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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
Author(s) -
Martínez Constantino,
Antón Ana Isabel,
Corral Javier,
Quiroga Teresa,
Panes Olga,
Lozano María Luisa,
GonzálezConejero Rocío,
Teruel Raúl,
NavarroNúñez Leyre,
Pereira Jaime,
Mezzano Diego,
Vicente Vicente,
Rivera José
Publication year - 2009
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.2009.07713.x
Subject(s) - platelet , mucocutaneous zone , genotype , medicine , pathogenesis , phenotype , immunology , thrombosis , platelet membrane glycoprotein , gastroenterology , gene , biology , genetics , disease
Summary 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.