From SNPedia
| Geno
|
Mag
|
Summary
|
| (C;C)
|
0
|
normal
|
| (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 |
|---|
 |
(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]
| PharmGKB | PA165291880 |
| Name | CYP2C19: -806C>T, CYP2C19*17 |
| Annotation | Risk or phenotype-associated allele: T Phenotype: For both C/T (n=546) and T/T (n=76) allele carriers, significantly lower ADP-induced platelet aggregation values were found compared with wild-type homozygotes (C/C; n=902; P=0.039 and P=0.008, respectively). T allele carriage was significantly associated with an increased risk of bleeding. The study concludes that CYP2C19*17 carrier status is significantly associated with enhanced response to clopidogrel and an increased risk of bleeding. Study size: 1524 patients. Study population/ethnicity: patients with coronary artery disease and planned drug-eluting stent placement; pretreatment with 600 mg clopidogrel. Type of association: CO; GN |
| Gene | CYP2C19 |
| Featue | |
| Evidence | PubMed ID:20083681 |
| Drugs | clopidogrel |
| Diseases | Coronary Disease |
| Curation Level | Curated |
| PharmGKB | PA161615690 |
| Name | CYP2C19: -806C>T |
| Annotation | This promoter variant is part of CYP2C19*17 haplotype, which causes increased acitivity and increased transcription of CYP2C19. Patients carrying this allele may exhibit a lack of response to commonly prescribed dosages of certain proton pump inhibitors (PPIs) and antidepressants, due to ultrarapid clearance of these drugs. CYP2C19*17 carriers are more likely to benifit from tamoxifen treatment. |
| Gene | CYP2C19 |
| Featue | |
| Evidence | PubMed ID:16413245; PubMed ID:18024866 |
| Drugs | amitriptyline, citalopram, clomipramine, escitalopram, omeprazole, proguanil, tamoxifen |
| Diseases | |
| Curation Level | Curated |
| PharmGKB | PA165374699 |
| Name | CYP2C19*17 CYP2C19: -806C>T |
| Annotation | Risk or phenotype-associated allele: T. Phenotype: Patients in the clopidogrel group who had any gain-of-function allele had a higher rate of events of major bleeding than did those without any gain-of-function or loss-of-function alleles. Study size: 5148 patients receiving 75 mg clopidogrel once daily Study population/ethnicity: predominantly white (98%) Significance metric(s): p=0.022 Type of association: GN |
| Gene | CYP2C19 |
| Featue | |
| Evidence | PubMed ID:20801498 |
| Drugs | clopidogrel |
| Diseases | |
| Curation Level | Curated |
| PharmGKB | PA165110646 |
| Name | part of CYP2C19*17, CYP2C19:(-806)C>T, CYP2C19: -806C>T |
| Annotation | Risk or phenotype-associated allele: T Phenotype: The CYP2C19*17 allele was associated with significantly increased metabolism of imipramine. Study size: 178 Study population/ethnicity: Psychiatric patients aged 18-65 with a score of greater than or equal to 17 on the Hamilton Rating Scale for Depression. Significance metric(s): p = 0.035 Type of association: PK |
| Gene | CYP2C19 |
| Featue | |
| Evidence | PubMed ID:19884907 |
| Drugs | imipramine |
| Diseases | |
| Curation Level | Curated |
[PMID 21247447] CYP2C19 and ABCB1 gene polymorphisms are differently distributed according to ethnicity in the Brazilian general population
