Study of 18 functional hemostatic polymorphisms in mucocutaneous bleeding disorders.
Ann Hematol
; 89(11): 1147-54, 2010 Nov.
Article
em En
| MEDLINE
| ID: mdl-20532885
ABSTRACT
Hereditary 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.
Texto completo:
1
Bases de dados:
MEDLINE
Assunto principal:
Polimorfismo Genético
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Transtornos Hemorrágicos
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Hemostasia
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Mucosa
Tipo de estudo:
Observational_studies
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Risk_factors_studies
Limite:
Adolescent
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Adult
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Animals
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Child
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Child, preschool
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Female
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Humans
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Middle aged
Idioma:
En
Revista:
Ann Hematol
Assunto da revista:
HEMATOLOGIA
Ano de publicação:
2010
Tipo de documento:
Article
País de afiliação:
Espanha