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. Author manuscript; available in PMC: 2012 May 1.
Published in final edited form as: Trends Mol Med. 2011 Mar 8;17(5):244–251. doi: 10.1016/j.molmed.2011.01.007

Table 2.

Major clinical information for CNVs in pharmacogenetic genes.

CNV type Drug affected Phenotype Clinical indication PharmGKB gene category Reference
CYP2A6*4 Deletion Nicotine
Coumarin
Tegafur
No enzyme activity Unknown VIP [9092]
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.