PB1233 - Association of Genetic Variability in MRVI1Gene in Patients With Arterial Thrombosis and Platelet Hyperaggregability

Tuesday, July 12, 2022

6:30 PM – 7:30 PM

Location: Exhibition

Presentation Format: In-Person

Presenting Author(s)

Monika Brunclikova, MD

physician
National Centre of Hemostasis and Thrombosis, Department of Hematology and Transfusiology, Comenius University in Bratislava, Jessenius Faculty of Medicine in Martin and University Hospital in Martin, Slovakia
Martin, Zilina, Slovakia

Co-Author(s)

JI

Jela Ivanková

laboratory researcher
National Center of Hemostasis and Thrombosis, Department of Hematology and Transfusion Medicine, Comenius University in Bratislava, Jessenius Faculty of Medicine in Martin and University Hospital in Martin, Martin, Slovakia
Martin, Zilina, Slovakia
MS

Maria Skerenova

Head of biochemistry
Comenius University, The Jessenius Faculty of Medicine in Martin
Martin, Zilina, Slovakia
Tomas Simurda, MD, PhD.

physician
National Centre of Hemostasis and Thrombosis, Department of Hematology and Transfusiology, Comenius University in Bratislava, Jessenius Faculty of Medicine in Martin and University Hospital in Martin, Slovakia
Martin, Zilina, Slovakia
MD

Miroslava Dobrotová

physician-hematologist
National Center of Hemostasis and Thrombosis, Department of Hematology and Transfusion Medicine, Comenius University in Bratislava, Jessenius Faculty of Medicine in Martin and University Hospital in Martin, Martin, Slovakia
Martin, Zilina, Slovakia
PH

Pavol Holly

physician-hematologist
National Center of Hemostasis and Thrombosis, Department of Hematology and Transfusion Medicine, Comenius University in Bratislava, Jessenius Faculty of Medicine in Martin and University Hospital in Martin, Martin, Slovakia
Martin, Zilina, Slovakia
LS

Lucia Stanciakova

Doctor
Comenius University, The Jessenius Faculty of Medicine in Martin
Martin, Zilina, Slovakia
Miroslava Drotarova, MD

PhD. student
National Centre of Hemostasis and Thrombosis, Department of Hematology and Transfusiology, Comenius University in Bratislava, Jessenius Faculty of Medicine in Martin and University Hospital in Martin, Slovakia
Martin, Zilina, Slovakia
IS

Ingrid Skornova

Laboratory diagnostician
National Center of Hemostasis and Thrombosis, Department of Hematology and Transfusion Medicine, Comenius University in Bratislava, Jessenius Faculty of Medicine in Martin and University Hospital in Martin, Martin, Slovakia
Martin, Zilina, Slovakia
PK

Peter Kubisz

university professor
National Center of Hemostasis and Thrombosis, Department of Hematology and Transfusion Medicine, Comenius University in Bratislava, Jessenius Faculty of Medicine in Martin and University Hospital in Martin, Martin, Slovakia
Martin, Zilina, Slovakia
JS

Jan Stasko

university professor
National Center of Hemostasis and Thrombosis, Department of Hematology and Transfusion Medicine, Comenius University in Bratislava, Jessenius Faculty of Medicine in Martin and University Hospital in Martin, Martin, Slovakia
Martin, Zilina, Slovakia

Background: The thrombotic thrombocytopathy - Sticky Platelet Syndrome (SPS) can predispose to thrombotic occlusions, especially in the arterial system. SPS has a clear autosomal pattern of inheritance, although the exact genetic cause has not been identified yet. Murine retrovirus integration site 1 homolog (MRVI1), has prior evidence of functions in platelet aggregation. In mice, MRVI1 plays a direct role in the inhibition of platelet aggregation and in vivo thrombosis.

Aims: The aim of this study was to evaluate the genetic variability of the selected single nucleotide polymorphisms (SNPs) in the MRVI1 gene in patients with SPS who developed occlusions in arterial system and examine the association between these SNPs and risk for development of arterial thrombosis in these patients.

Methods: We examined 50 patients with SPS and arterial thrombosis in various sites. The target population of our analysis consisted of patients, who developed arterial thrombotic occlusion at younger age (up to 40 years) than the general population, which draws the attention rather to genetic than to acquired risk factors. The control group consisted of 50 healthy blood donors. In all subjects we performed genetic testing of SNPs within MRVI1 gene.

Results: We assume that SPS has probably a polygenic mode of inheritance. Detailed results will be published in poster.

Conclusion(s): The platelet hyperaggregability can be a serious risk factor for the development of thrombotic events. Accurate determination of genetic changes in SPS and their relationship to the clinical phenotype can help physicians better understand the etiopathogenesis of the defect and help predict the clinical manifestation of the syndrome.