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


Journal

Thrombosis and haemostasis
ISSN: 2567-689X
Titre abrégé: Thromb Haemost
Pays: Germany
ID NLM: 7608063

Informations de publication

Date de publication:
Apr 2023
Historique:
medline: 31 3 2023
pubmed: 26 1 2023
entrez: 25 1 2023
Statut: ppublish

Résumé

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 (cfDNA) levels in the Genetic Analysis of Idiopathic Thrombophilia 2 (GAIT-2) Project showed a significant associated locus near

Identifiants

pubmed: 36696913
doi: 10.1055/s-0043-1760844
doi:

Substances chimiques

ORM1 protein, human 0
Orosomucoid 0
Cell-Free Nucleic Acids 0

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

438-452

Informations de copyright

Thieme. All rights reserved.

Déclaration de conflit d'intérêts

E.T.D. is currently an employee of GSK. The work presented in this manuscript was performed before he joined GSK.

Auteurs

Laura Martin-Fernandez (L)

Genomics of Complex Diseases Unit, Research Institute Hospital de la Santa Creu i Sant Pau, IIB-Sant Pau, Barcelona, Spain.
Congenital Coagulopathies Laboratory, Blood and Tissue Bank, Barcelona, Spain.
Fundación Española de Trombosis y Hemostasia (FETH), Madrid, Spain.
Transfusional Medicine, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona (VHIR-UAB), Barcelona, Spain.

Iris Garcia-Martínez (I)

Congenital Coagulopathies Laboratory, Blood and Tissue Bank, Barcelona, Spain.
Transfusional Medicine, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona (VHIR-UAB), Barcelona, Spain.

Sonia Lopez (S)

Genomics of Complex Diseases Unit, Research Institute Hospital de la Santa Creu i Sant Pau, IIB-Sant Pau, Barcelona, Spain.

Angel Martinez-Perez (A)

Genomics of Complex Diseases Unit, Research Institute Hospital de la Santa Creu i Sant Pau, IIB-Sant Pau, Barcelona, Spain.

Noelia Vilalta (N)

Hemostasis and Thrombosis Unit, Department of Hematology, Hospital de la Santa Creu i Sant Pau, IIB-Sant Pau, Barcelona, Spain.

Melania Plaza (M)

Hemostasis and Thrombosis Unit, Department of Hematology, Hospital de la Santa Creu i Sant Pau, IIB-Sant Pau, Barcelona, Spain.

Carla Moret (C)

Hemostasis and Thrombosis Unit, Department of Hematology, Hospital de la Santa Creu i Sant Pau, IIB-Sant Pau, Barcelona, Spain.

Ana Viñuela (A)

Biosciences Institute, Faculty of Medicine, Newcastle University, Newcastle Upon Tyne, United Kingdom.

Andrew A Brown (AA)

Population Health and Genomics, University of Dundee, Dundee, Scotland, United Kingdom.

Nikolaos I Panousis (NI)

Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, South Cambridgeshire, United Kingdom.
Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland.

Alfonso Buil (A)

Institute of Biological Psychiatry, Mental Health Sct. Hans Hospital, Roskilde, Denmark.

Emmanouil T Dermitzakis (ET)

Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland.

Irene Corrales (I)

Congenital Coagulopathies Laboratory, Blood and Tissue Bank, Barcelona, Spain.
Transfusional Medicine, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona (VHIR-UAB), Barcelona, Spain.
Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), Instituto Carlos III (ISCIII), Madrid, Spain.

Juan Carlos Souto (JC)

Hemostasis and Thrombosis Unit, Department of Hematology, Hospital de la Santa Creu i Sant Pau, IIB-Sant Pau, Barcelona, Spain.

Francisco Vidal (F)

Congenital Coagulopathies Laboratory, Blood and Tissue Bank, Barcelona, Spain.
Transfusional Medicine, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona (VHIR-UAB), Barcelona, Spain.
Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), Instituto Carlos III (ISCIII), Madrid, Spain.

Jose Manuel Soria (JM)

Genomics of Complex Diseases Unit, Research Institute Hospital de la Santa Creu i Sant Pau, IIB-Sant Pau, Barcelona, Spain.

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Classifications MeSH