rs28399504

badMag 6.5

This is a variant in the CYP2C19 gene that changes a methionine to an valine.

Key Literature Trait Associations

Clopidogrel Response

This variant defines the CYP2C19*4 allele, a rare loss-of-function allele that produces a non-functional enzyme due to a GT>GG change at an exon 1 splice site (c.1A>G). Carriers have reduced ability to convert the prodrug clopidogrel (Plavix) into its active metabolite, leading to diminished antiplatelet effect. CPIC guidelines classify CYP2C19*4 carriers as poor or intermediate metabolizers who may benefit from alternative antiplatelet therapy such as prasugrel or ticagrelor.

Mega JL et al. “Reduced-function CYP2C19 genotype and risk of adverse clinical outcomes among patients treated with clopidogrel predominantly for PCI: a meta-analysis.” Jama (2010)

Allele G

OR —

p —

N 9,685

Meta-analysis

multi-ancestry

Scott SA et al. “Clinical Pharmacogenetics Implementation Consortium guidelines for cytochrome P450-2C19 (CYP2C19) genotype and clopidogrel therapy.” Clinical Pharmacology and Therapeutics 90(2):328-332 (2011)

Allele G

OR —

p —

Major Consortium Study

Mega JL et al. “Cytochrome p-450 polymorphisms and response to clopidogrel.” The New England Journal of Medicine (2009)

Allele G

OR —

p —

N 1,477

Preliminary work

European

Scott SA et al. “Clinical Pharmacogenetics Implementation Consortium guidelines for CYP2C19 genotype and clopidogrel therapy: 2013 update.” Clinical Pharmacology and Therapeutics 94(3):317-323 (2013)

Allele G

OR —

p —

Major Consortium Study

multi-ancestry

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ClinVar annotation

Drug Response★★★★

4 submitters6 publications

CYP2C19: no function; Citalopram response; Clopidogrel response; Escitalopram response; Mephenytoin, poor metabolism of; Sertraline response; Voriconazole response

View on ClinVar →

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Research that mentions this SNP (1)

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Interindividual Variability in the Hepatic Expression of the Human Breast Cancer Resistance Protein (BCRP/ABCG2): Effect of Age, Sex, and Genotype

AssociationN=1,000Bhagwat Prasad et al.(2013)· Journal of Pharmaceutical Sciences

Case-control study of 1,000 Han Chinese individuals (450 epilepsy cases, 550 controls) examining associations between STX1B polymorphisms and epilepsy treatment response. The rs140820592 variant showed significant association with reduced epilepsy risk (OR=0.542, p=0.004) and drug-resistant epilepsy risk (OR=0.260, p=0.004), with eQTL analysis confirming rs140820592 regulates STX1B expression in brain tissues.

Traits studied:Drug-resistant epilepsyDrug-responsive epilepsyEpilepsyImatinib response in chronic myelogenous leukemiaPraziquantel responseTacrolimus metabolism

rs28399504

Key Literature Trait Associations

Clopidogrel Response

ClinVar annotation

Research that mentions this SNP (1)

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