Corral J, González-Conejero R, Rivera J, Ortuño F, Aparicio P, Vicente V
Unit of Onco-Hematology and Hemotherapy, School of Medicine, Hospital General Universitario, Murcia, Spain.
Thromb Haemost. 1999 Jun;81(6):951-6.
The variability of the platelet GP Ia/IIa density has been associated with the 807 C/T polymorphism (Phe 224) of the GP Ia gene in American Caucasian population. We have investigated the genotype and allelic frequencies of this polymorphism in Spanish Caucasians. The T allele was found in 35% of the 284 blood donors analyzed. We confirmed in 159 healthy subjects a significant association between the 807 C/T polymorphism and the platelet GP Ia density. The T allele correlated with high number of GP Ia molecules on platelet surface. In addition, we observed a similar association of this polymorphism with the expression of this protein in other blood cell types. The platelet responsiveness to collagen was determined by "in vitro" analysis of the platelet activation and aggregation response. We found no significant differences in these functional platelet parameters according to the 807 C/T genotype. Finally, results from 3 case/control studies involving 302 consecutive patients (101 with coronary heart disease, 104 with cerebrovascular disease and 97 with deep venous thrombosis) determined that the 807 C/T polymorphism of the GP Ia gene does not represent a risk factor for arterial or venous thrombosis.
在美国白种人群体中，血小板糖蛋白Ia/IIa密度的变异性与糖蛋白Ia基因的807 C/T多态性（Phe 224）相关。我们研究了西班牙白种人中这种多态性的基因型和等位基因频率。在所分析的284名献血者中，35%发现有T等位基因。我们在159名健康受试者中证实，807 C/T多态性与血小板糖蛋白Ia密度之间存在显著关联。T等位基因与血小板表面大量的糖蛋白Ia分子相关。此外，我们观察到这种多态性与该蛋白在其他血细胞类型中的表达也有类似关联。通过对血小板活化和聚集反应的“体外”分析来测定血小板对胶原的反应性。根据807 C/T基因型，我们发现这些血小板功能参数没有显著差异。最后，3项病例/对照研究（涉及302例连续患者，其中101例患有冠心病，104例患有脑血管疾病，97例患有深静脉血栓形成）的结果表明，糖蛋白Ia基因的807 C/T多态性不代表动脉或静脉血栓形成的危险因素。
