Platelet glycoprotein Ib alpha gene polymorphism and massive or submassive pulmonary embolism

Objective The -5T/C polymorphism in the Kozak sequence of glycoprotein Ib alpha, a component of the platelet glycoprotein Ib-IX-V receptor complex, is associated with an increase in this receptor density on the surface of the platelet. This study was designed to investigate the effect of platelet glycoprotein Ib alpha Kozak polymorphism on the clinical presentation of the patients with acute pulmonary embolism. Methods Forty-two patients with pulmonary embolism were genotyped for Kozak polymorphism of the glycoprotein Ib alpha by polymerase chain reaction/restriction fragment length polymorphism. Results Carriers of the -5T/C polymorphism of glycoprotein Ib alpha were significantly over-represented in the patient group with clinically massive or submassive pulmonary embolism (odds ratio 5.5, 95% confidence interval 1.4 to 22.2, P = 0.023). Also the association between this polymorphism and massive or submassive pulmonary embolism still existed even after being adjusted for conventional risk factors. Conclusion The -5T/C polymorphism in the Kozak sequence of glycoprotein Ib alpha may present as a risk factor for clinical manifestation of pulmonary embolism in which clot burden plays an important role.