biostudies-literaturePujol-Moix NMinisterio de Educación y CienciaE3221https://www.ebi.ac.uk/biostudies/studies/S-EPMC6651679biostudies-literatureUnknown20(13)(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 <i>ABO</i> locus. After adjusting both phenotypes for the <i>ABO</i> genoInternational journal of molecular sciencesInfluence of <i>ABO</i> 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.PMC6651679SAF 2005-04738Pujol-Moix NMartinez-Perez ASouto JCSoria JMVilalta NHamsten ASabater-Lleal MLlobet DfalseInfluence of <i>ABO</i> 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) 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 <i>ABO</i> locus. After adjusting both phenotypes for the <i>ABO</i> geno2019-01-01T00:00:00Z2019 Jun2026-05-07T05:14:19.35Z2019-08-12T07:02:55ZS-EPMC66516793126204010.3390/ijms20133221