Genotype-phenotype relationship for six common polymorphisms in genes affecting platelet function from 286 healthy subjects and 160 patients with mucocutaneous bleeding of unknown cause

Martínez C; Anton, AI; Corral, J; Quiroga T.; Panes O.; Lozano, ML; Gonzalez-Conejero, R; Teruel, R; Navarro-Nunez, L; Pereira J.; Mezzano D.; Vicente, V; Rivera J.

Abstract

Polymorphisms affecting platelet receptors and intracellular proteins have been extensively studied in relation to their potential influence in thrombosis and haemorrhages. However, few reports have addressed their impact on platelet function, with contradictory results. Limitations of these studies include, among others, small number of patients, the platelet functional parameters analyzed and their known variability in the healthy population. We studied the effect of six polymorphisms [ITGB3 1565T > C (HPA-1), GPIBA variable number tandem repeat and 524C > T (HPA-2), ITGA2 807C > T, ADRA2A 1780A > G, and TUBB1 Q43P] on platelet function in 286 healthy subjects and their potential pathogenetic role in 160 patients with hereditary mucocutaneous bleeding of unknown cause. We found no effect of any of these polymorphisms on platelet aggregation, secretion, PFA-100®, and thrombin generation in platelet rich plasma. Furthermore, patients and controls showed no significant differences in the frequency of any of these polymorphisms. Thus, our study demonstrated that polymorphisms in genes affecting platelet function do not influence significantly major platelet functions and appear irrelevant in the pathogenesis of bleeding disorders. © 2009 Blackwell Publishing Ltd.

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Título según WOS: Genotype-phenotype relationship for six common polymorphisms in genes affecting platelet function from 286 healthy subjects and 160 patients with mucocutaneous bleeding of unknown cause
Título según SCOPUS: Genotype-phenotype relationship for six common polymorphisms in genes affecting platelet function from 286 healthy subjects and 160 patients with mucocutaneous bleeding of unknown cause
Título de la Revista: BRITISH JOURNAL OF HAEMATOLOGY
Volumen: 146
Número: 1
Editorial: WILEY-BLACKWELL
Fecha de publicación: 2009
Página de inicio: 95
Página final: 103
Idioma: English
URL: http://doi.wiley.com/10.1111/j.1365-2141.2009.07713.x
DOI:

10.1111/j.1365-2141.2009.07713.x

Notas: ISI, SCOPUS