Variant:

rs1799853 at chr10:96702047 in CYP2C9 (VIP)

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 25 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

This variant in exon 3 is the defining allele for the CYP2C9*2 haplotype. Other variant positions delineate between haplotypes in the *2 series (see http://www.imm.ki.se/CYPalleles for defining website), but a T allele at this position defines a CYP2C9*2 haplotype. For further information about the CYP2C9*2 haplotype see the Haplotype page.

According to most in-vitro data, substrate affinity is not affected substantially by the *2 haplotype, but the maximum rate of metabolism (Vmax) is reduced to approximately 50% of that for CYP2C9*1 (wild-type) [Articles:11927841, 15637526, 14597963, 11337938].
Individuals homozygous for this variant have been found to have much lower clearance values for S-acenocoumarol, S-warfarin, phenytoin, tolbutamide, ibuprofen, nateglinide, fluvastatin, phenprocoumon when compared to individuals homozygous for R (Arg) [Articles:15637526, 16863464]. Homozygotes for this variant also have a lower clearance as compared to individuals homozygous for R (Arg) (68-90%) for the following drugs: phenytoin, tolbutamide, ibuprofen, nateglinide, fluvastatin, phenprocoumon [Article:15637526]. The R144C variant has been genotyped in various populations. The variant exists in about 10-20% of the Caucasian population, and is rare in the tested Asian and African-American populations [Articles:19151603, 15469410].

Publications related to rs1799853 at chr10:96702047: 22

VA	Contribution of VKORC1 and CYP2C9 polymorphisms in the interethnic variability of warfarin dose in Malaysian populations. Annals of hematology. 2011. Gan Gin Gin, et al. [Article:21110192@PubMed]
VA	CYP2C9 polymorphism in patients with epilepsy: genotypic frequency analyzes andphenytoin adverse reactions correlation. Arquivos de neuro-psiquiatria. 2011. Twardowschy Carlos Alexandre, et al. [Article:21537551@PubMed]
VA	Influence of CYP2C9 and VKORC1 polymorphisms on warfarin and acenocoumarol in a sample of Lebanese people. Journal of clinical pharmacology. 2011. Esmerian Maria O, et al. [Article:21148049@PubMed]
VA	In pediatric patients, age has more impact on dosing of vitamin K antagonists than VKORC1 or CYP2C9 genotypes. Blood. 2010. Nowak-Göttl Ulrike, et al. [Article:20833980@PubMed]
CA VA	Genetic factors (VKORC1, CYP2C9, EPHX1, and CYP4F2) are predictor variables for warfarin response in very elderly, frail inpatients. Clinical pharmacology and therapeutics. 2010. Pautas E, et al. [Article:19794411@PubMed]
CA VA	Loss-of-function CYP2C9 variants improve therapeutic response to sulfonylureas in type 2 diabetes: a Go-DARTS study. Clinical pharmacology and therapeutics. 2010. Zhou K, et al. [Article:19794412@PubMed]
VA	Effect of CYP2C9 polymorphisms on prescribed dose and time-to-stable dose of sulfonylureas in primary care patients with Type 2 diabetes mellitus. Pharmacogenomics. 2010. Swen Jesse J, et al. [Article:21121772@PubMed]
VA	Influence of CYP2C9 genetic polymorphism and undernourishment on plasma-free phenytoin concentrations in epileptic patients. Therapeutic drug monitoring. 2010. Ramasamy Kesavan, et al. [Article:21068649@PubMed]
VA	Influence of CYP2C9 polymorphism on metabolism of valproate and its hepatotoxin metabolite in Iranian patients. Toxicology mechanisms and methods. 2010. Amini-Shirazi Noushin, et al. [Article:20602621@PubMed]
VA	Cytochrome P450 2C9 variants influence response to celecoxib for prevention of colorectal adenoma. Gastroenterology. 2009. Chan Andrew T, et al. [Article:19233181@PubMed]
VA	CYP2C9, CYP2C19, and ABCB1 genotype and hospitalization for phenytoin toxicity. Journal of clinical pharmacology. 2009. Hennessy Sean, et al. [Article:19617466@PubMed]
VA	A genome-wide association study confirms VKORC1, CYP2C9, and CYP4F2 as principal genetic determinants of warfarin dose. PLoS genetics. 2009. Takeuchi Fumihiko, et al. [Article:19300499@PubMed]
VA	Estimation of the warfarin dose with clinical and pharmacogenetic data. The New England journal of medicine. 2009. International Warfarin Pharmacogenetics Consortium, et al. [Article:19228618@PubMed]
VA	Use of pharmacogenetic and clinical factors to predict the therapeutic dose of warfarin. Clinical pharmacology and therapeutics. 2008. Gage B F, et al. [Article:18305455@PubMed]
VA	Paradoxical urinary phenytoin metabolite (S)/(R) ratios in CYP2C19*1/*2 patients. Epilepsy research. 2006. Argikar Upendra A, et al. [Article:16815679@PubMed]
VA	Marked interindividual variability in the response to selective inhibitors of cyclooxygenase-2. Gastroenterology. 2006. Fries Susanne, et al. [Article:16401468@PubMed]
VA	Genotypes of the cytochrome p450 isoform, CYP2C9, and the vitamin K epoxide reductase complex subunit 1 conjointly determine stable warfarin dose: a prospective study. Journal of thrombosis and thrombolysis. 2006. Carlquist John F, et al. [Article:17111199@PubMed]
VA	Genetic predictors of the maximum doses patients receive during clinical use of the anti-epileptic drugs carbamazepine and phenytoin. Proceedings of the National Academy of Sciences of the United States of America. 2005. Tate Sarah K, et al. [Article:15805193@PubMed]
VA	Influence of CYP2C9 genetic polymorphisms on pharmacokinetics of celecoxib and its metabolites. Pharmacogenetics. 2003. Kirchheiner Julia, et al. [Article:12893985@PubMed]
VA	Influence of CYP2C9 genotypes on the formation of a hepatotoxic metabolite of valproic acid in human liver microsomes. The pharmacogenomics journal. 2003. Ho P C, et al. [Article:14597963@PubMed]
VA	In-vitro metabolism of celecoxib, a cyclooxygenase-2 inhibitor, by allelic variant forms of human liver microsomal cytochrome P450 2C9: correlation with CYP2C9 genotype and in-vivo pharmacokinetics. Pharmacogenetics. 2001. Tang C, et al. [Article:11337938@PubMed]
VA	Phenytoin metabolism by human cytochrome P450: involvement of P450 3A and 2C forms in secondary metabolism and drug-protein adduct formation. Drug metabolism and disposition: the biological fate of chemicals. 2000. Cuttle L, et al. [Article:10901705@PubMed]

Cross-References

Platform Availability

• Affymetrix
• Illumina

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