title: Homocysteine concentrations in adults with trisomy 21: effect of B vitamins and genetic polymorphisms.
abstract: BACKGROUND
  The effects of supplementation with B vitamins and of common polymorphisms in genes involved in homocysteine metabolism on plasma total homocysteine (tHcy) concentrations in trisomy 21 are unknown.
  
  
  OBJECTIVE
  We aimed to determine the effects of orally administered folic acid and of folic acid combined with vitamin B-12, vitamin B-6, or both on tHcy in adults with trisomy 21. The study was also intended to analyze the possible influence of gene polymorphisms.
  
  
  METHODS
  One hundred sixty adults with trisomy 21 and 160 healthy, unrelated subjects aged 26 +/- 4 y were included. Plasma tHcy, red blood cell folate, serum folate, and vitamin B-12 were measured. Genotyping for the common methylenetetrahydrofolate reductase (MTHFR) 677C-->T, MTHFR 1298A-->C, cystathionine beta-synthase 844Ins68, methionine synthase 2756A-->C, methionine synthase reductase 66A-->G, and reduced folate carrier 80G-->A polymorphisms was carried out.
  
  
  RESULTS
  The mean tHcy concentration (9.8 +/- 0.7 micromol/L) of cases who did not use vitamins was not significantly different from that of controls (9.4 +/- 0.3 micromol/L). Plasma tHcy concentrations (7.6 +/- 0.3 mmol/L) in cases who used folic acid were significantly lower than in cases who did not. Folic acid combined with vitamin B-12 did not significantly change tHcy concentrations compared with those in cases who used only folic acid. Folic acid combined with vitamins B-6 and B-12 significantly lowered tHcy (6.5 +/- 0.5 micromol/L). The difference in tHcy according to MTHFR genotype was not significant. However, tHcy concentrations were slightly higher in TT homozygotes among the controls but not among the cases.
  
  
  CONCLUSIONS
  This study provides information on the relation between several polymorphisms in genes involved in homocysteine and folate metabolism in adults with trisomy 21.
authors.affiliation: Faculté de Médecine, Laboratory of Medical Biochemistry, Vandoeuvre-Lès-Nancy, France.
authors.forename: Nathalie
authors.initials: N
authors.lastname: Fillon-Emery
authors.forename: Abalo
authors.initials: A
authors.lastname: Chango
authors.forename: Clotilde
authors.initials: C
authors.lastname: Mircher
authors.forename: Françoise
authors.initials: F
authors.lastname: Barbé
authors.forename: Henri
authors.initials: H
authors.lastname: Bléhaut
authors.forename: Bernard
authors.initials: B
authors.lastname: Herbeth
authors.forename: David S
authors.initials: DS
authors.lastname: Rosenblatt
authors.forename: Marie-Odile
authors.initials: MO
authors.lastname: Réthoré
authors.forename: Daniel
authors.initials: D
authors.lastname: Lambert
authors.forename: Jean Pierre
authors.initials: JP
authors.lastname: Nicolas
mesh_terms: D013766:5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase / Q000235:genetics; D000284:Administration, Oral; D000293:Adolescent; D000328:Adult; D016022:Case-Control Studies; D003541:Cystathionine beta-Synthase / Q000235:genetics; D019587:Dietary Supplements; D004314:Down Syndrome / Q000097:blood* / Q000188:drug therapy / Q000235:genetics; D004357:Drug Synergism; D005260:Female; D005287:Ferredoxin-NADP Reductase / Q000235:genetics; D005492:Folic Acid / Q000008:administration & dosage* / Q000097:blood; D005838:Genotype; D006710:Homocysteine / Q000097:blood* / Q000187:drug effects; D006720:Homozygote; D006801:Humans; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics; D008875:Middle Aged; D011110:Polymorphism, Genetic; D058978:Reduced Folate Carrier Protein; D014805:Vitamin B 12 / Q000008:administration & dosage* / Q000097:blood; D025101:Vitamin B 6 / Q000008:administration & dosage*
chemical_list: D026901:Membrane Transport Proteins; D058978:Reduced Folate Carrier Protein; C548699:SLC19A1 protein, human; D006710:Homocysteine; D025101:Vitamin B 6; D005492:Folic Acid; C111241:methionine synthase reductase; D005287:Ferredoxin-NADP Reductase; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D013766:5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; D003541:Cystathionine beta-Synthase; D014805:Vitamin B 12