title: The A677V methylenetetrahydrofolate reductase gene polymorphism and carotid atherosclerosis.
abstract: OBJECTIVE
  The alanine/valine (A/V) polymorphism at codon 677 of the 5,10 methylenetetrahydrofolate reductase (MTHFR) gene correlates with elevated levels of plasma homocysteine and with an increased risk of atherosclerotic cardiovascular disease. Our study was designed to assess the frequency of the A and V alleles in patients with asymptomatic severe carotid artery stenosis (CAS) assessed by extracranial duplex examination in comparison with age- and sex-matched subjects without carotid atherosclerosis.
  
  
  METHODS
  Consecutive patients (n=48; 28 men, mean+/-SD age 67.1+/-11. 4 years) with asymptomatic severe (>75%) CAS were compared with subjects without CAS (n=26; 15 men, aged 61.2+/-11.5). The MTHFR genotype was analyzed by polymerase chain reaction followed by HinfI digestion. The chi(2) analysis and t test were used to compare the groups.
  
  
  RESULTS
  The frequency of V alleles was significantly higher in the CAS group (0.47) compared with control subjects (0.27, chi(2) test; OR 2.4 [95% CI 1.1 to 5.3]; P<0.02).
  
  
  CONCLUSIONS
  Our results indicate that the MTHFR A677V allele is significantly associated with severe CAS.
authors.affiliation: Stroke Unit, Department of Neurology, Tel Aviv Sourasky Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
authors.forename: I
authors.initials: I
authors.lastname: Bova
authors.forename: J
authors.initials: J
authors.lastname: Chapman
authors.forename: C
authors.initials: C
authors.lastname: Sylantiev
authors.forename: A D
authors.initials: AD
authors.lastname: Korczyn
authors.forename: N M
authors.initials: NM
authors.lastname: Bornstein
mesh_terms: D000368:Aged; D000409:Alanine; D001161:Arteriosclerosis / Q000235:genetics*; D002340:Carotid Artery Diseases / Q000235:genetics*; D005260:Female; D005838:Genotype; D006710:Homocysteine / Q000097:blood; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000235:genetics*; D011110:Polymorphism, Genetic; D012307:Risk Factors; D014633:Valine
chemical_list: D006710:Homocysteine; D000587:Oxidoreductases Acting on CH-NH Group Donors; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D014633:Valine; D000409:Alanine