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Multiallelic Copy Number Variation in ORM1 is Associated with Plasma Cell-Free DNA Levels as an Intermediate Phenotype for Venous Thromboembolism.

Thrombosis and haemostasis - 1 Apr 2023

Martin-Fernandez Laura, Garcia-Martínez Iris, Lopez Sonia, Martinez-Perez Angel, Vilalta Noelia, Plaza Melania, Moret Carla, Viñuela Ana, Brown Andrew A, Panousis Nikolaos I, Buil Alfonso, Dermitzakis Emmanouil T, Corrales Irene, Souto Juan Carlos, Vidal Francisco, Soria Jose Manuel

Abstract excerpt

Venous thromboembolism (VTE) is a common disease with high heritability. However, only a small portion of the genetic variance of VTE can be explained by known genetic risk factors. Neutrophil extracellular traps (NETs) have been associated with prothrombotic activity. Therefore, the genetic basis of NETs could reveal novel risk factors for VTE. A recent genome-wide association study of plasma cell-free DNA...

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PMID: 36696913
DOI: 10.1055/s-0043-1760844

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