Abstract Number: PB1515
Meeting: ISTH 2020 Congress
Theme: Platelet Disorders and von Willebrand Disease » Platelet Function Disorders, Hereditary
Background: Platelet hyperaggregability after low concentrations of platelet agonists adenosine diphoshate (ADP) and/or epinephrine (EPI), referred to as sticky platelet syndrome (SPS), was first described by Holiday at the Ninth Conference on Stroke and Cerebral Circulation in Arizona in 1983. Since both genders are affected, SPS has a clear autosomal pattern of inheritance, although the exact genetic cause has not been identified yet.
Aims: The aim of this study was to evaluate the genetic variability of the selected single nucleotide polymorphisms (SNPs) and examine the association between these SNPs and risk for deep vein thrombosis (DVT) in patients with SPS.
Methods: All patients were enrolled into this study between March 2011 and September 2017. Platelet aggregability was tested with platelet-rich plasma using platelet aggregometry (PACKS-4 aggregometer, Helena Laboratories, USA). High-resolution melting (HRM) analysis on LightCycler 480 II (Roche Diagnostics, Mannheim, Germany) was used for SNP (single nucleotide polymorphism) genotyping.
Results: We examined 84 patients with SPS and history of DVT and 101 healthy subjects. We were interested in two SNPs within PEAR1 gene (rs12041331, rs12566888), two SNPs within MRVI1 gene (rs7940646, rs1874445), one SNP within JAK2 gene (rs2230722), one SNP within FCER1G gene (rs3557), one SNP within PPBP (rs442155), four SNPs within ADRA2A (rs1800545, rs4311994, rs11195419, rs553668), and one SNP within SHH gene (rs2363910). We identified two protective SNPs within PEAR1 gene and one risk SNP within ADRA2A gene (PEAR1: rs12041331; rs12566888; ADRA2A: rs1800545). A haplotype analysis of 4 SNPs within ADRA2A gene identified a risk haplotype aagc (p=0.003). Moreover, we identified one protective haplotype within PEAR1 gene (AT, p=0.004).
Conclusions: Our results support the idea that genetic variability of PEAR1 and ADRA2A genes is associated with platelet hyperaggregability manifested as VTE. The study also suggests a possible polygenic type of SPS heredity. The study was supported by grants VEGA 1/0187/17 and APVV-17-0054.
To cite this abstract in AMA style:
Lisá L, Sokol J, Ivanková J, Zolkova J, Vadelova L, Plamenova I, Stasko J. Association of Genetic Variability in Selected Genes in Patients with Deep Vein Thrombosis and Platelet Hyperaggregability [abstract]. Res Pract Thromb Haemost. 2020; 4 (Suppl 1). https://abstracts.isth.org/abstract/association-of-genetic-variability-in-selected-genes-in-patients-with-deep-vein-thrombosis-and-platelet-hyperaggregability/. Accessed March 21, 2024.« Back to ISTH 2020 Congress
ISTH Congress Abstracts - https://abstracts.isth.org/abstract/association-of-genetic-variability-in-selected-genes-in-patients-with-deep-vein-thrombosis-and-platelet-hyperaggregability/