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

Br J Nutr. 2005 Aug;94(2):166-9. doi: 10.1079/bjn20051490.


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 beta-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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase / genetics
  • Adult
  • Down Syndrome / genetics*
  • Down Syndrome / metabolism
  • Female
  • Ferredoxin-NADP Reductase / genetics
  • Folic Acid / genetics*
  • Folic Acid / metabolism
  • France
  • Genotype
  • Homocysteine / genetics*
  • Homocysteine / metabolism
  • Humans
  • Membrane Transport Proteins / genetics
  • Methylenetetrahydrofolate Reductase (NADPH2) / genetics
  • Mothers
  • Polymorphism, Genetic / genetics*
  • Reduced Folate Carrier Protein
  • Risk Factors


  • Membrane Transport Proteins
  • Reduced Folate Carrier Protein
  • SLC19A1 protein, human
  • Homocysteine
  • Folic Acid
  • methionine synthase reductase
  • Ferredoxin-NADP Reductase
  • Methylenetetrahydrofolate Reductase (NADPH2)
  • 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase