapse Box

Abstract

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

Login

Search for Similar Articles
You may search for similar articles that contain these same keywords or you may modify the keyword list to augment your search.