title: Associations between MTHFR 1793G>A and plasma total homocysteine, folate, and vitamin B in kidney transplant recipients.
abstract: BACKGROUND
  Currently, no evidence is available on the putative associations between a novel single nucleotide polymorphism of the 5,10-methylenetetrahydrofolate reductase gene MTHFR 1793G>A and plasma levels of vitamin B(12), folate, or total homocysteine (tHcy).
  
  
  METHODS
  In a cross-sectional study of 730 kidney allograft recipients, patients were categorized by MTHFR 1793G>A genotype. In univariate and multivariate linear regression models that allowed the outcome variables vitamin B(12), folate, and tHcy plasma levels to follow a gamma distribution, we tested for possible associations of allelic variants of MTHFR 1793G>A and these three dependent variables. As hypothesized in previous work, we specifically evaluated possible effect modification between the MTHFR 1793G>A and 1298A>C mutations on these outcomes.
  
  
  RESULTS
  The allele frequency for MTHFR 1793G>A was 0.052. Heterozygosity (N= 72) or homozygosity (N= 2) for MTHFR 1793G>A was not independently associated with plasma levels of vitamin B(12) (P= 0.33) or tHcy (P= 0.70), but a borderline association with higher folate concentrations was detected (Deltafolate = 1.91 nmol/L) (95% CI -0.03 to 3.86 nmol/L) (P= 0.05). Further, we found strong and significant positive interactions between the MTHFR 1793G>A and 1298A>C mutations on vitamin B(12) concentrations.
  
  
  CONCLUSIONS
  Higher folate concentrations in kidney transplant recipients with MTHFR 1793GA or 1793AA and markedly higher concentrations of vitamin B(12) in patients with combined MTHFR 1793G>A and 1298A>C mutations may contribute to the survival advantage that has been postulated for such patients showing these genotypes.
authors.affiliation: Division of Pharmacoepidemiology and Pharmacoeconomics, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
authors.forename: Wolfgang C
authors.initials: WC
authors.lastname: Winkelmayer
authors.forename: Andrea
authors.initials: A
authors.lastname: Huber
authors.forename: Oswald F
authors.initials: OF
authors.lastname: Wagner
authors.forename: Walter H
authors.initials: WH
authors.lastname: Hörl
authors.forename: Gere
authors.initials: G
authors.lastname: Sunder-Plassmann
authors.forename: Manuela
authors.initials: M
authors.lastname: Födinger
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D003430:Cross-Sectional Studies; D005260:Female; D005492:Folic Acid / Q000097:blood*; D005838:Genotype; D006710:Homocysteine / Q000097:blood*; D006801:Humans; D007674:Kidney Diseases / Q000097:blood / Q000201:enzymology / Q000235:genetics / Q000601:surgery; D016030:Kidney Transplantation / Q000502:physiology*; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D016896:Treatment Outcome; D014805:Vitamin B 12 / Q000097:blood*
chemical_list: D006710:Homocysteine; D005492:Folic Acid; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D014805:Vitamin B 12