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. 2024:134:230-238.

GENETIC DETERMINANTS OF THROMBOSIS

Charles J Lowenstein  1
Affiliations

GENETIC DETERMINANTS OF THROMBOSIS

Charles J Lowenstein. Trans Am Clin Climatol Assoc. 2024.

Abstract

Venous thromboembolism (VTE) is a major cause of morbidity and mortality in the United States. VTE is caused by genetic and acquired conditions, but the genetic variants that increase the risk of VTE are not fully characterized. Recent genome-wide association studies (GWAS) have discovered novel genetic loci linked to VTE. Some of these loci have been characterized, uncovering new pathways that regulate VTE. Functional characterization of candidate genes discovered by GWAS may reveal new therapeutic targets to treat and prevent abnormal thrombosis or bleeding.

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Figures

Fig. 1.
Fig. 1.
Gene Set Enrichment Analysis (GSEA) of 135 Genetic Variants Linked to Risk of VTE Grouped by Reactome Subset of Canonical Pathways. The genetic loci linked to the risk of VTE was analyzed by Gene Ontology for gene set enrichment.
Fig. 2.
Fig. 2.
SLC44A2 Regulates Platelet Metabolism and Thrombosis. SLC44A2 transports choline into mitochondria. Mitochondria use choline to produce ATP. Platelets release ATP which activates neighboring platelets, leading to aggregation and thrombosis.
See this image and copyright information in PMC

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