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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 02716naa a2200349 4500 | |
| 001 | oai:prod.swepub.kib.ki.se:141474165 | |
| 003 | SwePub | |
| 008 | 240701s2019 | |||||||||||000 ||eng| | |
| 024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1414741652 URI |
| 024 | 7 | a https://doi.org/10.3390/ijms201332212 DOI |
| 040 | a (SwePub)ki | |
| 041 | a engb eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Pujol-Moix, N4 aut |
| 245 | 1 0 | a 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 |
| 264 | c 2019-06-30 | |
| 264 | 1 | b MDPI AG,c 2019 |
| 520 | a (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. | |
| 700 | 1 | a Martinez-Perez, A4 aut |
| 700 | 1 | a Sabater-Lleal, Mu Karolinska Institutet4 aut |
| 700 | 1 | a Llobet, D4 aut |
| 700 | 1 | a Vilalta, N4 aut |
| 700 | 1 | a Hamsten, Au Karolinska Institutet4 aut |
| 700 | 1 | a Souto, JC4 aut |
| 700 | 1 | a Soria, JM4 aut |
| 710 | 2 | a Karolinska Institutet4 org |
| 773 | 0 | t International journal of molecular sciencesd : MDPI AGg 20:13q 20:13x 1422-0067 |
| 856 | 4 | u https://www.mdpi.com/1422-0067/20/13/3221/pdf |
| 856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:141474165 |
| 856 | 4 8 | u https://doi.org/10.3390/ijms20133221 |
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