Table 2.
CNV type | Drug affected | Phenotype | Clinical indication | PharmGKB gene category | Reference | |
---|---|---|---|---|---|---|
CYP2A6*4 | Deletion | Nicotine Coumarin Tegafur |
No enzyme activity | Unknown | VIP | [90–92] |
CYP2A6*1x2 | Duplication | Increased enzyme activity | Unknown | VIP | ||
CYP2D6*1×N | Multiplication | Anticholinesterases Antidepressants Antipsychotics Beta Blocking Agents Opioids |
Increased enzyme activity | Alzheimer Disease Depression Hypertension Breat cancer Codeine dependence |
VIP | [19] |
CYP2D6*2×N | Multiplication | Increased enzyme activity | VIP | |||
CYP2D6*5 | Deletion | No enzyme activity | VIP | |||
GSTM1*0 | Deletion | Antineoplastic agent Xenobiotics | No enzyme activity | Breast cancer Non-small cell lung cancer Leukemia Drug toxicity |
[93, 94] | |
GSTT1*0 | Deletion | No enzyme activity | ||||
SULT1A1 | Multiplication | Unclear clinic impact on drugs | Increased enzyme activity | Unknown | VIP | |
SULT1A3 | Duplication | Unclear clinic impact on drugs | Unknown | Unknown | ||
UGT2B17 | Deletion | Estradiol Testosterone |
Dcreased enzyme activity | Androgen Excretion |
[95] |
VIP = very important pharmacogene.