CYP2C19
| is a | gene |
| is | mentioned by |
| Full name | cytochrome P450, family 2, subfamily C, polypeptide 19 |
| EntrezGene | 1557 |
| PheGenI | 1557 |
| VariationViewer | 1557 |
| ClinVar | CYP2C19 |
| GeneCards | CYP2C19 |
| dbSNP | 1557 |
| Diseases | CYP2C19 |
| SADR | 1557 |
| HugeNav | 1557 |
| CYPANC | cyp2c19 |
| wikipedia | CYP2C19 |
| CYP2C19 | |
| gopubmed | CYP2C19 |
| EVS | CYP2C19 |
| HEFalMp | CYP2C19 |
| MyGene2 | CYP2C19 |
| 23andMe | CYP2C19 |
| UniProt | P33261 |
| Ensembl | ENSG00000165841 |
| OMIM | 124020 |
| # SNPs | 31 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs12248560 | 2 | 94,761,900 | Clopidogrel (Plavix®) |
| rs12767583 | 0 | 94,787,706 | |
| rs12769205 | 0 | 94,775,367 | |
| rs12773342 | 0 | 94,763,326 | |
| rs17878459 | 0 | 94,775,165 | |
| rs17879685 | 0 | 94,849,995 | |
| rs17882687 | 0 | 94,762,760 | |
| rs17884712 | 0 | 94,775,489 | |
| rs17885098 | 0 | 94,762,804 | |
| rs17886522 | 0 | 94,850,018 | |
| rs28399504 | 2.5 | 94,762,706 | Clopidogrel (Plavix®) |
| rs3758580 | 0 | 94,842,865 | |
| rs3758581 | 0 | 94,842,866 | |
| rs3814637 | 0 | 94,761,288 | |
| rs41291556 | 3 | 94,775,416 | Clopidogrel (Plavix®) |
| rs4244285 | 4 | 94,781,859 | Clopidogrel (Plavix®) |
| rs4917623 | 0 | 94,849,811 | |
| rs4986893 | 2.1 | 94,780,653 | Clopidogrel (Plavix®) |
| rs4986894 | 0 | 94,762,608 | |
| rs55640102 | 0 | 94,852,914 | |
| rs55752064 | 0 | 94,762,755 | |
| rs56337013 | 3 | 94,852,738 | Clopidogrel (Plavix®) |
| rs57081121 | 0 | 94,780,653 | |
| rs5787121 | 0 | 96,612,514 | |
| rs58973490 | 0 | 94,775,507 | |
| rs6413438 | 3 | 94,781,858 | |
| rs6583954 | 0 | 94,774,506 | |
| rs72552267 | 0 | 94,775,453 | |
| rs72558184 | 0 | 96,535,210 | Clopidogrel (Plavix®) |
| rs72558185 | 0 | 94,781,899 | |
| rs72558186 | 0 | 94,781,999 | Clopidogrel (Plavix®) |
CYP2C19 is a member of the IIC subfamily of the cytochrome p450 genes, responsible for metabolizing or activating some hormones (such as estrogens) and several commonly prescribed drugs, including anti-epileptics (such as diazepam, phenytoin, and phenobarbitone), anti-depressants (such as amitriptyline and clomipramine), the anti-platelet drug clopidogrel (Plavix), the anti-ulcer proton pump inhibitors like omeprazole (trade names Losec and Prilosec), esomeprazole (trade name Nexium), and lansoprazole (Prevacid), and even some hormones (like progesterone).
Asians and Pacific Islanders have a higher incidence of nonfunctional CYP2C19 variants, which may affect treatment for malaria. The antimalarial drug proguanil is metabolized by both CYP2C19 and CYP2D6. [[1]] [[2]]
Generally, with respect to CYP2C19, individuals are classified as rapid metabolizers if they are homozygous for the CYP2C19*1 allele (ie they are CYP2C19*1/CYP2C19*1), intermediate metabolizers if they have one CYP2C19*1 allele plus one variant allele (such as CYP2C19*2 or CYP2C19*3), and poor metabolizers if they carry two copies of a variant. Effective doses are higher for individuals who are poor metabolizers and thus treatment success is higher as well. [PMID 15952098]
SNPs in CYP2C19 include:
CYP2C19 allele nomenclature http://www.cypalleles.ki.se/cyp2c19.htm
Promethease checks this via genosets:
- gs150 CYP2C19 normal/rapid metabolizer (most likely)
- gs151 CYP2C19 Intermediate Metabolizer
- gs152 CYP2C19 Poor Metabolizer
- gs153 CYP2C19 Extensive or Ultra-Fast Metabolizer
As of May 2011, the CPMC is revealing to it's participants their CYP2C19 status, primarily in order to determine the suitability of taking clopidogrel. Coriell states that they determine CYP2C19 status based on the following SNPs:
- rs12248560 (CYP2C19*17) CC CC
- rs28399504 (CYP2C19*4) AA AA
- rs41291556 (CYP2C19*8) TT TT
- rs72558184 (CYP2C19*6) GG GG
- rs4986893 (CYP2C19*3) GG GG
- rs4244285 (CYP2C19*2) GG GG
- rs72558186 (CYP2C19*7) TT TT
- rs56337013 (CYP2C19*5) CC CC
- rs17884712 (CYP2C19*9) GG GG
- rs6413438 (CYP2C19*10) CC CC
