FREQUENCY OF VKORC1 AND CYP2C9 GENES POLYMORPHISM IN ABKHAZIAN POPULATION

Area of Science:

• Pharmacogenomics
• Medical Genetics
• Molecular Biology

Background:

• Warfarin is a critical anticoagulant for thrombosis treatment, but its efficacy and safety are influenced by genetic factors.
• The Vitamin K Epoxide Reductase Complex 1 (VKORC1) and Cytochrome P450 2C9 (CYP2C9) genes play key roles in warfarin metabolism and action.
• Understanding the genetic variability of these genes is essential for personalized medicine approaches.

Purpose of the Study:

• To investigate the allelic frequencies of VKORC1 and CYP2C9 genes in the Abkhazian population.
• To compare genotype distributions between healthy donors and patients with thrombosis.
• To explore the implications of these genetic variations for warfarin treatment and thrombosis prevention.

Main Methods:

• Genotyping of VKORC1 and CYP2C9 gene alleles using a tube scanner (ESE Quant Tube Scaner).
• Identification of Single Nucleotide Polymorphisms (SNPs) associated with warfarin pharmacodynamics and pharmacokinetics.
• Statistical analysis to compare genotype frequencies between case (thrombosis patients) and control (healthy donors) groups.

Main Results:

• Significant differences in VKORC1 genotype frequencies were observed, with wild-type homozygotes being more prevalent in thrombosis patients (32.5%) compared to controls (13.5%).
• CYP2C9 gene polymorphisms showed marked variations, particularly the *1/*1 genotype, which was less common in thrombosis patients (14.5%) than in healthy individuals (32.9%).
• The CYP2C9 *2/*3 genotype was significantly less frequent in thrombotic individuals (11.4%) compared to healthy individuals (40.3%).

Conclusions:

• The study reveals significant genetic variability in VKORC1 and CYP2C9 genes between thrombosis patients and healthy individuals in the Abkhazian population.
• These genetic polymorphisms are important factors to consider when determining optimal warfarin dosage for thrombosis treatment and prevention in this ethnic group.
• Personalized dosing algorithms incorporating VKORC1 and CYP2C9 genotypes can improve warfarin therapy outcomes.