Validation of a rapid and inexpensive allele-specific amplification (ASA)-PCR genotyping assay for vitamin K antagonist pharmacogenomics

Molecular Diagnosis and Therapy

Volumn 15, Issue 1, 2011, Pages 13-19

  Spohn, Gabriele ^a   Geisen, Christof ^a   Luxembourg, Beate ^a   Sittinger, Katja ^a   Seifried, Erhard ^a   Bnig, Halvard ^a  

^a GOETHE UNIVERSITY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIVITAMIN K;

ALLELE; ARTICLE; ASSAY; BLOOD DONOR; CAUCASIAN; CONTROLLED STUDY; DNA POLYMORPHISM; DNA SEQUENCE; FEMALE; GENETIC ANALYSIS; GENOTYPE; HUMAN; MALE; PHARMACOGENOMICS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RANDOM SAMPLE; RETROSPECTIVE STUDY; SINGLE NUCLEOTIDE POLYMORPHISM; VALIDATION PROCESS;

ALLELES; ARYL HYDROCARBON HYDROXYLASES; BASE SEQUENCE; COUMARINS; FEMALE; GENE AMPLIFICATION; GENOTYPE; HUMANS; MALE; MIXED FUNCTION OXYGENASES; NUCLEIC ACID AMPLIFICATION TECHNIQUES; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ANALYSIS, DNA; VITAMIN K;

EID: 79953792131     PISSN: 11771062     EISSN: 11792000     Source Type: Journal    
DOI: 10.2165/11588300-000000000-00000     Document Type: Article

References (26)

