title: [Polymorphisms in cystathionine beta-synthase and methylenetetrahydrofolate reductase genes as risk factors for cerebral vascular disease].
abstract: OBJECTIVE
  High plasma total homocysteine (tHcy), low dietary intake of folate and other B vitamins, and genetic polymorphisms related to the metabolism of homocysteine may interactively contribute to the risk of cerebral vascular disease (CVD). We explored interrelations between total homocysteine levels and mutations in genes for the two key enzymes in methionine-homocysteine metabolism.
  
  
  METHODS
  We analyzed two polymorphisms, C677T in the MTHFR gene and 844ins68 in the CBS gene. We assessed their association with fasting homocysteine in 64 patients with CVD, and in 159 controls.
  
  
  RESULTS
  No differences in CBS and MTHFR genotype frequencies between cases and controls were found (C677T p = 0.87 and 844ins68 p = 0.63), nor was a particular CBS and MTHFR genotype associated with an elevated risk of CVD. None of the genotypes defined by the CBS and MTHFR variants studied showed an association with elevated fasting homocysteine concentrations (C677T p = 0.07 and 844ins68 p = 0.47).
  
  
  CONCLUSIONS
  We did not find any indication that genetic variation in the CBS and MTHFR genes are associated with homocysteine-related risk of CVD, hence needing further investigation. The contributions to total plasma homocysteine levels of the common mutations of genes coding for the enzymes controlling homocysteine metabolism are modest.
authors.affiliation: Servicio de Bioquímica Clínica, Hospital Universitario Miguel Servet, Zaragoza, Spain. joseignaciogutierrez@redfarma.org
authors.forename: José Ignacio
authors.initials: JI
authors.lastname: Gutiérrez
authors.forename: Flora
authors.initials: F
authors.lastname: Pérez
authors.forename: Manuel
authors.initials: M
authors.lastname: Tamparillas
authors.forename: José María
authors.initials: JM
authors.lastname: Grasa
authors.forename: M Teresa
authors.initials: MT
authors.lastname: Calvo
authors.forename: Carlos
authors.initials: C
authors.lastname: Osuna
authors.forename: Beatriz
authors.initials: B
authors.lastname: Sánchez
authors.forename: Manuel
authors.initials: M
authors.lastname: Torres
mesh_terms: D002561:Cerebrovascular Disorders / Q000097:blood / Q000235:genetics*; D003541:Cystathionine beta-Synthase / Q000235:genetics*; D005260:Female; D006710:Homocysteine / Q000097:blood; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D011110:Polymorphism, Genetic; D012307:Risk Factors
chemical_list: D006710:Homocysteine; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D003541:Cystathionine beta-Synthase