|(C;T)||2||CYP2C19*17 ultra fast metabolizer; drug metabolism effects; also 0.77x decreased breast cancer risk|
|(T;T)||2||CYP2C19*17 ultra fast metabolizer; drug metabolism effects; also 0.77x decreased breast cancer risk|
|?||(C;C) (C;T) (T;T)||28|
This SNP has been recognized by the Coriell Personalized Medicine Collaborative ICOB.
rs12248560(T) defines the CYP2C19*17 allele, an ultra fast metabolizer phenotype of the CYP2C19 gene.
CYP2C19*17 is likely to lead to less effective drug treatment by, for example, proton pump inhibitors (such as omeprazole) and antidepressants.[PMID 16413245]
On the other hand, cancer patients who are CYP2C19*17 carriers are more likely to benefit from tamoxifen treatment, presumably because they break it down more rapidly into the antiestrogenic metabolites endoxifen and 4-hydroxytamoxifen.[PMID 18024866]
A study of 1,000+ breast cancer patients showed a 0.77x decreased risk of breast cancer for carriers of a CYP2C19*17 allele (CI: 0.65-0.93, p = 0.005). Analysis of a subgroup of such carriers who were using hormone therapy for ten years or longer showed an even stronger effect (odds ratio 0.57, CI: 0.39-0.83, p = 0.003). The theory is that ultra fast metabolism of estrogen leads to lower estrogen levels and lower breast cancer risk.[PMID 18521743]
[PMID 21247447] CYP2C19 and ABCB1 gene polymorphisms are differently distributed according to ethnicity in the Brazilian general population
[PMID 17048007] Association of warfarin dose with genes involved in its action and metabolism.
[PMID 19136640] Rapid identification of the hepatic cytochrome P450 2C19 activity using a novel and noninvasive [13C]pantoprazole breath test.
[PMID 21071160] Analysis of 50 SNPs in CYP2D6, CYP2C19, CYP2C9, CYP3A4 and CYP1A2 by MALDI-TOF mass spectrometry in Chinese Han population.
[PMID 21172166] Pharmacogenetics of antidepressant response.
[PMID 24380239] Characterization of the most common CYP2C9 and CYP2C19 allelic variants in the population from the Republic of Macedonia
[PMID 23133420] Pharmacogenomic Diversity among Brazilians: Influence of Ancestry, Self-Reported Color, and Geographical Origin.
[PMID 24519754] CYP2C19 genotype-phenotype discordance in patients with multiple myeloma leads to an acquired loss of drug-metabolising activity
|Disease||clopidogrel response - Dosage citalopram response - Metabolism/PK escitalopram response - Metabolism/PK not provided|
|CLNDBN||clopidogrel response - Dosage, Efficacy, Toxicity/ADR citalopram response - Metabolism/PK escitalopram response - Metabolism/PK not provided|
|CLNSRC||PharmGKB Clinical Annotation|
|CLNACC||RCV000211201.1, RCV000211253.1, RCV000211375.1, RCV000326411.1,|
[PMID 31441095] Development and validation of T-ARMS-PCR to detect CYP2C19*17 allele.