title: Evaluation of the PC-1 K121Q and G2906C variants as independent risk factors for ischaemic stroke.
abstract: Overexpression of plasma cell membrane glycoprotein-1 (PC-1) inhibits insulin receptor tyrosine kinase activity and thus favours insulin resistance and atherosclerotic vascular disease. Recent findings indicate that the minor variant K121Q in the PC-1 gene confers an increased risk for early myocardial infarction independent of other established risk factors. We hypothesized that genetic variants in PC-1 may also influence the risk for cerebrovascular disease.
  
  
  OBJECTIVE
  Therefore, we assessed the association of the PC-1 K121Q variant in the coding region and a polymorphism (G2906C) in the 3' untranslated region of the PC-1 gene with the risk of stroke.
  
  
  METHODS
  We analyzed 1014 patients with a history of ischaemic stroke from the Vienna stroke registry and 1001 control individuals without vascular disease.
  
  
  CONCLUSIONS
  Genotype frequencies of both genetic variants were similar in patients and controls in the total study population. By multivariate analysis, no interactions were observed between the PC-1 genotype and established vascular risk factors. However, the PC-1 2906C allele was significantly more frequent in patients who suffered from stroke before the age of 40 years. In these patients the risk for ischaemic stroke was increased four-fold.
authors.affiliation: Department of Laboratory Medicine, Medical University of Vienna, Austria.
authors.forename: M
authors.initials: M
authors.lastname: Rieger
authors.forename: G
authors.initials: G
authors.lastname: Endler
authors.forename: M
authors.initials: M
authors.lastname: Funk
authors.forename: W
authors.initials: W
authors.lastname: Lalouschek
authors.forename: W
authors.initials: W
authors.lastname: Lang
authors.forename: C
authors.initials: C
authors.lastname: Mannhalter
authors.forename: R
authors.initials: R
authors.lastname: Sunder-Plassmann
mesh_terms: D000328:Adult; D017677:Age Distribution; D000368:Aged; D001317:Austria; D005260:Female; D005819:Genetic Markers / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000453:epidemiology* / Q000235:genetics*; D014644:Genetic Variation / Q000235:genetics; D006801:Humans; D002546:Ischemic Attack, Transient / Q000453:epidemiology* / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010727:Phosphoric Diester Hydrolases / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D015995:Prevalence; D011755:Pyrophosphatases / Q000235:genetics*; D018570:Risk Assessment; D012307:Risk Factors
chemical_list: D005819:Genetic Markers; D010727:Phosphoric Diester Hydrolases; C065962:ectonucleotide pyrophosphatase phosphodiesterase 1; D011755:Pyrophosphatases