title: Genetic variations of the GP6 regulatory region in patients with sticky platelet syndrome and miscarriage.
abstract: BACKGROUND
  Thrombophilia increases the risk of venous thrombosis during pregnancy and may predispose to gestational vascular complications.
  
  
  OBJECTIVE
  The aim of this study is to evaluate the variability of GP6 regulatory regions in a group of patients with platelet hyperaggregability manifested as miscarriage compared with control subjects.
  
  
  METHODS
  We examined 27 female patients with platelet hyperaggregability and history of spontaneous abortion and 42 healthy women. Platelet hyperaggregability was established by light transmission aggregometry. We also assessed eight SNPs within the GP6 gene.
  
  
  RESULTS
  We found a higher occurrence of three SNPs in patients with platelet hyperaggregability and history of miscarriage (rs1671152, rs1654433, rs1671215). The haplotype analysis showed a significant higher occurrence of two haplotypes (ACGG, CCGT).
  
  
  CONCLUSIONS
  Our results support the idea that genetic variability of GP6 regulatory regions can be associated with platelet hyperaggregability - a possible cause of miscarriage.
authors: a 1 Department of Hematology and Transfusiology, National Centre of Hemostasis and Thrombosis, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Kollarova 2, 036 59 Martin, Slovakia.
authors: Juraj
authors: J
authors: Sokol
authors: b 2 Department of Clinical Biochemistry, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Kollarova 2, 036 59 Martin, Slovakia.
authors: Maria
authors: M
authors: Skerenova
authors: c 3 Department of Gynecology and Obstetrics, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Kollarova 2, 036 59 Martin, Slovakia.
authors: Kamil
authors: K
authors: Biringer
authors: d 4 Department of Molecular Biology, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Kollarova 2, 036 59 Martin, Slovakia.
authors: Zora
authors: Z
authors: Lasabova
authors: a 1 Department of Hematology and Transfusiology, National Centre of Hemostasis and Thrombosis, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Kollarova 2, 036 59 Martin, Slovakia.
authors: Jan
authors: J
authors: Stasko
authors: a 1 Department of Hematology and Transfusiology, National Centre of Hemostasis and Thrombosis, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Kollarova 2, 036 59 Martin, Slovakia.
authors: Peter
authors: P
authors: Kubisz
mesh_terms: D000022:Abortion, Spontaneous / Q000209:etiology*; D000328:Adult; D001791:Blood Platelet Disorders / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D006801:Humans; D010974:Platelet Aggregation / Q000235:genetics*; D010980:Platelet Membrane Glycoproteins / Q000235:genetics*; D011247:Pregnancy
chemical_list: D010980:Platelet Membrane Glycoproteins; C098341:platelet membrane glycoprotein VI
keywords: GP6 gene; miscarriage; platelet hyperaggregability; single nucleotide polymorphism; sticky platelet syndrome