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[FREQUENCY OF POLYMORPHISM OF VKORC1 AND CYP2C9 GENES IN TWO REGIONS OF GEORGIA]
T Jokhadze1, N Kakauridze1, T Buadze1
1Iv. Javakhishvili Tbilisi State University; Tbilisi State Medical University, Georgia.
Georgian Medical News
|February 13, 2016
Summary
Genetic variations in VKORC1 and CYP2C9 genes impact warfarin treatment for thrombosis patients in Georgia. Understanding these VKORC1 and CYP2C9 gene polymorphisms is crucial for effective thrombosis prevention and warfarin dosing.
Area of Science:
- Pharmacogenomics
- Molecular Biology
- Clinical Genetics
Background:
- Warfarin is a critical anticoagulant medication used in thrombosis treatment.
- The VKORC1 gene product is essential for blood clotting, and warfarin inactivates it.
- The CYP2C9 gene plays a key role in metabolizing warfarin, influencing its efficacy and safety.
Purpose of the Study:
- To investigate the allele frequencies of VKORC1 and CYP2C9 genes in healthy donors and thrombosis patients.
- To compare these frequencies between two distinct regions in Georgia: Samegrelo and Tbilisi.
- To explore the relationship between VKORC1 and CYP2C9 gene variants and their implications in warfarin therapy for thrombosis.
Main Methods:
- Genotyping of blood samples using a tube scanner (ESE Quant Tube Scaner).
- Identification of Single Nucleotide Polymorphisms (SNPs) in VKORC1 and CYP2C9 genes.
- Statistical analysis of allele and genotype frequencies in different study groups and regions.
Main Results:
- Significant variations in VKORC1 and CYP2C9 genotypes were observed in thrombosis patients across both regions.
- VKORC1 wild-type homozygotes predominated in Samegrelo (90%) and Tbilisi (60%) thrombosis patients.
- CYP2C9 allele frequencies showed variations, with Tbilisi patients having 70% wild-type homozygotes, 20% heterozygotes, and 10% mutant homozygotes.
Conclusions:
- VKORC1 and CYP2C9 gene polymorphisms are prevalent in the Georgian population and significantly vary among thrombosis patients.
- These genetic variations underscore the importance of pharmacogenetic testing for personalized warfarin dosing.
- Understanding these gene polymorphisms is vital for both the effective treatment and prevention of thrombosis.
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