From SNPedia
| ? | (C;C) (C;T) (T;T) | 28 |
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is a SNP in the cytochrome P450, family 4, subfamily F, polypeptide 2
CYP4F2 gene.
[PMID 18787519] In the males rs2108622(G) was significantly higher in cerebral infarction patients (P = 0.025)
[PMID 19207028] A study of Italian patients concluded that rs2108622(T;T) patients require 5.49 mg/day of warfarin versus 2.93 mg/day for (C;C) patients. Analysis of variance indicates that about 7% of mean weekly warfarin dose variance is explained by CYP4F2 genotype.
[PMID 19300499] A Genome-Wide Association Study Confirms VKORC1, CYP2C9, and CYP4F2 as Principal Genetic Determinants of Warfarin Dose.
[PMID 19097922] A haplotype of the CYP4F2 gene associated with myocardial infarction in Japanese men.
| OMIM | 604426 |
| Desc | CYTOCHROME P450, FAMILY 4, SUBFAMILY F, POLYPEPTIDE 2; CYP4F2 |
| Variant | |
| Related | also |
[PMID 19741565] Effects of CYP4F2 genetic polymorphisms and haplotypes on clinical outcomes in patients initiated on warfarin therapy
| PharmGKB | PA165291903 |
| Name | CYP4F2: C>T (V433M) |
| Annotation | Risk or phenotype-associated allele: no allelic association. Phenotype: Improved pharmacogenetic algorithm-based warfarin dosing. Study size: 370. Study population/ethnicity: Self identified white, black, or "intermediate" Brazilians. Significance metric(s): p > 0.05. Type of association: PK. |
| Gene | CYP4F2 |
| Featue | Exon/NonSyn |
| Evidence | PubMed ID:20182420 |
| Drugs | warfarin |
| Diseases | |
| Curation Level | Curated |
[PMID 20182420] A study of 370 Brazilian ("admixed") patients concludes that prospective CYP4F2 genotyping is of little value to these patients, presumably due to ethnic-based differences.
[PMID 20555338] Worldwide allele frequency distribution of four polymorphisms associated with warfarin dose requirements
| GWAS snp
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| PMID
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[PMID 20833655]
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| Trait
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|
| Title
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Genome-wide association study identifies genetic determinants of warfarin responsiveness for Japanese
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| Risk Allele
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T
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| P-val
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3E-8
|
| Odds Ratio
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None None
|
| PharmGKB | PA161149199 |
| Name | CYP4F2:V433M |
| Annotation | This variant is found to have clinical impact on stable warfarin dose. Patients with 2 TT alleles were reported to require approximately 1 mg/day more warfarin than patients with 2 CC alleles. This variant affects enzyme acitivity and was shown to decrease 20-HETE production in a reconstituted recombinant protein system to approximately 60% of the wild-type enzyme. |
| Gene | CYP4F2 |
| Featue | Exon/NonSyn |
| Evidence | PubMed ID:17341693; PubMed ID:18250228 |
| Drugs | warfarin |
| Diseases | |
| Curation Level | Curated |
| PharmGKB | PA164739915 |
| Name | |
| Annotation | GWAS results: A Genome-Wide Association Study Confirms VKORC1, CYP2C9, and CYP4F2 as Principal Genetic Determinants of Warfarin Dose. (Initial Sample Size: 1,053 individuals; Replication Sample Size: 588 individuals); (Region: 19p13.12; Reported Gene(s): CYP4F2; Risk Allele: rs2108622-?); (p-value= 0.0000000003).This variant is associated with Warfarin maintenance dose. |
| Gene | CYP4F2 |
| Featue | Exon/NonSyn |
| Evidence | PubMed ID:19300499; Web Resource:http://www.genome.gov/gwastudies/ |
| Drugs | warfarin |
| Diseases | |
| Curation Level | Non-Curated |
| PharmGKB | PA164920441 |
| Name | CYP4F2: V433M |
| Annotation | An in-vitro study demonstrated that CYP4F2 is a vitamin K(1) oxidase and that carriers of the CYP4F2 V433M allele have a reduced capacity to metabolize vitamin K. Secondary, this variant causes a decrease in steady-state hepatic concentrations of the enzyme. |
| Gene | CYP4F2 |
| Featue | Exon/NonSyn |
| Evidence | PubMed ID:19297519 |
| Drugs | warfarin |
| Diseases | |
| Curation Level | Curated |
| PharmGKB | PA165110361 |
| Name | CYP4F2:V433M |
