Platelet membrane glycoprotein polymorphisms do not influence the clinical expressivity of von Willebrand disease type I

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dc.contributor.authorPereira, J
dc.contributor.authorQuiroga, T
dc.contributor.authorPereira, ME
dc.contributor.authorMorales, M
dc.contributor.authorGoycoolea, M
dc.contributor.authorHidalgo, P
dc.contributor.authorPrieto, C
dc.contributor.authorMezzano, D
dc.date.accessioned2024-01-10T13:52:11Z
dc.date.available2024-01-10T13:52:11Z
dc.date.issued2003
dc.description.abstractVon Willebrand disease (VWD) is characterized by a significant variation in bleeding symptoms among patients with similar laboratory profiles and equivalent plasma levels of von Willebrand factor (VWF) activities. Considering the recent suggestion that platelet membrane glycoprotein polymorphisms (PltGPs) may play a role as modulators of thromboembolic or haemorrhagic diseases, we investigated the role of different PltGPs and GPVI content in the clinical expression of patients with VWD type 1. The diagnosis of VWD (n = 76) was based on laboratory findings (VWF:Ag, VWF:RCo, VWF:CB, FVIII:C, and multimer analysis), family and personal history of bleeding. All patients were interviewed using a standardized questionnaire, and classified into two categories: bleeders (unequivocal bleeding tendency, n = 53) and non bleeders (absence of bleeding symptoms, n = 23). PltGPs, HPA-1, 2 and 5 and C807T of GPla were determined by fluorophore-labelled hybridization probes on a LightCycler(TM). GPVI content was measured by western blotting.
dc.description.abstractVWF:Ag,VWF:RCo,VWF:CB and FVIII:C levels were not significantly different between symptomatic and asymptomatic patients. There were no differences in the genotype distribution and allele frequencies between bleeders and non bleeders for the platelet alloantigen systems HPA-1, 2, 5 and the GPla C807T polymorphism. The levels of platelet GPVI were similar in symptomatic and asymptomatic VWD patients (109.6 +/- 58.4 vs 114.1 +/- 52.5, respectively; p: 0.77). These results show that PltGPs HPA-1, 2 and 5 or the C807T dimorphism of GPla do not influence the clinical expressivity of VWD type I. The wide variation in GPVI content was not associated with the severity of bleeding in the patients. Other genetic factors that may contribute to the variable expressivity of VWD type I should be investigated.
dc.fechaingreso.objetodigital2024-05-16
dc.format.extent6 páginas
dc.fuente.origenWOS
dc.identifier.doi10.1160/TH03-03-0135
dc.identifier.issn0340-6245
dc.identifier.pubmedidMEDLINE:14652648
dc.identifier.urihttps://doi.org/10.1160/TH03-03-0135
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/79649
dc.identifier.wosidWOS:000187422800026
dc.information.autorucMedicina;Mezzano D;S/I;99455
dc.information.autorucMedicina;Pereira J;S/I;99371
dc.information.autorucMedicina;Quiroga S;S/I;52601
dc.issue.numero6
dc.language.isoen
dc.nota.accesocontenido parcial
dc.pagina.final1140
dc.pagina.inicio1135
dc.publisherSCHATTAUER GMBH-VERLAG MEDIZIN NATURWISSENSCHAFTEN
dc.revistaTHROMBOSIS AND HAEMOSTASIS
dc.rightsacceso restringido
dc.subjectvon Willebrand disease
dc.subjectplatelet glycoproteins
dc.subjectpolymorphisms
dc.subjectbleeding diathesis
dc.subjectCORONARY-ARTERY-DISEASE
dc.subjectC807T GENE POLYMORPHISM
dc.subjectMYOCARDIAL-INFARCTION
dc.subjectALPHA(2) GENE
dc.subjectRISK-FACTOR
dc.subjectRECEPTOR DENSITY
dc.subjectYOUNGER PATIENTS
dc.subjectCOLLAGEN
dc.subjectVI
dc.subjectASSOCIATION
dc.subject.ods03 Good Health and Well-being
dc.subject.odspa03 Salud y bienestar
dc.titlePlatelet membrane glycoprotein polymorphisms do not influence the clinical expressivity of von Willebrand disease type I
dc.typeartículo
dc.volumen90
sipa.codpersvinculados99455
sipa.codpersvinculados99371
sipa.codpersvinculados52601
sipa.indexWOS
sipa.indexScopus
sipa.trazabilidadCarga SIPA;09-01-2024
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