Clinical Annotations
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Variant Annotations
PharmGKB variant annotations provide information about variant-drug pairs based on individual PubMed publications. Each annotation represents information from a single paper and the goal is to report the information that the author states, not an interpretation of the paper. The PMID for supporting PubMed publications is found in the "Evidence" field.
Information presented, including study size, allele frequencies and statistics is taken directly from the publication. However, if the author does not correct p-values in cases of multiple hypotheses, curators may apply a Bonferroni correction. Curators attempt to report study size based on the actual number of participants used for the calculation of the association statistics, so the number may vary slightly from what is reported in the abstract of the paper. OMB Race Category information is derived from the paper and mapped to standardized categories. Category definitions may be found by clicking on the "OMB Race Category" link.
There are 42 annotations for this variant. Register or sign in to see them.
There are 2 disease-related annotations for this variant. Register or sign in to see them.
VIP Variant in CYP2C9
The variant at this position is the defining allele for the CYP2C9*3 haplotype. Other variant positions delineate between haplotypes in the *3 series (see http://www.imm.ki.se/CYPalleles for defining website), but a C allele at this position defines a CYP2C9*3 haplotype. For further information about the CYP2C9*3 haplotype see the Haplotype page.
The catalytic activity of the *3 haplotype is significantly reduced for most CYP2C9 substrates because of both an increase in Km and a reduction in Vmax [Articles:11927841, 15637526, 14597963].
Leu/Leu homozygotes have lower metabolic activity for CYP2C9 substrates in general, including tolbutamide and phenytoin [Article:10761997]. However, much of the supporting data are from in-vitro studies and homozygous individuals are rare [Article:19082874]. In other studies, it has been found that heterozygotes have about half the clearance as wild-type, for the following drugs: S-warfarin, tolbutamide, fluvastatin, glimepiride, tenoxicam, candesartan, celecoxib, phenytoin [Article:15637526].
The clearance of S-ibuprofen is reduced in CYP2C9*3/*3 homozygotes compared with wild-type homogozygotes [Article:15289789]. In in-vivo studies, the CYP2C9*3 haplotype in heterozygote subjects has been associated with a lower clearance and longer half-life of flurbiprofen [Article:12698304].
| Population | N subjects | Allele Frequency of "C" | PMID |
|---|---|---|---|
| Chinese (Shanghai) | 394 | 0.036 | [Article:12803577] |
| Korean | 574 | 0.011 | [Article:11298075] |
| Japanese | 147 | 0.007 | [Article:16111713] |
| Japanese | 140 | 0.054 | [Article:9631918] |
| Japanese | 64 | 0.016 | [Article:16424822] |
| Vietnamese (Kinh) | 157 | 0.022 | [Article:15795654] |
| Iranian | 200 | 0.000 | [Article:17201743] |
| Turkish | 499 | 0.100 | [Article:10510154] |
| Ashekenazi Jew | 100 | 0.080 | [Article:16111713] |
| Yemenite Jew | 99 | 0.081 | [Article:16111713] |
| Moroccan Jew | 100 | 0.115 | [Article:16111713] |
| Libyan Jew | 89 | 0.174 | [Article:16111713] |
| Egyptian | 247 | 0.060 | [Article:12047484] |
| Ethiopian | 150 | 0.020 | [Article:11678789] |
| African-American | 66 | 0.008 | [Article:16424822] |
| Caucasian | 115 | 0.109 | [Article:16424822] |
| Russian | 290 | 0.067 | [Article:12879168] |
| Croatian | 200 | 0.095 | [Article:12950145] |
| French Caucasians | 151 | 0.080 | [Article:12803577] |
| German | 118 | 0.050 | [Article:12445031] |
| Swedish | 430 | 0.074 | [Article:9920790] |
| Spanish | 157 | 0.162 | [Article:11372590] |
| Italian | 157 | 0.090 | [Article:11678789] |
Appendix
CYP2C9: 359Ile>Leu
| Genomic Variant & GenBank ID: | 15489579 A>C on NT_030059 |
|---|---|
| mRNA Variant & GenBank ID: | 1075 A>C on NM_000771 |
| Protein Variant & GenBank ID: | 359Ile>Leu on NP_000762 |
| Key Haplotypes: | CYP2C9*3 |
| gp Position | chr10:96731043(hg18) |
Connected Drugs
Connected Drug Classes
Connected Diseases
Publications related to rs1057910 at chr10:96741053: 36
Cross-References
- UCSC Golden Path:
- chr10:96741053
- dbSNP:
- rs1057910
- ALFRED:
- SI000387S
- HapMap:
- rs1057910
- LS-SNP:
- rs1057910
Platform Availability
- Illumina