Résumé :
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[BDSP. Notice produite par INIST-CNRS Ai4R0x7M. Diffusion soumise à autorisation]. Periconceptional folic acid supplementation may reduce the risk of cleft lip with or without cleft palate (CL (P)). Polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene reduce availability of 5-methyltetrahydrofolate, the predominant circulating form of folate. To determine the effect of MTHFR C677T and MTHFR A 1298C genotypes and haplotypes on CL (P) risk and the interaction with maternal periconceptional dietary folate and folic acid supplement intake, the authors conducted a case-control triad study in the Netherlands (1998-2000) among 179 CL (P) and 204 control families. Infant and parental MTHFR C677T and MTHFR A1298C genotypes and haplotypes were not associated with CL (P) risk in the case-control and transmission disequilibrium test analyses. Mothers carrying the MTHFR 677TT genotype and who either did not use folic acid supplements periconceptionally or had a low dietary folate intake, or both, had an increased risk of delivering a CL (P) child (odds ratio (OR)=5.9,95% confidence interval (Cl) : 1.1,30.9 ; OR=2.8,95% Cl : 0.7,10.5 ; OR=10.0,95% Cl : 1.3,79.1, respectively). No supplement use, low dietary folate intake, and maternal MTHFR 1298CC genotype increased the risk of CL (P) offspring almost sevenfold (OR=6.5,95% Cl : 1.4,30.2). Thus, the detrimental effect of low periconceptional folate intake on the risk of giving birth to a CL (P) child was more pronounced in mothers with the MTHFR 677TT or MTHFR 1298CC genotype.
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