Literature DB >> 20442691

Extending and evaluating a warfarin dosing algorithm that includes CYP4F2 and pooled rare variants of CYP2C9.

Hersh Sagreiya1, Hersh Sagrieya, Caroline Berube, Alice Wen, Ramesh Ramakrishnan, Alain Mir, Amy Hamilton, Russ B Altman.   

Abstract

OBJECTIVE: Warfarin dosing remains challenging because of its narrow therapeutic window and large variability in dose response. We sought to analyze new factors involved in its dosing and to evaluate eight dosing algorithms, including two developed by the International Warfarin Pharmacogenetics Consortium (IWPC).
METHODS: we enrolled 108 patients on chronic warfarin therapy and obtained complete clinical and pharmacy records; we genotyped single nucleotide polymorphisms relevant to the VKORC1, CYP2C9, and CYP4F2 genes using integrated fluidic circuits made by Fluidigm.
RESULTS: When applying the IWPC pharmacogenetic algorithm to our cohort of patients, the percentage of patients within 1 mg/d of the therapeutic warfarin dose increases from 54% to 63% using clinical factors only, or from 38% using a fixed-dose approach. CYP4F2 adds 4% to the fraction of the variability in dose (R) explained by the IWPC pharmacogenetic algorithm (P<0.05). Importantly, we show that pooling rare variants substantially increases the R for CYP2C9 (rare variants: P=0.0065, R=6%; common variants: P=0.0034, R=7%; rare and common variants: P=0.00018; R=12%), indicating that relatively rare variants not genotyped in genome-wide association studies may be important. In addition, the IWPC pharmacogenetic algorithm and the Gage (2008) algorithm perform best (IWPC: R=50%; Gage: R=49%), and all pharmacogenetic algorithms outperform the IWPC clinical equation (R=22%). VKORC1 and CYP2C9 genotypes did not affect long-term variability in dose. Finally, the Fluidigm platform, a novel warfarin genotyping method, showed 99.65% concordance between different operators and instruments.
CONCLUSION: CYP4F2 and pooled rare variants of CYP2C9 significantly improve the ability to estimate warfarin dose.

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Year:  2010        PMID: 20442691      PMCID: PMC3098751          DOI: 10.1097/FPC.0b013e328338bac2

Source DB:  PubMed          Journal:  Pharmacogenet Genomics        ISSN: 1744-6872            Impact factor:   2.089


  37 in total

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Authors:  Hsiang-Yu Yuan; Jin-Jer Chen; M T Michael Lee; Ju-Chieh Wung; Ying-Fu Chen; Min-Ji Charng; Ming-Jen Lu; Chi-Ren Hung; Chun-Yu Wei; Chien-Hsiun Chen; Jer-Yuarn Wu; Yuan-Tsong Chen
Journal:  Hum Mol Genet       Date:  2005-05-11       Impact factor: 6.150

2.  Effect of VKORC1 haplotypes on transcriptional regulation and warfarin dose.

Authors:  Mark J Rieder; Alexander P Reiner; Brian F Gage; Deborah A Nickerson; Charles S Eby; Howard L McLeod; David K Blough; Kenneth E Thummel; David L Veenstra; Allan E Rettie
Journal:  N Engl J Med       Date:  2005-06-02       Impact factor: 91.245

3.  Association between CYP2C9 genetic variants and anticoagulation-related outcomes during warfarin therapy.

Authors:  Mitchell K Higashi; David L Veenstra; L Midori Kondo; Ann K Wittkowsky; Sengkeo L Srinouanprachanh; Fred M Farin; Allan E Rettie
Journal:  JAMA       Date:  2002-04-03       Impact factor: 56.272

4.  Association of polymorphisms in the cytochrome P450 CYP2C9 with warfarin dose requirement and risk of bleeding complications.

Authors:  G P Aithal; C P Day; P J Kesteven; A K Daly
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5.  The impact of CYP2C9 and VKORC1 genetic polymorphism and patient characteristics upon warfarin dose requirements: proposal for a new dosing regimen.

