Association of Protein Z intronic G79A Polymorphism with susceptibility to deep vein thrombosis in Egyptian patients with Behcet's disease: A preliminary report

Abstract

Behçet disease (BD) is a multi-systemic inflammatory disorder, which can affect all types of blood vessels. Thrombotic vasculopathy is one of the major causes complicating the clinical course of BD. This study aims to investigate potential associations between G79A polymorphisms of the protein Z (PZ) gene and venous thrombosis as well as other clinical manifestations in Egyptian patients with BD. Sixty patients who satisfied the International Study Group criteria for BD and sixty healthy age and sex- matched control subjects were genotyped for G79A polymorphisms of the PZ gene by restriction fragment length polymorphism PCR. Plasma levels of PZ were estimated using enzyme linked immunosorbent assay kit. Our preliminary data revealed that, compared to the GG genotype, the AA and AG PZ intron F genotypes were significantly associated with BD susceptibility and with reduced plasma PZ levels. The patients were then subgrouped according to Protein Z G79A genotypes to examine the G79A genotype frequencies according to the clinical characteristics, where there was a statistically significant association between AG and AA genotypes frequencies and deep venous thrombosis. In conclusion, our study nominates the minor A allele of the PZ G79A polymorphism as a discriminatory genetic marker for identification of BD patients at high risk for developing thrombotic events. However, large scaled studies are needed to verify these preliminary results.

Key words: Behcet's disease; Protein Z; Deep vein thrombosis; intron F G79A polymorphism.