Titre :

Association of ABO haplotypes with the risk of venous thrombosis: impact on disease risks estimation

Auteur(s) :

Goumidi, Louisa [Auteur]
Centre recherche en CardioVasculaire et Nutrition = Center for CardioVascular and Nutrition research [C2VN]
Thibord, Florian [Auteur]
Framingham Heart Study
National Heart, Lung, and Blood Institute [Bethesda] [NHLBI]
Bordeaux population health [BPH]
Wiggins, Kerri [Auteur]
University of Washington [Seattle]
Li-Gao, Ruifang [Auteur]
Leiden University Medical Center [LUMC]
Brown, Michael [Auteur]
The University of Texas Health Science Center at Houston [UTHealth]
van Hylckama Vlieg, Astrid [Auteur]
Leiden University Medical Center [LUMC]
Souto, Juan Carlos [Auteur]
Hospital de la Santa Creu i Sant Pau
Soria, Jose Manuel [Auteur]
Hospital de la Santa Creu i Sant Pau
Ibrahim-Kosta, Manal [Auteur]
Hôpital de la Timone [CHU - APHM] [TIMONE]
Centre recherche en CardioVasculaire et Nutrition = Center for CardioVascular and Nutrition research [C2VN]
Saut, Noémie [Auteur]
Hôpital de la Timone [CHU - APHM] [TIMONE]
Centre recherche en CardioVasculaire et Nutrition = Center for CardioVascular and Nutrition research [C2VN]
Daian-Bacq, Delphine [Auteur]
Centre National de Recherche en Génomique Humaine [CNRGH]
Olaso, Robert [Auteur]
Centre National de Recherche en Génomique Humaine [CNRGH]
Amouyel, Philippe [Auteur]
Centre Hospitalier Régional Universitaire [CHU Lille] [CHRU Lille]
Excellence Laboratory LabEx DISTALZ
Facteurs de Risque et Déterminants Moléculaires des Maladies liées au Vieillissement - U 1167 [RID-AGE]
Debette, Stephanie [Auteur]
Centre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
Bordeaux population health [BPH]
Boland, Anne [Auteur]
Centre National de Recherche en Génomique Humaine [CNRGH]
Bailly, Pascal [Auteur]
Etablissement Français du Sang Provence-Alpes Côte-d'Azur et Corse [EFS]
Anthropologie bio-culturelle, Droit, Ethique et Santé [ADES]
Morrison, Alanna [Auteur]
The University of Texas Health Science Center at Houston [UTHealth]
Mook-Kanamori, Dennis [Auteur]
Leiden University Medical Center [LUMC]
Deleuze, Jean-François [Auteur]
Fondation Jean Dausset CEPH
Centre National de Recherche en Génomique Humaine [CNRGH]
Johnson, Andrew [Auteur]
Framingham Heart Study
National Heart, Lung, and Blood Institute [Bethesda] [NHLBI]
de Vries, Paul [Auteur]
The University of Texas Health Science Center at Houston [UTHealth]
Sabater-Lleal, Maria [Auteur]
Karolinska Institutet [Stockholm]
Hospital de la Santa Creu i Sant Pau
Chiaroni, Jacques [Auteur]
Etablissement Français du Sang Provence-Alpes Côte-d'Azur et Corse [EFS]
Anthropologie bio-culturelle, Droit, Ethique et Santé [ADES]
Smith, Nicholas [Auteur]
Seattle Epidemiologic Research and Information Center [Seattle]
Kaiser Permanente Washington Health Research Institute [Seattle] [KPWHRI]
University of Washington [Seattle]
Rosendaal, Frits [Auteur]
Leiden University Medical Center [LUMC]
Chasman, Daniel [Auteur]
Harvard Medical School [Boston] [HMS]
Brigham and Women's Hospital [Boston]
Tregouet, David-Alexandre [Auteur]
Bordeaux population health [BPH]
Morange, Pierre-Emmanuel [Auteur]
Hôpital de la Timone [CHU - APHM] [TIMONE]
Centre recherche en CardioVasculaire et Nutrition = Center for CardioVascular and Nutrition research [C2VN]

Titre de la revue :

Blood

Pagination :

2394-2402

Éditeur :

American Society of Hematology

Date de publication :

2021

ISSN :

0006-4971

Discipline(s) HAL :

Sciences du Vivant [q-bio]

Résumé en anglais : [en]

Genetic risk score (GRS) analysis is an increasingly popular approach to derive individual risk prediction models for complex diseases. In the context of venous thrombosis (VT), any GRS shall integrate information at the ...
Lire la suite >Genetic risk score (GRS) analysis is an increasingly popular approach to derive individual risk prediction models for complex diseases. In the context of venous thrombosis (VT), any GRS shall integrate information at the ABO blood group locus, the latter being one of the major susceptibility locus for this disease. However, there is yet no consensus about which single nucleotide polymorphisms (SNPs) must be investigated when one is interested in properly assessing the association of ABO locus with VT risk. Using comprehensive haplotype analyses of ABO blood group tagging SNPs in up to 5,425 cases and 8,445 controls from 6 studies, we demonstrated that using only rs8176719 (tagging O1) to correctly assess the impact of ABO locus on VT risk is suboptimal as 5% of rs8176719-delG carriers are not exposed at higher VT risk. Instead, we recommend to use 4 SNPs, rs2519093 (tagging A1), rs1053878 (A2), rs8176743 (B) and rs41302905 (O2) in any analysis aimed at assessing the impact of ABO locus on VT risk to avoid any risk misestimation. Compared to O1 haplotype that can be inferred from these 4 SNPs, the A2 haplotype is associated with a modest increase in VT risk (odds ratio ~1.2), A1 and B haplotypes are associated with a ~1.8 fold increased risk while O2 tend to be slightly protective (odds ratio ~0.80). In addition, our analyses clearly showed that while the A1 an B blood group are associated with increased vWF and FVIII plasma levels only the A1 blood group is associated wih ICAM plasma levels but in an opposite direction, leaving additional avenues to be explored in order to fully understand the whole spectrum of biological effect of ABO locus on cardiovascular traits.Lire moins >

Langue :

Anglais

Comité de lecture :

Oui

Audience :

Internationale

Vulgarisation :

Non

Projet ANR :

Medical Genomics

Collections :

• Facteurs de risque et déterminants moléculaires des maladies liées au vieillissement (RID-AGE) - U1167

Source :

Harvested from HAL