title: 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.
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.
authors.affiliation: University of Murcia, Centro Regional de Hemodonación, Murcia, Spain.
authors.forename: Constantino
authors.initials: C
authors.lastname: Martínez
authors.forename: Ana Isabel
authors.initials: AI
authors.lastname: Antón
authors.forename: Javier
authors.initials: J
authors.lastname: Corral
authors.forename: Teresa
authors.initials: T
authors.lastname: Quiroga
authors.forename: Olga
authors.initials: O
authors.lastname: Panes
authors.forename: María Luisa
authors.initials: ML
authors.lastname: Lozano
authors.forename: Rocío
authors.initials: R
authors.lastname: González-Conejero
authors.forename: Raúl
authors.initials: R
authors.lastname: Teruel
authors.forename: Leyre
authors.initials: L
authors.lastname: Navarro-Núñez
authors.forename: Jaime
authors.initials: J
authors.lastname: Pereira
authors.forename: Diego
authors.initials: D
authors.lastname: Mezzano
authors.forename: Vicente
authors.initials: V
authors.lastname: Vicente
authors.forename: José
authors.initials: J
authors.lastname: Rivera
mesh_terms: D000293:Adolescent; D000328:Adult; D016824:Antigens, Human Platelet / Q000235:genetics*; D001792:Blood Platelets / Q000502:physiology*; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006474:Hemorrhagic Disorders / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D010974:Platelet Aggregation; D010979:Platelet Function Tests; D011110:Polymorphism, Genetic; D012701:Serotonin / Q000378:metabolism; D018709:Statistics, Nonparametric; D013917:Thrombin / Q000096:biosynthesis; D055815:Young Adult
chemical_list: D016824:Antigens, Human Platelet; D012701:Serotonin; D013917:Thrombin