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Role of gene polymorphism in the optimalisation of the treatment with vitamin K antagonist. 

Sławomir Smolik ,  Ludmiła Węglarz 

Medical University of Silesia, Department of Biochemistry, Narcyzow 1, Sosnowiec 41-200, Poland


Oral anticoagulant treatment such as warfarin, acenocoumarol or warfarin, is universally used for treatment and prevention of thromboembolic events. Their clinical use is complicated by a the narrow therapeutic concentration range  and high variability in dose requirements among

individuals. Cytochrome P450 (CYP) 2C9 is involved in coumarin metabolizm and two allelic variations are most relevant for dose-response variability: CYP2C9 430C®T (CYP2C9*2) and CYP2C9 1075A®C (CYP2C9*3). The aim of presented study was to genotype these allelic variants with the use allele-specific amplification ASA-PCR assay among 104 patients with long QT syndrome. Genomic DNA was prepared from peripheral blood leukocytes  and ASA-PCR with internal and external pair of primers was performer to detect wild type or mutant allele according the number and the lenght of PCR products. The study showed the presense of 17 heterozygous allelic wariant and 2 homozygous for CYP2C9*2 and 9 heterozygous allelic wariant and 1 homozygous for CYP2C9*3. Presented method is significantly faster and less expensive than sequencing and very useful for pharmacogenetic information. 


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Related papers

Presentation: Poster at IX Multidyscyplinarna Konferencja Nauki o Leku, by Sławomir Smolik
See On-line Journal of IX Multidyscyplinarna Konferencja Nauki o Leku

Submitted: 2014-03-14 21:25
Revised:   2014-03-14 21:26