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No association between common polymorphisms in genes of folate and homocysteine metabolism and the risk of Down's syndrome among French mothers

Published online by Cambridge University Press:  08 March 2007

Abalo Chango ,
Nathalie Fillon-Emery ,
Clotilde Mircher ,
Henri Bléhaut ,
Daniel Lambert ,
Bernard Herbeth ,
S. Jill James ,
Marie-Odile Réthoré  and
Jean Pierre Nicolas
Abalo Chango*
Affiliation:
INSERM U 724, Laboratory of Nutritional Genomics, ISAB – Agrohealth, Rue Pierre Waguet, 60 026 - Beauvais, France
Nathalie Fillon-Emery
Affiliation:
INSERM U 724, Laboratory of Medical Biochemistry, Faculty of Medicine, Vandoeuvre-lès-Nancy, France
Clotilde Mircher
Affiliation:
Jerome Lejeune Institute, Paris, France
Henri Bléhaut
Affiliation:
Jerome Lejeune Institute, Paris, France
Daniel Lambert
Affiliation:
INSERM U525, Nancy, France
Bernard Herbeth
Affiliation:
INSERM U525, Nancy, France
S. Jill James
Affiliation:
Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock AR, USA
Marie-Odile Réthoré
Affiliation:
Jerome Lejeune Institute, Paris, France
Jean Pierre Nicolas
Affiliation:
INSERM U 724, Laboratory of Medical Biochemistry, Faculty of Medicine, Vandoeuvre-lès-Nancy, France
*
*Corresponding author: Dr Abalo Chango, fax +33 344 06 2526, email [email protected]
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Abstract

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The cause of the non-disjunction leading to trisomy 21 remains unclear. Recent evidence has suggested that 5, 10-methylenetetrahydrofolate reductase (MTHFR) and/or methionine synthase reductase (MTRR) might contribute to the maternal risk of trisomy 21. The purpose of the present study was to analyse these findings among the French population and to investigate whether common polymorphisms in genes of the folate and homocysteine pathway, including the MTHFR 677C>T, MTHFR 1298A>C, the methionine synthase (MTR) 2756A>G, the cystathionine β-synthase (CBS) 844Ins68 and the reduced folate carrier (RFC-1) 80G>A polymorphisms, contribute to the risk of trisomy 21. The risk was studied by analysing independent and combined genotypes in 119 case mothers and 119 control mothers. The MTHFR 677T, MTHFR 1298C, MTR2756G, MTRR66G, CBSIns68+ and the RFC-1 80G allele frequencies were not significantly different among French case mothers, compared with control mothers. The risk of having a child with trisomy 21 did not appear to be linked to polymorphisms in genes associated with folate and homocysteine metabolism.

Keywords

Down's syndromeFolatePolymorphismRisk
Type
Research Article
Information
British Journal of Nutrition , Volume 94 , Issue 2 , August 2005 , pp. 166 - 169
Copyright
Copyright © The Nutrition Society 2005

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