Determination of polymorphisms of CYP2C9 and VKORC1 genes in healthy and thrombotic individuals of the Abkhazian population

Author: Magda Luashvili
Keywords: CYP2C9 and VKORC1 genes, polimorphism, varfarin, thrombosis
Annotation:

Warfarin, as the most effective oral anticoagulant, is widely used for the prevention and treatment of venous thrombosis. Considerable interindividual variability in warfarin dose requirements has been shown, depending on genetic and environmental factors. Although warfarin has been used for treatment for more than 50 years, its main side effect – bleeding – is the leading cause of hospitalization and drug-related death. The required dose of warfarin can vary from individual to individual, with clinical and demographic factors such as age, body weight, co-morbidities, drug and dietary influences. Current population-based studies have identified differences in drug sensitivity among different ethnic groups and races. Two major genes, CYP2C9 and VKORC1, have been identified that influence the determination of initial and treatment doses of warfarin. The aim of our work was to determine the frequency of CYP2C9 and VKORC1 gene polymorphisms - CYP2C9*1, CYP2C9*2, CYP2C9*3, GG, GA, and AA variants in the Abkhazian population, both in healthy individuals and in individuals with thrombosis, in order to determine the therapeutic dose of warfarin. It is important and relevant to conduct the mentioned research in the population of Abkhazia, since the foundation will be laid for the development of personalized medicine, and in addition, the results of the research have practical value for the prevention and treatment of thrombosis. Gene polymorphism was determined using a ESE Quant Tube Scanner, with Smart-Amplification method and real-time polymerase chain reaction (PCR) method. Based on the conducted studies, significant differences between the genotypes of CYP2C9 and VKORC1 genes were revealed between patients with thrombosis and healthy individuals. The data of healthy individuals differed significantly from the similar indicators of thrombotic individuals in almost all cases. This once again confirms the importance of studying gene polymorphisms in different conditions, especially in cases where drug dosage is concerned. The results obtained in determining the polymorphic variants of the VKORC1 and CYP2C9 genes studied by us should be taken into account when using algorithms to determine the optimal dosage option for warfarin treatment in thrombotic individuals of the Abkhazian population, both during treatment and for the prevention of thrombosis.

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