Pharmacogenes
Genes that change drug response.
Reference for the pharmacogenes whose variants are clinically actionable in patients of African ancestry. Variant frequencies sourced from CPIC and gnomAD; clinical recommendations follow CPIC guidelines.
ADRB2
Beta-2 Adrenergic Receptor
Receptor for beta-2 agonists (albuterol, formoterol). Variants influence asthma response.
APOL1
Apolipoprotein L1
Variants are strongly associated with kidney disease risk.
CYP2C19
Cytochrome P450 2C19
Metabolizes clopidogrel, proton pump inhibitors, several SSRIs, and voriconazole. Variants determine whether drugs are activated or cleared at expected rates.
CYP2C9
Cytochrome P450 2C9
Co-metabolizes warfarin, NSAIDs, several oral hypoglycemics.
CYP2D6
Cytochrome P450 2D6
Metabolizes codeine, tramadol, tamoxifen, many antidepressants and antipsychotics. Phenotype ranges from poor to ultrarapid metabolizer.
DPYD
Dihydropyrimidine Dehydrogenase
Catabolizes 5-fluorouracil and capecitabine.
G6PD
Glucose-6-Phosphate Dehydrogenase
G6PD deficiency causes hemolytic anemia in response to certain medications (rasburicase, primaquine, dapsone, sulfa drugs).
HBB
Hemoglobin Subunit Beta
Mutations cause sickle cell disease (HbS), HbC, beta-thalassemia. Pharmacogenomic relevance: hydroxyurea response in SCD depends on HBB and modifier genes.
HLA-B
Major Histocompatibility Complex, Class I, B
Carrier status is associated with severe drug-hypersensitivity reactions to abacavir, allopurinol, and carbamazepine.
SLCO1B1
Solute Carrier Organic Anion Transporter Family Member 1B1
Transporter that controls statin uptake into liver.
TPMT
Thiopurine S-Methyltransferase
Metabolizes thiopurines (azathioprine, 6-mercaptopurine, thioguanine).
VKORC1
Vitamin K Epoxide Reductase Complex Subunit 1
The drug target for warfarin. Variants determine warfarin sensitivity.