Authors:  Elizabeth A Sconce; Tayyaba I Khan; Hilary A Wynne; Peter Avery; Louise Monkhouse; Barry P King; Peter Wood; Patrick Kesteven; Ann K Daly; Farhad Kamali
Journal:  Blood       Date:  2005-06-09       Impact factor: 22.113

6.  A polymorphism in the VKORC1 gene is associated with an interindividual variability in the dose-anticoagulant effect of warfarin.

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7.  Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2.

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Journal:  Nature       Date:  2004-02-05       Impact factor: 49.962

8.  Identification of the gene for vitamin K epoxide reductase.

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Review 9.  Pharmacogenetics of warfarin elimination and its clinical implications.

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Journal:  Clin Pharmacokinet       Date:  2001       Impact factor: 5.577

10.  High-throughput single nucleotide polymorphism genotyping using nanofluidic Dynamic Arrays.

Authors:  Jun Wang; Min Lin; Andrew Crenshaw; Amy Hutchinson; Belynda Hicks; Meredith Yeager; Sonja Berndt; Wen-Yi Huang; Richard B Hayes; Stephen J Chanock; Robert C Jones; Ramesh Ramakrishnan
Journal:  BMC Genomics       Date:  2009-11-28       Impact factor: 3.969

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  29 in total

1.  The missing association: sequencing-based discovery of novel SNPs in VKORC1 and CYP2C9 that affect warfarin dose in African Americans.

Authors:  M A Perera; E Gamazon; L H Cavallari; S R Patel; S Poindexter; R A Kittles; D Nicolae; N J Cox
Journal:  Clin Pharmacol Ther       Date:  2011-01-26       Impact factor: 6.875

2.  Effect of CYP4F2, VKORC1, and CYP2C9 in Influencing Coumarin Dose: A Single-Patient Data Meta-Analysis in More Than 15,000 Individuals.

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Journal:  Clin Pharmacol Ther       Date:  2019-02-17       Impact factor: 6.875

Review 3.  The Role of Next-Generation Sequencing in Pharmacogenetics and Pharmacogenomics.

Authors:  Ute I Schwarz; Markus Gulilat; Richard B Kim
Journal:  Cold Spring Harb Perspect Med       Date:  2019-02-01       Impact factor: 6.915

4.  Facilitating pharmacogenetic studies using electronic health records and natural-language processing: a case study of warfarin.

Authors:  Hua Xu; Min Jiang; Matt Oetjens; Erica A Bowton; Andrea H Ramirez; Janina M Jeff; Melissa A Basford; Jill M Pulley; James D Cowan; Xiaoming Wang; Marylyn D Ritchie; Daniel R Masys; Dan M Roden; Dana C Crawford; Joshua C Denny
Journal:  J Am Med Inform Assoc       Date:  2011 Jul-Aug       Impact factor: 4.497

5.  Absence of novel CYP4F2 and VKORC1 coding region DNA variants in patients requiring high warfarin doses.

Authors:  James K Burmester; Richard L Berg; Ingrid Glurich; Steven H Yale; John R Schmelzer; Michael D Caldwell
Journal:  Clin Med Res       Date:  2011-05-11

Review 6.  Relating human genetic variation to variation in drug responses.

Authors:  Ashraf G Madian; Heather E Wheeler; Richard Baker Jones; M Eileen Dolan
Journal:  Trends Genet       Date:  2012-07-26       Impact factor: 11.639

7.  Genetic variation of VKORC1 and CYP4F2 genes related to warfarin maintenance dose in patients with myocardial infarction.

Authors:  Marianne K Kringen; Kari Bente Foss Haug; Runa M Grimholt; Camilla Stormo; Sigrid Narum; Mimi S Opdal; Jan Toralf Fosen; Armin P Piehler; Per W Johansen; Ingebjørg Seljeflot; Jens Petter Berg; Odd Brørs
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8.  A cellular system for quantitation of vitamin K cycle activity: structure-activity effects on vitamin K antagonism by warfarin metabolites.

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Review 9.  Clopidogrel and warfarin pharmacogenetic tests: what is the evidence for use in clinical practice?

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Review 10.  Pharmacogenetics and cardiovascular disease--implications for personalized medicine.

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