title: The prevalence of the platelet glycoprotein VI polymorphisms in patients with sticky platelet syndrome and ischemic stroke.
abstract: BACKGROUND
  The aim of the study was to evaluate the genetic variability of the GP6 gene in patients with sticky platelet syndrome (SPS), a disorder characterized by platelet hyperaggregability, and thus to identify the genetic changes of the glycoprotein VI with possible  relation to the platelet hyperaggregability.
  
  
  METHODS
  Seventy-one patients with SPS, clinically manifested as ischemic stroke, and 77 controls without SPS and with negative personal history of thromboembolic events were involved. SPS was diagnosed by platelet  aggregometry (PACKS-4 aggregometer, Helena Laboratories) according to the method and criteria described by Mammen and Bick. Seven single-nucleotide polymorphisms (SNPs) of the GP6 gene (rs1654410, rs1671153, rs1654419, rs11669150, rs1613662, rs12610286, and rs1654431) were evaluated with the  use of restriction-fragment-length polymorphism analysis.
  
  
  RESULTS
  All allele and genotype frequencies were comparable between both SPS patients and the control group with no statistically significant differences. The haplotype analysis showed a higher occurrence of the  one major haplotype (TTGTGA, 0.228 vs. 0.174; odds ratio (OR) 1.421; confidence interval (CI) 0.799-2.526) and two minor haplotypes (CGATAA, 0,026 vs. 0,006; OR 4.117; CI 0.443-38.25; TTGTGG, 0.018 vs. 0.009; OR 2.107; CI 0.259-17.12) in patients with SPS. None of haplotype  differences was statistically significant. However, both the allele G of SNP rs12610286 (P = 0.029; OR 2.411; CI 1.134-5.123) and one major haplotype (TTGTGA; P = 0.012; OR 2.749; CI 1.223-6.174) were found significantly more frequent in patients  with SPS type I in comparison with controls.
  
  
  CONCLUSIONS
  Our results, especially higher occurrence of four haplotypes in SPS patients, can support an idea that variability of the GP6 gene may be associated with the platelet hyperaggregability in SPS.
authors.affiliation: Department of Hematology and Transfusion Medicine, National Center of Hemostasis and Thrombosis, Jessenius Faculty of Medicine, Comenius University, Martin, Slovakia. kubisz@jfmed.uniba.sk
authors.forename: Peter
authors.initials: P
authors.lastname: Kubisz
authors.forename: Jela
authors.initials: J
authors.lastname: Ivanková
authors.forename: Mária
authors.initials: M
authors.lastname: Škereňová
authors.forename: Ján
authors.initials: J
authors.lastname: Staško
authors.forename: Pavol
authors.initials: P
authors.lastname: Hollý
mesh_terms: D000328:Adult; D000483:Alleles; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D010980:Platelet Membrane Glycoproteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D015995:Prevalence; D020521:Stroke / Q000235:genetics*; D013577:Syndrome; D019851:Thrombophilia / Q000235:genetics*; D055815:Young Adult
chemical_list: D010980:Platelet Membrane Glycoproteins; C098341:platelet membrane glycoprotein VI