Influence of the F12-4 C > T polymorphism on hemostatic tests

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dc.contributor.authorCorral, Javier
dc.contributor.authorAnton, Ana I.
dc.contributor.authorQuiroga, Teresa
dc.contributor.authorGonzalez Conejero, Rocio
dc.contributor.authorPereira, Jaime
dc.contributor.authorRoldan, Vanessa
dc.contributor.authorVicente, Vicente
dc.contributor.authorMezzano, Diego
dc.date.accessioned2024-01-10T12:06:04Z
dc.date.available2024-01-10T12:06:04Z
dc.date.issued2010
dc.description.abstractThe common F12 - 4 C>T polymorphism significantly regulates plasma levels of FXII, the first element of the intrinsic pathway of coagulation. Due to the robust effects that this pathway has on blood coagulation in vitro, the objective of our study was to evaluate the influence of this polymorphism on different hemostatic tests. We studied 46 hemostatic parameters in 566 participants: 280 patients with mucocutaneous bleeding and 286 controls. The F12 - 4T allele, associated with reduced levels of FXII (P<0.001), also significantly delayed the activated partial thromboplastin time (aPTT) expressed as aPTTr (ratio sample plasma/normal pooled plasma). Thus, both patients and controls carrying the T allele had higher aPTTr than C/C homozygous individuals (P<0.001). Interestingly, 92% of healthy controls who had prolonged aPTTr carried the F12 - 4T allele. Moreover, individuals with the F12 - 4T allele also had less thrombin generation (assessed by endogenous thrombin potential, thrombin peak and time to achieve the peak of thrombin) using a test with low tissue factor concentration and explicit contact phase activation. Finally, both patients and controls carrying the F12 - 4T allele also displayed significantly lower FIXc and FVIIc levels than C/C individuals (P<0.01). For all associations except for FVIIc, a gene-dosage effect was observed, and homozygous TT individuals had the farthest values. Our study reveals a significant effect of the F12 - 4 C>T polymorphism on hemostatic tests widely used in routine clinical practice. Blood Coagul Fibrinolysis 21: 632-639 (c) 2010 Wolters Kluwer Health | Lippincott Williams & Wilkins.
dc.description.funderFundacion Seneca
dc.description.funderISCIII
dc.description.funderMinisterio de Asuntos Exteriores y de Cooperacion
dc.description.funderFONDECYT
dc.fechaingreso.objetodigital2024-05-22
dc.format.extent8 páginas
dc.fuente.origenWOS
dc.identifier.doi10.1097/MBC.0b013e32833a9048
dc.identifier.eissn1473-5733
dc.identifier.issn0957-5235
dc.identifier.pubmedidMEDLINE:20814302
dc.identifier.urihttps://doi.org/10.1097/MBC.0b013e32833a9048
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/76110
dc.identifier.wosidWOS:000282483500003
dc.information.autorucMedicina;Mezzano D ;S/I;99455
dc.information.autorucMedicina;Pereira J;S/I;99371
dc.information.autorucMedicina;Quiroga T ;S/I;52601
dc.issue.numero7
dc.language.isoen
dc.nota.accesocontenido parcial
dc.pagina.final639
dc.pagina.inicio632
dc.publisherLIPPINCOTT WILLIAMS & WILKINS
dc.revistaBLOOD COAGULATION & FIBRINOLYSIS
dc.rightsacceso restringido
dc.subjectFXII
dc.subjecthemostatic tests
dc.subjectpolymorphism
dc.subjectFACTOR-XII GENE
dc.subjectCORONARY-HEART-DISEASE
dc.subjectTHROMBIN GENERATION
dc.subjectCOAGULATION-FACTORS
dc.subjectFXII ACTIVITY
dc.subjectFACTOR-VII
dc.subjectPLASMA
dc.subjectDETERMINANTS
dc.subjectRISK
dc.subjectASSOCIATION
dc.subject.ods03 Good Health and Well-being
dc.subject.odspa03 Salud y bienestar
dc.titleInfluence of the F12-4 C > T polymorphism on hemostatic tests
dc.typeartículo
dc.volumen21
sipa.codpersvinculados99455
sipa.codpersvinculados99371
sipa.codpersvinculados52601
sipa.indexWOS
sipa.indexScopus
sipa.trazabilidadCarga SIPA;09-01-2024
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