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Influence of ABO Locus on PFA-100 Collagen-ADP Closure Time Is Not Totally Dependent on the Von Willebrand Factor. Results of a GWAS on GAIT-2 Project Phenotypes

1
Thrombosis and Hemostasis Research Group, Institute of Biomedical Research (IIB-Sant Pau), 08025 Barcelona, Spain
2
Department of Medicine, Universitat Autònoma de Barcelona, 08025 Barcelona, Spain
3
Unit of Genomics of Complex Diseases, Institute of Biomedical Research (IIB-Sant Pau), 08025 Barcelona, Spain
4
Cardiovascular Medicine Unit, Department of Medicine, Center of Molecular Medicine, Karolinska Institutet, SE-17177 Stockholm, Sweden
5
Unit of Hemostasis and Thrombosis, Hospital de la Santa Creu i Sant Pau, 08025 Barcelona, Spain
*
Author to whom correspondence should be addressed.
Int. J. Mol. Sci. 2019, 20(13), 3221; https://doi.org/10.3390/ijms20133221
Received: 6 June 2019 / Revised: 24 June 2019 / Accepted: 27 June 2019 / Published: 30 June 2019
(This article belongs to the Section Molecular Pathology, Diagnostics, and Therapeutics)
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Abstract

(1) Background: In a previous study, we found that two phenotypes related to platelet reactivity, measured with the PFA-100 system, were highly heritable. The aim of the present study was to identify genetic determinants that influence the variability of these phenotypes: closure time of collagen-ADP (Col-ADP) and of collagen-epinephrine (Col-Epi). (2) Methods: As part of the GAIT-2 (Genetic Analysis of Idiopathic Thrombophilia (2) Project, 935 individuals from 35 large Spanish families were studied. A genome-wide association study (GWAS) with ≈ 10 M single nucleotide polymorphisms (SNPs) was carried out with Col-ADP and Col-Epi phenotypes. (3) Results: The study yielded significant genetic signals that mapped to the ABO locus. After adjusting both phenotypes for the ABO genotype, these signals disappeared. After adjusting for von Willebrand factor (VWF) or for coagulation factor VIII (FVIII), the significant signals disappeared totally for Col-Epi phenotype but only partially for Col-ADP phenotype. (4) Conclusion: Our results suggest that the ABO locus exerts the main genetic influence on PFA-100 phenotypes. However, while the effect of the ABO locus on Col-Epi phenotype is mediated through VWF and/or FVIII, the effect of the ABO locus on Col-ADP phenotype is partly produced through VWF and/or FVIII, and partly through other mechanisms. View Full-Text
Keywords: platelet reactivity; platelet function test; ABO blood-group system; von Willebrand factor; factor VIII platelet reactivity; platelet function test; ABO blood-group system; von Willebrand factor; factor VIII
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Pujol-Moix, N.; Martinez-Perez, A.; Sabater-Lleal, M.; Llobet, D.; Vilalta, N.; Hamsten, A.; Souto, J.C.; Soria, J.M. Influence of ABO Locus on PFA-100 Collagen-ADP Closure Time Is Not Totally Dependent on the Von Willebrand Factor. Results of a GWAS on GAIT-2 Project Phenotypes. Int. J. Mol. Sci. 2019, 20, 3221.

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