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Warfarin Sensitivity Genotyping

Polymorphisms and Warfarin Sensitivity

Slide 10

August 2008

There are common polymorphisms in the CYP 2C gene that cause amino acid substitutions in the protein that are encoded by the gene. The alleles are designated by a star or asterisks followed by a number, the first one CYP2C9*2 has a substitution of a cystine for an arginine which is encoded at nucleotide 430, by a change from a cytosine to a thymidine. This reduces the enzymatic activity in the protein by about 50% for the metabolism of S-warfarin as compared to the wild type or normal which has no polymorphisms. The allele frequency for this particular polymorphism *2 is population dependent. The highest frequency is found in Northern European white populations, which is estimated between 8% and 13% of the total population.

Polymorphisms and Warfarin Sensitivity


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