title: Different models of inheritance in selected genes in patients with sticky platelet syndrome and fetal loss.
abstract: BACKGROUND
  The aim of this study was to evaluate the genetic variability of selected single nucleotide polymorphisms (SNPs) within GAS6 and PEAR1 genes and explore the association between selected SNPs and risk for fetal loss in women with sticky platelet syndrome (SPS).
  
  
  METHODS
  We examined 23 female patients with SPS and history of spontaneous abortion, and 42 healthy women who served as controls. The diagnosis of SPS was established by light transmission aggregometry according to methods and criteria developed by Mammen et al. We also assessed four SNPs within the GAS6 gene (rs7400002, rs1803628, rs8191974, rs9550270) and two SNPs within PEAR1 gene (rs12041331, rs12566888).
  
  
  RESULTS
  We identified two SNPs within PEAR1 gene (rs12041331, rs12566888) and one SNP within GAS6 gene (rs9550270) that have higher occurrence in SPS patients with history of abortion. An increased risk for abortion was observed in carriers of the rs7400002 within GAS6 gene. Conversely, we found that the T allele of PEAR1 c. -9-4663G > T polymorphism appears to be protective for fetal loss.
  
  
  CONCLUSIONS
  Our results support the idea that genetic variability of GAS6 and PEAR1 genes may be associated with platelet hyperaggregability. The study also suggests a possible polygenic type of SPS heredity.
authors.affiliation: Department of Haematology and Transfusiology, National Centre of Haemostasis and Thrombosis, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Martin, Slovakia.
authors.forename: Juraj
authors.initials: J
authors.lastname: Sokol
authors.affiliation: Department of Gynaecology and Obstetrics, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Martin, Slovakia.
authors.forename: Kamil
authors.initials: K
authors.lastname: Biringer
authors.affiliation: Department of Biochemistry, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Martin, Slovakia.
authors.forename: Maria
authors.initials: M
authors.lastname: Skerenova
authors.affiliation: Department of Haematology and Transfusiology, National Centre of Haemostasis and Thrombosis, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Martin, Slovakia.
authors.forename: Jan
authors.initials: J
authors.lastname: Stasko
authors.affiliation: Department of Haematology and Transfusiology, National Centre of Haemostasis and Thrombosis, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Martin, Slovakia.
authors.forename: Peter
authors.initials: P
authors.lastname: Kubisz
authors.affiliation: Department of Gynaecology and Obstetrics, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Martin, Slovakia.
authors.forename: Jan
authors.initials: J
authors.lastname: Danko
mesh_terms: D000022:Abortion, Spontaneous / Q000235:genetics*; D000328:Adult; D000483:Alleles; D001791:Blood Platelet Disorders / Q000097:blood* / Q000235:genetics*; D001792:Blood Platelets; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics*; D010974:Platelet Aggregation; D020641:Polymorphism, Single Nucleotide; D011956:Receptors, Cell Surface / Q000235:genetics*; D000099255:Growth Arrest-Specific Protein 6
chemical_list: D036341:Intercellular Signaling Peptides and Proteins; D011956:Receptors, Cell Surface; D000099255:Growth Arrest-Specific Protein 6; C502809:PEAR1 protein, human