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Purpose: Vasculitis is one of the major findings of Behçet's disease (BD). Protein Z (PZ) is a glycoprotein that acts as a cofactor of PZ-dependent protease inhibitor and suppresses trombus formation by inhibiting activated factor Xa. Polymorphism of the PZ gene was mentioned as a genetic risk factor for various thrombotic events. The aim of this study is to investigate the intron F G79A polymorphism of the PZ gene in Behçet patients with and without ocular involvement.
Methods: Seventy-six patients and 70 controls were included in the study. Intron F G79A polymorphism of PZ gene was determined by polymerase chain reaction based DNA analysis. The frequency of A allele and the distribution of genotypes were assessed by χ(2) test and the genotype distribution and Hardy-Weinberg equilibrium were tested with the χ(2) test for quality of fit.
Results: The frequency of the A allele was significantly higher in overall Behçet patients than in controls (odds ratio [OR] = 6.8; 95% CI, 2.6 to 17.9; p = 0.0001). It was also significantly higher in patients with (OR = 5.3; 95% CI, 1.83 to 15.6; p = 0.0024) or without (OR = 8.2; 95% CI, 2.95 to 22.5; p = 0.0001) ocular involvement compared to controls. However, A allele frequency was not significantly different between patients with eye involvement versus patients without eye involvement (OR = 0.65; 95% CI, 0.3 to 1.4; p = 0.28).
Conclusions: Although thrombosis in BD is multifactorial, intron F G79A polymorphism of PZ gene in BD may be one of the factors that contribute to this pathological process.
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http://dx.doi.org/10.3109/02713683.2012.669004 | DOI Listing |
Ann Hematol
August 2012
Department of Pediatrics, Salmaniya Medical Complex, Manama, Bahrain.
We investigated the association of protein Z (PZ) promoter (rs3024718, rs3024719, and rs3024731) and intron (rs3024735; G79A) SNPs with sickle cell disease (SCD) vaso-occlusive crisis (VOC). Study subjects included 239 SCD patients with VOC and 138 pain-free SCD control patients. PZ genotyping was done by allelic discrimination (real-time PCR) assays.
View Article and Find Full Text PDFCurr Eye Res
July 2012
Department of Ophthalmology, Gaziosmanpasa University, Tokat, Turkey.
Purpose: Vasculitis is one of the major findings of Behçet's disease (BD). Protein Z (PZ) is a glycoprotein that acts as a cofactor of PZ-dependent protease inhibitor and suppresses trombus formation by inhibiting activated factor Xa. Polymorphism of the PZ gene was mentioned as a genetic risk factor for various thrombotic events.
View Article and Find Full Text PDFJ Investig Med
April 2011
Department of Clinical Pathology, Kasr El-Aini, Cairo University, Manial EL-Rouda, Egypt.
Purpose: To investigate the relationship between recurrent pregnancy loss and single nucleotide polymorphisms in the protein Z (PZ) intron F G79A and the promoter region of the IL6 C634G genes in Egyptian women.
Procedures: Single nucleotide polymorphisms in the PZ intron F G79A gene and the promoter region of the IL6 C634G gene were studied in 70 Egyptian women; 40 patients and 30 healthy and parous volunteers using the polymerase chain reaction-restriction fragment length polymorphism technique.
Results: Regarding the PZ intron F G79A polymorphism; a higher prevalence of the A allele in the controls (53.
Clin Exp Rheumatol
January 2010
Unità di Reumatologia, Arcispedale S. Maria Nuova, Reggio Emilia, Italy.
Objective: To investigate potential associations between A-13G and G79A polymorphisms of the protein Z gene and venous thrombosis and other clinical manifestations in Italian patients with Behçet's disease (BD).
Methods: 176 Italian patients who satisfied the International Study Group criteria for BD and 134 healthy age- and sex- matched blood donors were genotyped for A-13G and G79A polymorphisms of the protein Z gene by molecular methods. 113 and 112 of the 176 BD patients were also genotyped for factor V Leiden and prothrombin gene G20210A polymorphisms.
Clin Appl Thromb Hemost
June 2010
Department of Pediatric Hematology, Ufuk University, Faculty of Medicine, Ankara, Turkey.
The aim of the study is to investigate whether the presence of a protein Z polymorphism is a risk factor for the development and outcome of sepsis. Sepsis is a clinical syndrome characterized by the presence of systemic signs and symptoms of inflammation. When sepsis leads to organ failure, the term severe sepsis and septic shock is used.
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