Well Known Pairs of Gene-Drug PGx Relationships

This table shows 26 well known pharmacogenomic gene-drug relationships with links to further information on the PharmGKB website.
Listed alphabetically by gene:

Gene	Drug	PharmGKB Annotations
CYP2C19	clopidogrel	Recent studies have suggested that treatment with clopidogrel is less effective in individuals who have CYP2C19 loss-of-function alleles, in particular CYP2C19*2, than in those who do not carry CYP2C19 loss-of-function alleles. For references and mappings of important variants see the CYP2C19 VIP. For a depiction of how the gene and drug are reported to interact see the Antiplatelet drug clopidogrel PK Pathway.
CYP2C19	esomeprazole	Several poor metabolizer variants of CYP2C19 have been associated with altered response to esomeprazole. For references and mappings of important variants see CYP2C19 VIP. For a depiction of how the gene and drug are reported to interact see the Proton Pump Inhibitor PK Pathway.
CYP2C19	omeprazole	Several poor metabolizer variants of CYP2C19 have been associated with altered response to omeprazole. For references and mappings of important variants see CYP2C19 VIP. For a depiction of how the gene and drug are reported to interact see the Proton Pump Inhibitor PK Pathway.
CYP2C9	celecoxib	The CYP2C9*3 variant has been associated with poor metabolism of celecoxib. For mappings of important variants see CYP2C9 VIP. For a depiction of how the gene and drug are reported to interact see the Celecoxib Pathway.
CYP2C9	warfarin	Several loss-of-function variants of CYP2C9 can influence response to warfarin. For references and mappings of important variants see CYP2C9 VIP. For depiction of how the gene and drug are reported to interact see the Warfarin PK Pathway.
CYP2D6	codeine	Several variants of CYP2D6 have been associated with adverse responses to codeine. For references and mappings of important variants see CYP2D6 VIP. For a depiction of how the gene and drug are reported to interact see the Codeine and Morphine PK Pathway.
CYP2D6	fluoxetine	Variants of CYP2D6 have been associated with response to fluoxetine. For references and mappings of important variants see CYP2D6 VIP. For a depiction of how the gene and drug are reported to interact see the SSRI Fluoxetine Pathway.
CYP2D6	metoprolol	In some studies CYP2D6 variants have been associated with differences in metoprolol response. For references and mappings of important variants see CYP2D6 VIP. For a depiction of how the gene and drug are reported to interact see the Sympathetic Nerve Pathway.
CYP2D6	tamoxifen	Poor metabolizer variants of CYP2D6 have been associated with increased risk of disease recurrence in tamoxifen treated breast cancer patients. For references and mappings of important variants see CYP2D6 VIP. For a depiction of how the gene and drug are reported to interact see the Tamoxifen PK Pathway.
DPYD	capecitabine	Variants in DPYD have been associated with increased risk of toxicity of fluorouracil drugs including the pro-drug capecitabine. For references and mappings of important variants see DPYD VIP. For a depiction of how the gene and drug are reported to interact see the Fluorouracil PK Pathway.
DPYD	5-fluorouracil	Variants in DPYD have been associated with increased risk of toxicity of 5-fluorouracil. For references and mappings of important variants see DPYD VIP. For a depiction of how the gene and drug are reported to interact see the Fluorouracil PK Pathway.
EGFR	erlotinib	EGFR expression is associated with response to erlotinib. For a depiction of how the gene and drug are reported to interact see the Erlotinib Pathway.
EGFR	gefitinib	EGFR expression is associated with response to gefitinib. For a depiction of how the gene and drug are reported to interact see the Gefitinib Pathway.
G6PD	chloroquine	Variants of G6PD are associated with adverse events following treatment with chloroquine. There are many documented variants of G6PD, a few of which are annotated in PharmGKB. For a comprehensive list see external variant refs and external drug ref
G6PD	dapsone	Variants of G6PD are associated with adverse events following treatment with dapsone. There are many documented variants of G6PD, a few of which are annotated in PharmGKB. For a comprehensive list see external variant refs and external drug ref
ERBB2	trastuzumab	Expression of the ERBB2 gene, also known as HER2/neu is associated with response to trastuzumab. For references and mappings of related variants see annotations.
HLA-B	abacavir	The HLA-B5701 haplotype has been associated with a severe adverse response to abacavir. The HLA-B5701 haplotype is comprised of a large number of SNPs including many in other genes. For references and mappings of related variants see annotations.
HLA-B	carbamazepine	The HLA-B1502 haplotype has been associated with a severe adverse response to carbamazepine. Patients carrying the HLA-B1502 allele have significant higher risk for severe skin reactions (Stevens Johnson syndrome and toxic epidermal necrolysis) associated with carbamazepine therapy. The HLA-B*1502 haplotype is comprised of a large number of SNPs including many in other genes. For references and mappings of related variants see annotations.
KIT	imatinib	Variants of KIT, also known as c-Kit, have been associated with response to imatinib. See curated literature on KIT and imatinib.
KRAS	cetuximab	Variants of KRAS have been associated with response to cetuximab. See curated literature on KRAS and cetuximab.
NAT2	isoniazid	Variants of NAT2 are associated with response to isoniazid. See curated literature on NAT2 and isoniazid and annotated variants of NAT2.
TPMT	azathioprine	Several variants of TPMT have been associated with increased risk of toxicity of azathioprine. For references and mappings of important variants see TPMT VIP. For a depiction of how the gene and drug are reported to interact see the Thiopurine Pathway.
TPMT	mercaptopurine	Several variants of TPMT have been associated with increased risk of toxicity of mercaptopurine. For references and mappings of important variants see TPMT VIP. For a depiction of how the gene and drug are reported to interact see the Thiopurine Pathway.
UGT1A1	irinotecan	Several variants of UGT1A1 have been associated with increased risk of toxicity of irinotecan. For references and mappings of important variants see UGT1A1 VIP. For a depiction of how the gene and drug are reported to interact see the Irinotecan Pathway.
VEGFA	bevacizumab	Expression of VEGFA is associated with response to bevacizumab. For a depiction of how the gene and drug are reported to interact see the VEGF Pathway.
VKORC1	warfarin	Variants in VKORC1 are predictive of different dose requirements for the drug warfarin. For references and mappings of important variants see VKORC1 VIP. For a depiction of how the gene and drug are reported to interact see the Warfarin PD Pathway.

Last Updated: October 1, 2009
Gene and drug pairs chosen from Frueh et al, Pharmacotherapy 2008 and New York Times, December 30th 2008.

The PharmGKB is financially supported by the NIH/ NIGMS and is managed at Stanford University (U01GM61374).
©2001-2010 PharmGKB.