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.

« Back to ISTH 2022 Congress

ISTH Congress Abstracts - https://abstracts.isth.org/abstract/association-of-genetic-variability-in-mrvi1gene-in-patients-with-arterial-thrombosis-and-platelet-hyperaggregability/