Genetic linkage of Kozak sequence polymorphism of the platelet glycoprotein Ib alpha with human platelet antigen-2 and variable number of tandem repeats polymorphism, and its relationship with coronary artery disease

The -5 C/T polymorphism of platelet glycoprotein (GP) Ib alpha is a major d eterminant of the level of GP Ib/V/IX complex surface expression. We invest igated the frequency of this polymorphism among Asian populations. The gene frequencies of cytosine (C) in this polymorphism were 0.283 and 0.219 in J apanese and Korean populations respectively. The C allele is linked with hu man platelet antigen (HPA)-2a and smaller types of variable number of tande m repeats (VNTR). A novel allele, C-HPA-2a-D of VNTR, was found. No associa tion was observed between these alleles and coronary artery disease in this case-control study. The clinical relevance of this polymorphism in the thr ombotic status remains undetermined.