| Annotation | In a study of 100 white men with nonvalvular atrial fibrillation, the CYP4F2 rs2108622 (V433M) genotype significantly contributes to both early anticoagulant effect (international normalized ratio [INR]) (R2 = 0.14) and acenocoumarol dose requirements (R2 = 0.19). The V433M genotype had a gene dosage-dependent effect in decreasing plasma clotting factors in early drug response, with 433V homozygotes being the most sensitive. After initiation of therapy, the INR showed a gene significant dosage-dependent effect (P = .015), and 433V subjects needing 4 mg/week less than 433M carriers to achieve a steady anticoagulation (P = .043). The dose required to achieve a steady INR was also influenced by CYP4F2 genotype, similar to data reported for warfarin therapy. The CYP4F2 433M allele is reported to have decreased activity. |
| Gene | CYP4F2 |
| Featue | Exon/NonSyn |
| Evidence | PubMed ID:19270263 |
| Drugs | acenocoumarol |
| Diseases | Arteriosclerosis, Heart Diseases, Hemorrhage, Intracranial Hemorrhages, Myocardial Infarction, Peripheral Vascular Diseases, Pulmonary Embolism, Stroke, Thromboembolism, venous thromboembolism, Venous Thrombosis |
| Curation Level | Curated |
| PharmGKB | PA165110431 |
| Name | CYP4F2:V433M |
| Annotation | Double homozygous VKORC1 1173T/T, CYP4F2 433Val/Val (n = 5) showed the highest INR (3.1; 2.0-4.7) and required the lowest acenocoumarol dose (11 ± 3 mg/week) The addition of the V433M genotype to the VKORC1 genotype raised the R2 from 8% to 14% for INR, and from 12% to 19% for acenocoumarol dose requirements. |
| Gene | CYP4F2 |
| Featue | Exon/NonSyn |
| Evidence | PubMed ID:19270263 |
| Drugs | acenocoumarol |
| Diseases | Arteriosclerosis, Heart Diseases, Hemorrhage, Intracranial Hemorrhages, Myocardial Infarction, Peripheral Vascular Diseases, Pulmonary Embolism, Stroke, Thromboembolism, venous thromboembolism, Venous Thrombosis |
| Curation Level | Curated |
| PharmGKB | PA165111646 |
| Name | CYP4F2 exon 11, c.1297G>A, mRNA 1347G>A, p.Val433Met |
| Annotation | Risk or phenotype-associated allele: A allele Phenotype: The A allele was not associated with variability in warfarin maintenance dose (p = 0.1270), however the combined effect of variants and age explained 26.6% of the overall interindividual in warfarin dose variability, with VKORC1 (rs9923231 A allele) accounting for 19.1%, CYP2C9 (rs1799853 T allele, or rs1057910 C allele) for 3.2%, EPHX1 (rs2292566 A allele) for 1.7%, CYP4F2 (rs2108622 C allele) gentoypes for 1.1%, and age for 1.5%. Study size: 283. Study population/ethnicity: Hospitalized Caucasian patients aged 75 years or older, recruited Sep 2002-Nov 2004 in Ivry, France, and Oct 2005-Mar 2008 from 14 French centers. Significance metric(s): mixed. Type of association: GN; PK. |
| Gene | CYP4F2 |
| Featue | Exon/NonSyn |
| Evidence | PubMed ID:19794411 |
| Drugs | warfarin |
| Diseases | |
| Curation Level | Curated |
[PMID 21084764] The influence of CYP4F2 rs2108622 (V433M) on warfarin dose requirement in Asian patients
[PMID 21127708] Genetic Variation of VKORC1 and CYP4F2 Genes Related to Warfarin Maintenance Dose in Patients with Myocardial Infarction
[PMID 21187935] Genes Involved in the Metabolism of Poly-Unsaturated Fatty-Acids (PUFA) and Risk for Crohn's Disease in Children & Young Adults
| GWAS snp
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| PMID
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[PMID 21729881]
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| Trait
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|
| Title
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Genome-wide association study identifies common variants associated with circulating vitamin E levels.
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| Risk Allele
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T
|
| P-val
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1E-10
|
| Odds Ratio
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0.0300 [0.01-0.05] unit increase
|
[PMID 22172097] CYP4F2 gene polymorphism as a contributor to warfarin maintenance dose in Japanese subjects
[PMID 22192158] Influence of CYP4F2 genotype on warfarin dose requirement-a systematic review and meta-analysis
[PMID 22549502] Effects of CYP4F2 Gene Polymorphisms on Warfarin Clearance and Sensitivity in Korean Patients With Mechanical Cardiac Valves
