Resources

References

Payers & ACOs

  • Haga SB, O’Daniel JM, Tindall GM, Lipkus IR, Agans R. Survey of US public attitudes toward pharmacogenetic testing. The pharmacogenomics journal. 2012;12(3):197-204.
  • Charland SL, Agatep BC, Herrera V, Schrader B, Frueh FW, Ryvkin M et al. Providing patients with pharmacogenetic test results affects adherence to statin therapy: results of the Additional KIF6 Risk Offers Better Adherence to Statins (AKROBATS) trial. The Pharmacogenomics Journal. 2013 Aug 27. Doi: 10.1038/tpj.2013.27. [Epub ahead of print]
  • Lazarou J, Pomeranz BH, Corey PN. Incidence of Adverse Drug Reactions in Hospitalized Patients: a meta-analysis of prospective studies. JAMA : the journal of the American Medical Association. 1998;279(15):1200-5. PubMed PMID: 9555760.
  • Davies EC, Green CF, Mottram DR, Rowe PH, Pirmohamed M. Emergency re-admissions to hospital due to adverse drug reactions within 1 year of the index admission. British journal of clinical pharmacology. 2010;70(5):749-55. Epub 2010/11/03. doi: 10.1111/j.1365-2125.2010.03751.x. PubMed PMID: 21039769; PubMed Central PMCID: PMC2997315.

Pharmacogenetic Testing / Cytochrome P450 2D6 Genotyping

  • Schroth W, Goetz MP, Hamann U, Fasching PA, Schmidt M, Winter S et al. Association between CYP2D6 polymorphisms and outcomes among women with early stage breast cancer treated with tamoxifen. JAMA. 2009;302(13):1429-1436. PubMed PMID: 19809024.
  • Goetz MP, Knox SK, Suman VJ, Rae JM, Safgren SL, Ames MM et al. The impact of Cytochrome P450 2D6 metabolism in women receiving adjuvant tamoxifen. Breast Cancer Res Treat. 2007;101(1):113-21. PubMed PMID: 17115111.
  • Borges S, Desta Z, Li L, Skaar TC, Ward BA, Nguyen A et al. Quantitative effect of CYP2D6 genotype and inhibitors on tamoxifen metabolism: implication for optimization of breast cancer treatment. Clin Pharmacol Ther 2006;80(1):61-74. PubMed PMID: 16815318.
  • Kirchheiner J, Rodriguez-Antona C. Cytochrome P450 2D6 genotyping: potential role in improving treatment outcomes in psychiatric disorders. CNS Drugs. 2009;23(3):181-91. PubMed PMID: 19320528.
  • Seeringer A, Kirchheiner J. Pharmacogenetics-guided dose modifications of antidepressants. Clin Lab Med. 2008 Dec;28(4):619-26. PubMed PMID: 19059066.
  • Kirchheiner J, Nickchen K, Bauer M, Wong ML, Licinio J, Roots I et al. Pharmacogenetics of antidepressants and antipsychotics: the contribution of allelic variations to the phenotype of drug response. Molecular Psychiatry. 2004 May;9(5):442-73. PubMed PMID: 15037866.
  • Zhou SF. Polymorphism of human cytochrome P450 2D6 and its clinical significance: Part I. Clin Pharmacokinet. 2009;48(11):689-723. PubMed PMID: 19817501.
  • Zanger UM, Raimundo S, Eichelbaum M. Cytochrome P450 2D6: overview and update on pharmacology, genetics, biochemistry. Naunyn Schmiedebergs Arch Pharmacol. 2004 Jan;369(1):23-37. PubMed PMID: 14618296.
  • Otani K, Aoshima T.Pharmacogenetics of classical and new antipsychotic drugs. Ther Drug Monit. 2000 Feb;22(1):118-21. PubMed PMID: 10688273.
  • Murray M. Role of CYP pharmacogenetics and drug-drug interactions in the efficacy and safety of atypical and other antipsychotic agents. J Pharm Pharmacol. 2006 Jul;58(7):871-85. PubMed PMID: 16805946.
  • Kirchheiner J, Brøsen K, Dahl ML, Gram LF, Kasper S, Roots I et al. CYP2D6 and CYP2C19 genotype-based dose recommendations for antidepressants: a first step towards subpopulation-specific dosages. Acta Psych Scand. 2001 Sept;104(3):173-192. PubMed PMID: 11531654.
  • Wynn GH, Oesterheld JR, Cozza KL, Armstrong SC. Clinical Manual of Drug Interaction Principles for Medical Practice. 1st ed. Arlington, VA: American Psychiatric Publishing; 2009.
  • Bertilsson L, Dahl ML, Dalén P, Al-Shurbaji A: Molecular genetics of CYP2D6: clinical relevance with focus on psychotropic drugs. Br J Clin Pharmacol. 2002 Feb;53(2):111-22. PubMed PMID: 11851634.
  • Lam YW, Gaedigk A, Ereshefsky L, Alfaro CL, Simpson J. CYP2D6 inhibition by selective serotonin reuptake inhibitors: analysis of achievable steady-state plasma concentrations and the effect of ultrarapid metabolism at CYP2D6. Pharmacotherapy. 2002 Aug;22(8):1001-6. PubMed PMID: 12173784.

