PGX CYP4F2 Genotyping
For detection of CYP4F2 variants affecting drug metabolism
Clinical Background
CYP4F2 encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. Metabolizer phenotypes can be predicted by the CYP4F2 genotype The clinical impact of the CYP4F2 genotype is influenced by whether a drug is activated or inactivated by CYP4F2, involvement of other metabolic pathways, and other non-genetic factors (eg, other medications, diet). Epidemiology
CYP4F2 variant frequency is ethnicity dependent. Genetics
The CYP4F2 gene is located on chromosome 19p13.12. Inheritance is autosomal recessive. Penetrance is drug-dependent. Indications for Ordering
Pre-therapeutic testing to identify individuals who should avoid, or may require unconventional doses of medications metabolized by CYP4F2. Interpretation
If no CYP4F2 variants are detected, this suggests *1 allele and normal enzymatic activity. If one decreased functional or non-functional CYP4F2 variant is detected, intermediate-to- normal CYP4F2 enzymatic activity is predicted. If two non-functional variants are present on opposite allele, this predicts low CYP4F2 enzymatic activity and a poor metabolizer phenotype. Genotype results should be interpreted in context of the individual clinical situation. Consultation with a clinical pharmacy professional is recommended.
Indiana University School of Medicine Division of Diagnostic Genomics - Pharmacogenomics Laboratory 975 West Walnut Street, IB247 Indianapolis, IN. 46202-5251 Tel. 317-274-0143
Methodology
Realtime Polymerase chain reaction (PCR) and microarray analysis
Variant in CYP4F2 Assay
Allele variant dbSNP Predicted enzyme activity
*1 Assumed when no variant detected Normal
*3 18000G>A rs2108622 Decreased
Indiana University School of Medicine Division of Diagnostic Genomics - Pharmacogenomics Laboratory 975 West Walnut Street, IB247 Indianapolis, IN. 46202-5251 Tel. 317-274-0143