Vienna Stroke Registry. Impact of the platelet glycoprotein Ib alpha Kozak polymorphism on the risk of ischemic cerebrovascular events: a case-control study

Blood Coagul Fibrinolysis. 2004 Sep;15(6):469-73. doi: 10.1097/00001721-200408000-00005.

Abstract

We performed a multicenter case-control study to evaluate the impact of the glycoprotein 1b alpha (-5)T/C Kozak polymorphism on the risk of ischemic cerebrovascular events. The genetic analysis in 1399 patients (745 men; median age, 70 years; interquartile ratio, 58-78) and 1066 control subjects (549 men; median age, 47 years; interquartile ratio, 39-59) was carried out with mutagenically separated polymerase chain reaction. Homozygous C/C genotype carriers had a 3.5-fold increased risk for ischemic cerebrovascular events (95% confidence interval, 1.5-7.9, P = 0.003) over T/T or T/C genotype carriers together. The effect was independent of well-established atherosclerotic risk factors. Our findings could be explained by the reported gene dose effect of the Kozak polymorphism on the density of the glycoprotein 1b alpha/IX/V receptors on platelets. According to our data, the (-5)C Kozak allele may represent a candidate genetic susceptibility factor for ischemic cerebrovascular events.

Publication types

  • Multicenter Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Alleles
  • Austria / epidemiology
  • Brain Ischemia / epidemiology*
  • Brain Ischemia / genetics
  • Case-Control Studies
  • Comorbidity
  • Female
  • Gene Dosage
  • Genetic Predisposition to Disease
  • Genotype
  • Homozygote
  • Humans
  • Male
  • Membrane Glycoproteins
  • Membrane Proteins / chemistry
  • Membrane Proteins / genetics*
  • Middle Aged
  • Platelet Glycoprotein GPIb-IX Complex
  • Risk
  • Risk Factors
  • Thrombophilia / genetics

Substances

  • Membrane Glycoproteins
  • Membrane Proteins
  • Platelet Glycoprotein GPIb-IX Complex
  • adhesion receptor