Pharmacogenetic Testing / Cytochrome P450 2C19 Genotyping

  • Mega JL, Close SL, Wiviott SD, Shen L, Hockett RD, Brandt JT et al. Cytochrome P-450 Polymorphisms and Response to Clopidogrel. N Engl J Med. 2009 Jan 22;360(4):354-62. PubMed PMID: 19106084.
  • Simon T, Verstuyft C, Mary-Krause M, Quteineh L, Drouet E, Méneveau N et al. Genetic determinants of response to clopidogrel and cardiovascular events. N Engl J Med. 2009 Jan 22;360(4):363-75. PubMed PMID: 19106083.
  • Gladding P, White H, Voss J, Ormiston J, Stewart J, Ruygrok P et al. Pharmacogenetic testing for clopidogrel using the rapid INFINITI analyzer: a dose-escalation study. JACC Cardiovasc Interv. 2009 Nov;2(11):1095-101. PubMed PMID: 19926050.
  • Desta Z, Zhao X, Shin JG, Flockhart DA. Clinical significance of the cytochrome P450 2C19 genetic polymorphism. Clin Pharmacokinet. 2002;41(12):913-58. PubMed PMID: 12222994.
  • Kirchheiner J, Nickchen K, Bauer M, Wong ML, Licinio J, Roots I et al. Pharmacogenetics of antidepressants and antipsychotics: the contribution of allelic variations to the phenotype of drug response. Molecular Psychiatry. 2004 May;9(5):442-73. PubMed PMID: 15037866.
  • Wynn GH, Oesterheld JR, Cozza KL, Armstrong SC. Clinical Manual of Drug Interaction Principles for Medical Practice. 1st ed. Arlington, VA: American Psychiatric Publishing; 2009.
  • Seeringer A, Kirchheiner J. Pharmacogenetics-guided dose modifications of antidepressants. Clin Lab Med. 2008 Dec;28(4):619-26. PubMed PMID: 19059066.
  • Kircheiner J, Brøsen K, Dahl ML, Gram LF, Kasper S, Roots I et al. CYP2D6 and CYP2C19 genotype-based dose recommendations for antidepressants: a first step towards subpopulation-specific dosages. Acta Psychiatr Scand. 2001 Sept;104(3):173-192. PubMed PMID: 11531654.
  • Goldstein JA, Ishizaki T, Chiba K, de Morais SM, Bell D, Krahn PM et al. Frequencies of the defective CYP2C19 alleles responsible for the mephenytoin poor metabolizer phenotype in various Oriental, Caucasian, Saudi Arabian and American black populations. Pharmacogenetics. 1997 Feb;7(1): 59-64. PubMed PMID: 9110363.
  • Brockmöller J, Kirchheiner J, Meisel C, Roots I. Pharmacogenetic diagnosis of cytochrome P450 polymorphisms in clinical drug development and in drug treatment. Pharmacogenetics. 2000 May;1(2):125-51. PubMed PMID: 11256586.
  • Blaisdell J, Mohrenweiser H, Jackson J, Ferguson S, Coulter S, Chanas B et al. Identification and functional characterization of new potentially defective alleles of human CYP2C19. Pharmacogenetics. 2002 Dec;12(9):703-11. PubMed PMID: 12464799.
  • Ibeanu GC, Goldstein JA, Meyer U, Benhamou S, Bouchardy C, Dayer P et al. Identification of new human CYP2C19 alleles (CYP2C19*6 and CYP2C19*2B) in a Caucasian poor metabolizer of mephenytoin. J Pharmacol Exp Ther. 1998 Sep;286(3):1490-5. PubMed PMID: 9732415.
  • Ibeanu GC, Blaisdell J, Ghanayem BI, Beyeler C, Benhamou S, Bouchardy C et al. An additional defective allele, CYP2C19*5, contributes to the S-mephenytoin poor metabolizer phenotype in Caucasians. Pharmacogenetics. 1998 Apr;8(2):129-35. PubMed PMID: 10022751.
  • Fukushima-Uesaka H, Saito Y, Maekawa K, Ozawa S, Hasegawa R, Kajio H et al. Genetic variations and haplotypes of CYP2C19 in a Japanese population. Drug Metab Pharmacokinet. 2005 Aug;20(4):300-7. PubMed PMID: 16141610.
  • Helsby NA. Pheno- or genotype for the CYP2C19 drug metabolism polymorphism: the influence of disease. Proc West Pharmacol Soc. 2008;51:5-10. PubMed PMID: 19544664.

