{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Pujol-Moix N"],"funding":["Ministerio de Educación y Ciencia"],"pagination":["E3221"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC6651679"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["20(13)"],"pubmed_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 <i>ABO</i> locus. After adjusting both phenotypes for the <i>ABO</i> geno"],"journal":["International journal of molecular sciences"],"pubmed_title":["Influence 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."],"pmcid":["PMC6651679"],"funding_grant_id":["SAF 2005-04738"],"pubmed_authors":["Pujol-Moix N","Martinez-Perez A","Souto JC","Soria JM","Vilalta N","Hamsten A","Sabater-Lleal M","Llobet D"],"additional_accession":[]},"is_claimable":false,"name":"Influence 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.","description":"(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> geno","dates":{"release":"2019-01-01T00:00:00Z","publication":"2019 Jun","modification":"2026-05-07T05:14:19.35Z","creation":"2019-08-12T07:02:55Z"},"accession":"S-EPMC6651679","cross_references":{"pubmed":["31262040"],"doi":["10.3390/ijms20133221"]}}