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5,10‐Methylenetetrahydrofolate reductase single nucleotide polymorphisms and gene–environment interaction analysis in non‐syndromic cleft lip/palate
Author(s) -
EstandiaOrtega Bernardette,
VelázquezAragón José A.,
AlcántaraOrtigoza Miguel A.,
ReynaFabian Miriam E.,
VillagómezMartínez Sandra,
Gonzálezdel Angel Ariadna
Publication year - 2014
Publication title -
european journal of oral sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.802
H-Index - 93
eISSN - 1600-0722
pISSN - 0909-8836
DOI - 10.1111/eos.12114
Subject(s) - methylenetetrahydrofolate reductase , genotype , medicine , single nucleotide polymorphism , pregnancy , case control study , genetics , reductase , endocrinology , physiology , gastroenterology , gene , biology , enzyme , biochemistry
Non‐syndromic cleft lip/palate ( NSCL / P ) is a common congenital defect in M exico. Periconceptional intake of folic acid ( FA ) may reduce the risk of this malformation. Although the 5,10‐methylenetetrahydrofolate reductase ( MTHFR ) enzyme participates in folate metabolism, several studies failed to find any association between NSCL / P and the MTHFR C 677 T and A 1298 C polymorphisms. However, interactions among NSCL / P , MTHFR gene polymorphisms, and FA intake have not been explored in M exican populations. This case–control study included 132 patients with NSCL / P and 370 controls from M exico C ity. Maternal FA consumption during pregnancy was examined, as were the MTHFR C 677 T and A 1298 C polymorphisms and gene– FA interactions. Maternal FA intake during the periconceptional period was lower in cases (1.5%) than in controls (13%), with the risk of delivering a child with NSCL / P lower in mothers who consumed FA ( OR = 0.29, 95% CI : 0.19–0.44). In addition, the risk of NSCL /P was lower in children with the TT than the CC genotype of MTHFR C677T ( OR = 0.39, 95% CI : 0.23–0.68), after B onferroni correction and exclusion of stratification. No evidence of gene– FA interaction was found. These results indicate that maternal FA intake and the TT genotype of the MTHFR C 677 T polymorphism in children independently reduced the risk of NSCL / P in our population.