FVII promotor bölge polimorfizmlerinin aterosklerozlu hastalarda haplotip gruplandırılmasıyla tromboz oluşumunda rolünün araştırılması
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Date
2009
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Biyoteknoloji Enstitüsü
Abstract
Coagulation factor VII (FVII), a vitamin K-dependent zymogen of a serin protease, plays an important role in initiating thrombosis through the interaction with tissue factor at a site of blood vessel injury. Recent studies have provided evidence for association between common polymorphic markers in the FVII gene and plasma FVII levels. FVII plasma levels are influenced by enviromental and genetic factors. Several polymorphisms in the promoter associated with decrease or increase of FVII plasma levels have been previously identified. Some studies have reported altered plasma FVII levels in groups with manifest or risk of coronary arterial disease (CAD), whereas other did not. One of the genetic factor is the -323ins10bp polymorphism, known to be associated with low FVII levels and has suggest to protect agains CAD. This polymorphism is in complete allelic association with -401G/T polymorphism in Caucasians. The -402 G/A promoter polymorphism, that has been associated opposite effect, is clinically less well studied. Also the effect of the three FVII polymorphisms are ethnicity-dependent.In this study we aimed to find the effect of three FVII gene polymorphisms on the risk of CAD in Turkish population and investigate haplotypes.Three polymorphisms of the FVII gene were studied in 101 healthy control and 224 patient with coronary arterial disease. These polymorphisms of the FVII gene were studied using Polymerase Chain Reaction(PCR), SSCP and DNA sequencing technigues were used for the analysis.We detected a new Haplotype in a Turkish patient. The promoter polymorhisms, -323ins10bp, -401G/T, -402G/A, were not associated with a risk of an initial coronary event. -323ins10bp allel frequency was similar to North European, Italians, Etiopians and Indians. -401G/T allel frequency similar to Italians and Etiopians. -402G/A allel frequency was find similar to Italians and Etiopians.
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FVII promotor bölge, Aterosklerozlu hasta, Haplotip