A follow-up study of a genome-wide association scan identifies a susceptibility locus for venous thrombosis on chromosome 6p24.1.
2 Universiteit Leiden = Leiden University
3 Celera Genomics
4 Génomique cardiovasculaire
5 Département d'Hématologie biologique [Saint-Eloi - CHU Montpellier]
6 CHUGA - Centre Hospitalier Universitaire [CHU Grenoble]
7 U872 Centre de Recherche des Cordeliers, Nutriomique, Équipe 7
8 UPD5 - Université Paris Descartes - Paris 5
9 CNG - Centre National de Génotypage
10 DMIP - Brest - Département de Médecine Interne et Pneumologie [Brest]
11 SCINBIOS - Sciences et ingénierie en biologie santé
12 JGU - Johannes Gutenberg - Universität Mainz = Johannes Gutenberg University
13 UKM - University Hospital Münster - Universitaetsklinikum Muenster [Germany]
14 U765 - Risque Thrombotique et Mécanismes de l'Hémostase
15 HEGP - Hôpital Européen Georges Pompidou [APHP]
- Fonction : Auteur
- PersonId : 908932
- Fonction : Auteur
- PersonId : 1367614
- ORCID : 0000-0001-6494-5984
- Fonction : Auteur
- PersonId : 756893
- ORCID : 0000-0003-1706-3107
- Fonction : Auteur
- PersonId : 765674
- ORCID : 0000-0003-0227-1245
- Fonction : Auteur
- PersonId : 766444
- ORCID : 0000-0001-5503-4150
- Fonction : Auteur
- PersonId : 12718
- IdHAL : marie-christine-alessi
- ORCID : 0000-0003-3927-5792
- IdRef : 068982240
Résumé
To identify genetic susceptibility factors conferring increased risk of venous thrombosis (VT), we conducted a multistage study, following results of a previously published GWAS that failed to detect loci for developing VT. Using a collection of 5862 cases with VT and 7112 healthy controls, we identified the HIVEP1 locus on chromosome 6p24.1 as a susceptibility locus for VT. Indeed, the HIVEP1 rs169713C allele was associated with an increased risk for VT, with an odds ratio of 1.20 (95% confidence interval 1.13-1.27, p = 2.86 x 10(-9)). HIVEP1 codes for a protein that participates in the transcriptional regulation of inflammatory target genes by binding specific DNA sequences in their promoter and enhancer regions. The current results provide the identification of a locus involved in VT susceptibility that lies outside the traditional coagulation/fibrinolysis pathway.