Integrated GWAS and Gene Expression Suggest ORM1 as a Potential Regulator of Plasma Levels of Cell-Free DNA and Thrombosis Risk.


Journal

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

Informations de publication

Date de publication:
Jun 2022
Historique:
pubmed: 11 3 2022
medline: 7 7 2022
entrez: 10 3 2022
Statut: ppublish

Résumé

Plasma cell-free DNA (cfDNA) is a surrogate marker of neutrophil extracellular traps (NETs) that contribute to immunothrombosis. There is growing interest about the mechanisms underlying NET formation and elevated cfDNA, but little is known about the factors involved. We aimed to identify genes involved in the regulation of cfDNA levels using data from the Genetic Analysis of Idiopathic Thrombophilia (GAIT-2) Project.Imputed genotypes, whole blood RNA-Seq data, and plasma cfDNA quantification were available for 935 of the GAIT-2 participants from 35 families with idiopathic thrombophilia. We performed heritability and GWAS analysis for cfDNA. The heritability of cfDNA was 0.26 (

Identifiants

pubmed: 35272364
doi: 10.1055/s-0041-1742169
pmc: PMC9251712
doi:

Substances chimiques

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

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

1027-1039

Subventions

Organisme : PI14/00582
ID : Instituto de Salud Carlos III and Fondo de Investigación Sanitaria (ISCIII-FIS)
Organisme : PI17/00059
ID : Instituto de Salud Carlos III and Fondo de Investigación Sanitaria (ISCIII-FIS)
Organisme : SGR 1736, J.M.S
ID : Grupo Consolidado Generalitat de Catalunya
Organisme : FI2017B_00673
ID : Agència de Gestió d'ajuts Universitaris i de Recerca
Organisme : CP17/00142
ID : Miguel Servet contract from the ISCIII

Informations de copyright

The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/).

Déclaration de conflit d'intérêts

None declared.

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Auteurs

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.

Alba Rodriguez-Rius (A)

Genomics of Complex Diseases Unit, Research Institute 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.

Laura Martin-Fernandez (L)

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

Noelia Vilalta (N)

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

Marc Arús (M)

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

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.

Maria Sabater-Lleal (M)

Genomics of Complex Diseases Unit, Research Institute Hospital de la Santa Creu i Sant Pau, IIB Sant Pau, Barcelona, Spain.
Cardiovascular Medicine Unit, Department of Medicine, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.

Juan Carlos Souto (JC)

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

Emmanouil T Dermitzakis (ET)

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

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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