Thesis (Ph.D.) - Cairo University - Faculty of Pharmacy - Department of Biochemistry

Hemostatic genes polymorphisms are well known to be associated with venous thrombosis, but their association with arterial thrombosis especially myocardial infarction (MI) remains to be clarified. The current study investigated the role of three hemostatic genes polymorphisms, prothrombin G20210A, factor XIII (FXIII) Val34Leu (G/T), and fibrinogen Ý- 455G/A and their coexistence in Egyptian patients with MI. The possible correlation of these polymorphisms with plasma fibrinogen level was also evaluated. The study included 120 patients with MI and 60 healthy volunteers. Gene polymorphisms were tested using multiplex polymerase chain reaction and reverse hybridization technique. Plasma fibrinogen level was determined by ELISA. The present study showed an increased risk of MI with fibrinogen Ý- 455G/A heterozygosity as well as FXIII Val34Leu homo and heterozygosity. In addition, the FXIII T allele (Leu34) and fibrinogen Ý-455A allele were significantly associated with MI. Conversely, the prevalence of prothrombin mutation did not differ between patients with MI and controls. Combined carriers of FXIII Leu34 and fibrinogen Ý-455A alleles were at higher risk of MI, whereas combined FXIII Val34Leu and prothrombin G20210A polymorphisms did not show increased risk for MI compared with controls. Plasma fibrinogen levels were significantly higher in patients with MI than controls. In MI patients, plasma fibrinogen levels were significantly higher in those with FXIII GT/TT or fibrinogen Ý-455G/A, while were significantly lower in those with prothrombin G20210A compared with patients with wild type genotypes

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