Polymorphism of GPIa, GPIb and GPIIIa platelet receptors genes in women with von Willebrand disease type I: 616.151.511

Abstract

Aim: to study polymorphisms frequency of GPIa, GPIb and GPIIIa platelet receptors genes in women with von Willebrand disease type I; to carry out clinical and laboratory comparison to reveal presence or absence of correlation relationship between the stu- died genetic polymorphisms and Willebrand factor and factor VIII deficiency expression.

Materials and methods. The study included 136 women aged from 18 to 45 years (mean — 31.7 ± 0.5 years) with diagnosed von Willebrand disease type I. The control group consisted of 111 healthy women aged from 18 to 45 years (mean — 30.0 ± 0.6 years). The study of von Willebrand factor antigen (vWF:Ag), ristocetin-cofactor activity of von Willebrand factor (vWF:RCo) and factor VIII activity (FVIII:C) was performed on Elite PRO automatic coagulometer (Instrumentation Laboratory, USA) using HemosIL reagents (Instrumentation Laboratory, USA). A molecular-genetic analysis of polymorphism of GPIIIa (1a/1b), GPIa (C807T) and GPIb (A1/A2) platelet receptor genes was performed by allele-specific polymerase chain reaction with detection of amplification products using polyacrylamide gel electrophoresis.

Results. Polymorphisms frequency of GPIIIa (1a/1b), GPIa (C807T) and GPIb (A1/A2) platelet receptors genes in patients with diag- nosed von Willebrand disease type I was not significantly different from that in healthy women. The exception was the genotype 1a-1b of platelet receptor gene GPIIIa, which frequency in patients with von Willebrand disease type I was higher compared with the frequency of this genotype in the control group (23.5 and 10.8%, respectively; p = 0.05).

Conclusion. The polymorphism of GPIIIa (1a/1b), GPIa (C807T) and GPIb (A1/A2) platelet receptors genes is equally widespread both in healthy persons and in women with von Willebrand disease. Further studies will show if higher frequency of 1a-1b geno- type of GPIIIa platelet receptor gene in patients with von Willebrand disease has any clinical significance.