Novel loci involved in platelet function and platelet count identified by a genome-wide study performed in children

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dc.contributor.authorGuerrero, Jose A.
dc.contributor.authorRivera, Jose
dc.contributor.authorQuiroga, Teresa
dc.contributor.authorMartinez Perez, Angel
dc.contributor.authorIsabel Anton, Ana
dc.contributor.authorMartinez, Constantino
dc.contributor.authorPanes, Olga
dc.contributor.authorVicente, Vicente
dc.contributor.authorMezzano, Diego
dc.contributor.authorSoria, Jose Manuel
dc.contributor.authorCorral, Javier
dc.date.accessioned2024-01-10T13:51:14Z
dc.date.available2024-01-10T13:51:14Z
dc.date.issued2011
dc.description.abstractBackground
dc.description.abstractGenome-wide association studies are currently identifying new loci with potential roles in thrombosis and hemostasis: these loci include novel polymorphisms associated with platelet function traits and count. However, no genome-wide study performed on children has been reported to date, in spite of the potential that these subjects have in genetic studies, when compared to adults, given the minimal degree of confounders, i.e., acquired and environmental factors, such as smoking, physical activity, diet, and drug or hormone intake, which are particularly important in platelet function.
dc.description.abstractDesign and Methods
dc.description.abstractTo identify new genetic variants involved in platelet reactivity and count, we performed a genome-wide association study on 75 children (8.5 +/- 1.8 years) using the Illumina Sentrix Human CNV370-Quad BeadChip containing 320,610 single nucleotide polymorphisms. Functional analyses included assessment of platelet aggregation and granule secretion triggered by different agonists (arachidonic acid, collagen, epinephrine, ADP), as well as platelet count. Associations were selected based on statistical significance and physiological relevance for a subsequent replication study in a similar sample of 286 children.
dc.description.abstractResults
dc.description.abstractWe confirmed previously established associations with plasma levels of factors XII, VII and VIII as well as associations with platelet responses to ADP. Additionally, we identified 82 associations with platelet reactivity and count with a P value less than 10(-5). From the associations selected for further replication, we validated two single nucleotide polymorphisms with mildly increased platelet reactivity (rs4366150 and rs1787566) on the LPAR1 and MYO5B genes, encoding lisophosphatidic acid receptor-1 and myosin VB, respectively; and rs1937970, located on the NRG3 gene coding neuroregulin-3, associated with platelet count.
dc.description.abstractConclusions
dc.description.abstractOur genome-wide association study performed in children, followed by a validation analysis, led us to the identification of new genes potentially relevant in platelet function and biogenesis.
dc.description.funderFondo de Investigaciones Sanitarias
dc.description.funderFEHH
dc.description.funderNovo Nordisk Pharma, S.A.
dc.description.funderFundacion Seneca
dc.description.funderMCYT FEDER
dc.description.funderISCIII FEDER
dc.description.funderFOONDECYT, Chile
dc.description.funderSara Borrell postdoctoral fellowship
dc.description.funderGeneralitat de Catalunya
dc.fechaingreso.objetodigital2024-05-23
dc.format.extent9 páginas
dc.fuente.origenWOS
dc.identifier.doi10.3324/haematol.2011.042077
dc.identifier.eissn1592-8721
dc.identifier.issn0390-6078
dc.identifier.pubmedidMEDLINE:21546496
dc.identifier.urihttps://doi.org/10.3324/haematol.2011.042077
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/79587
dc.identifier.wosidWOS:000295219500016
dc.information.autorucMedicina;Mezzano D ;S/I;99455
dc.information.autorucMedicina;Panes O ;S/I;90271
dc.issue.numero9
dc.language.isoen
dc.nota.accesocontenido parcial
dc.pagina.final1343
dc.pagina.inicio1335
dc.publisherFERRATA STORTI FOUNDATION
dc.revistaHAEMATOLOGICA-THE HEMATOLOGY JOURNAL
dc.rightsacceso restringido
dc.subjectgenome-wide associations
dc.subjectplatelet function
dc.subjectplatelet count
dc.subjectSNP
dc.subjectchildren
dc.subjectLYSOPHOSPHATIDIC ACID
dc.subjectFACTOR-VII
dc.subjectASSOCIATION
dc.subjectPROTEIN
dc.subjectSUSCEPTIBILITY
dc.subjectREVEALS
dc.subjectCOMMON
dc.subjectHEART
dc.subjectRISK
dc.subjectGENE
dc.subject.ods03 Good Health and Well-being
dc.subject.odspa03 Salud y bienestar
dc.titleNovel loci involved in platelet function and platelet count identified by a genome-wide study performed in children
dc.typeartículo
dc.volumen96
sipa.codpersvinculados99455
sipa.codpersvinculados90271
sipa.indexWOS
sipa.indexScopus
sipa.trazabilidadCarga SIPA;09-01-2024
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