Pharmacogenomics

Question 1

CYP2C19 variants

Answer 1

CYP2C192 variant is a G to A polymorphism at position 681 in exon 5 which causes a splicing defect within exon 5 leading to a reduction in enzyme activity
• CYP2C193 variant allele, a G to A polymorphism at position 636 within exon 4 and introduces a premature stop codon leading to the production of a defective enzyme

Question 2

Consequences of polymorphisms

Answer 2

Affects 
drug metabolism
Drug transport
Receptor sensitivity 
ADRs toxicity
Disease susceptibility 
Therapeutic efficacy