1. Takeuchi F, McGinnis R, Bourgeois S, et al. A genome-wide association study confirms VKORC1, CYP2C9, and CYP4F2 as principal genetic determinants of warfarin dose. PLoS Genet 2009 Mar; 5 (3): e1000433
2. Rettie AE, Korzekwa KR, Kunze KL, et al. Hydroxylation of warfarin by human cDNA-expressed cytochrome P-450: a role for P-4502C9 in the etiology of (S)-warfarin-drug interactions. Chem Res Toxicol 1992 Jan; 5 (1): 54-9
3. Kaminsky LS, Zhang ZY. Human P450 metabolism of warfarin. Pharmacol Ther 1997; 73 (1): 67-74 (Pubitemid 26425815)
4. Li T, Chang CY, Jin DY, et al. Identification of the gene for vitaminKepoxide reductase. Nature 2004 Feb 5; 427 (6974): 541-4
5. Rost S, Fregin A, Ivaskevicius V, et al. Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2. Nature 2004 Feb 5; 427 (6974): 537-41 (Pubitemid 38209110)
6. Limdi NA, Wadelius M, Cavallari L, et al. Warfarin pharmacogenetics: a single VKORC1 polymorphism is predictive of dose across 3 racial groups. Blood 2010 May 6; 115 (18): 3827-34
7. Rieder MJ, Reiner AP, Gage BF, et al. Effect of VKORC1 haplotypes on transcriptional regulation and warfarin dose. N Engl J Med 2005 Jun 2; 352 (22): 2285-93 (Pubitemid 40740552)
8. Geisen C, Watzka M, Sittinger K, et al. VKORC1 haplotypes and their impact on the inter-individual and inter-ethnical variability of oral anticoagulation. Thromb Haemost 2005 Oct; 94 (4): 773-9 (Pubitemid 41489236)
9. Stehle S, Kirchheiner J, Lazar A, et al. Pharmacogenetics of oral anticoagulants: a basis for dose individualization. Clin Pharmacokinet 2008; 47 (9): 565-94
10. Luxembourg B, Schneider K, Sittinger K, et al. Impact of pharmacokinetic (CYP2C9) and pharmacodynamic (VKORC1, F7, GGCX, CALU, EPHX1) gene variants on the initiation and maintenance phases of phenprocoumon therapy. Thromb Haemost 2011 Jan 3; 105 (1): 169-80
11. Geisen C, Luxembourg B, Watzka M, et al. Prediction of phenprocoumon maintenance dose and phenprocoumon plasma concentration by genetic and non-genetic parameters. Eur J Clin Pharmacol 2011 Apr; 67 (4): 371-81
12. Bodin L, Verstuyft C, Tregouet DA, et al. Cytochrome P450 2C9 (CYP2C9) and vitamin K epoxide reductase (VKORC1) genotypes as determinants of acenocoumarol sensitivity. Blood 2005 Jul 1; 106 (1): 135-40 (Pubitemid 40967184)
13. Puehringer H, Loreth RM, KloseG, et al. VKORC1-1639G>A and CYP2C9* 3 are the major genetic predictors of phenprocoumon dose requirement. Eur J Clin Pharmacol 2010 Jun; 66 (6): 591-8
14. Schalekamp T, Brasse BP, Roijers JF, et al. VKORC1 and CYP2C9 genotypes and acenocoumarol anticoagulation status: interaction between both genotypes affects overanticoagulation. Clin Pharmacol Ther 2006 Jul; 80 (1): 13-22 (Pubitemid 43964915)
15. Schalekamp T, Brasse BP, Roijers JF, et al. VKORC1 and CYP2C9 genotypes and phenprocoumon anticoagulation status: interaction between both genotypes affects dose requirement. Clin Pharmacol Ther 2007 Feb; 81 (2): 185-93 (Pubitemid 46174815)
16. Caraco Y, Blotnick S, Muszkat M. CYP2C9 genotype-guided warfarin prescribing enhances the efficacy and safety of anticoagulation: a prospective randomized controlled study. Clin Pharmacol Ther 2008 Mar; 83 (3): 460-70 (Pubitemid 351272635)
17. Anderson JL, Horne BD, Stevens SM, et al. Randomized trial of genotypeguided versus standard warfarin dosing in patients initiating oral anticoagulation. Circulation 2007 Nov 27; 116 (22): 2563-70 (Pubitemid 350179221)
18. Ferder NS, Eby CS, Deych E, et al. Ability of VKORC1 and CYP2C9 to predict therapeutic warfarin dose during the initial weeks of therapy. J Thromb Haemost 2010 Jan; 8 (1): 95-100
19. Epstein RS, Moyer TP, Aubert RE, et al. Warfarin genotyping reduces hospitalization rates results from the MM-WES (Medco-Mayo Warfarin Effectiveness Study). J Am Coll Cardiol 2010 Jun 22; 55 (25): 2804-12
20. Eckman MH, Rosand J, Greenberg SM, et al. Cost-effectiveness of using pharmacogenetic information in warfarin dosing for patients with nonvalvular atrial fibrillation. Ann Intern Med 2009 Jan 20; 150 (2): 73-83
21. You JH, Tsui KK, Wong RS, et al. Potential clinical and economic outcomes of CYP2C9 and VKORC1 genotype-guided dosing in patients starting warfarin therapy. Clin Pharmacol Ther 2009 Nov; 86 (5): 540-7
22. Gustincich S, Manfioletti G, Del Sal G, et al. A fast method for high-quality genomic DNA extraction from whole human blood. Biotechniques 1991 Sep; 11 (3): 298-302
23. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988 Feb 11; 16 (3): 1215
24. Aithal GP, Day CP, Leathart JB, et al. Relationship of polymorphism in CYP2C9 to genetic susceptibility to diclofenac-induced hepatitis. Pharmacogenetics 2000 Aug; 10 (6): 511-8
25. Sullivan-Klose TH, Ghanayem BI, Bell DA, et al. The role of the CYP2C9- Leu359 allelic variant in the tolbutamide polymorphism. Pharmacogenetics 1996 Aug; 6 (4): 341-9 (Pubitemid 26288624)
26. US National Center for Biotechnology Information [NCBI]. Single nucleotide polymorphism database [dbSNP; online]. Available from URL: http://www.ncbi.nlm.nih.gov/projects/SNP/ [Accessed 2011 Feb 10]