Study of 18 functional hemostatic polymorphisms in mucocutaneous bleeding disorders

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dc.contributor.authorAnton, Ana I.
dc.contributor.authorGonzalez-Conejero, Rocio
dc.contributor.authorRoldan, Vanessa
dc.contributor.authorQuiroga, Teresa
dc.contributor.authorSanchez-Vega, Beatriz
dc.contributor.authorCorral, Javier
dc.contributor.authorVicente, Vicente
dc.contributor.authorMezzano, Diego
dc.date.accessioned2025-01-21T00:04:34Z
dc.date.available2025-01-21T00:04:34Z
dc.date.issued2010
dc.description.abstractHereditary disorders of primary hemostasis, characterized by mucocutaneous bleeding (MCB), are highly prevalent in children. Few cases are clearly monogenic, but the overwhelming majority are classified as mild bleeding disorders, with wide clinical and laboratory heterogeneity suggestive of complex polygenic diseases. In this framework, and by homology with venous thrombosis, some functional polymorphisms affecting the hemostatic system should be considered. We evaluated the role of 18 common hemostatic polymorphisms on the occurrence and severity of MCB in a case-control study including 269 patients and 286 matched controls consecutively recruited. FV Leiden was associated with milder bleeding severity, assessed by a standardized bleeding score (p=0.013). Multivariate analysis revealed that three additional polymorphisms protected against MCB (F13 Leu34, OR=0.66; 95% CI, 0.47-0.94; p=0.024; VKORC1 1173T, OR=0.59; 95% CI, 0.40-0.87; p=0.009; and non-O blood group alleles, OR=0.59; 95% CI, 0.41-0.86; p=0.006). When combined, these polymorphisms showed an additive protection (OR=0.24; 95% CI, 0.11-0.52), supporting the polygenic nature of MCB. Our data suggest that some common polymorphisms affecting hemostasis-related genes could protect from bleeding.
dc.fuente.origenWOS
dc.identifier.doi10.1007/s00277-010-1000-7
dc.identifier.eissn1432-0584
dc.identifier.issn0939-5555
dc.identifier.urihttps://doi.org/10.1007/s00277-010-1000-7
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/95512
dc.identifier.wosidWOS:000281896600011
dc.issue.numero11
dc.language.isoen
dc.pagina.final1154
dc.pagina.inicio1147
dc.revistaAnnals of hematology
dc.rightsacceso restringido
dc.subjectMucocutaneous bleeding
dc.subjectMild bleeding disorders
dc.subjectGene polymorphism
dc.subjectThrombosis
dc.subject.ods03 Good Health and Well-being
dc.subject.odspa03 Salud y bienestar
dc.titleStudy of 18 functional hemostatic polymorphisms in mucocutaneous bleeding disorders
dc.typeartículo
dc.volumen89
sipa.indexWOS
sipa.trazabilidadWOS;2025-01-12
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