Pharmacogenetic Testing / Cytochrome P-450 CYP2C9 and VKORC1 Genotyping

  • FDA.gov [Internet]. Silver Spring, MD: U.S. Food and Drug Administration; c2007 [updated 2013 Apr 10; cited 2013 Sep 3]. Available from: http://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/2007/ucm108967.htm
  • Anderson JL, Horne BD, Stevens SM, Grove AS, Barton S, Nicholas ZP. Randomized trial of genotype-guided versus standard warfarin dosing in patients initiating oral anticoagulation. Circulation. 2007;116(22):2563-70. PubMed PMID: 17989110.
  • The International Warfarin Pharmacogenetics Consortium, Klein TE, Altman RB, Eriksson N, Gage BF, Kimmel SE et al. Estimation of the warfarin dose with clinical and pharmacogenetic data. N Engl J Med. 2009 Feb 19;360(8):753-64. PubMed PMID: 19228618.
  • Gage B, Eby C, Johnson J, Deych E, Reider MJ, Ridker PM et al. Use of Pharmacogenetic and Clinical Factors to Predict the Therapeutic Dose of Warfarin. Clinical Pharmacology & Therapeutics. 2008 Sep; 84(3):326–31. PubMed PMID: 18305455.
  • Sconce EA, Khan TI, Wynne HA, Avery P, Monkhouse L, King BP et al. The impact of CYP2C9 and VKORC1 genetic polymorphism and patients characteristics upon warfarin dose requirements: proposal for a new dosing regimen. Blood. 2005 Oct 1;106(7):2329-33. PubMed PMID: 15947090.
  • Cypalleles.ki.se [Internet]. The Human Cytochrome P450 (CYP) Allele Nomenclature Database; c2013 [updated 2013 Apr 8; cited 2013 Sep 3]. Available from http://www.cypalleles.ki.se/cyp2c9.htm.
  • MedCo Research Institute. Warfarin Genotyping Reduces Hospitalization Rates, Including Those Due to Bleeding or Thromboembolism. 2010 Annual Scientific Sesssion of the American College of Cardiology; 2010 Mar 14-16; Atlanta, GA. Available from http://www.coyneclients.com/medco/medco_acc/links/medco_warfarin_clinical_brief.pdf
  • Moyer TP, O’Kane DJ, Baudhuin LM, Wiley CL, Fortini A, Fisher PK et al. Warfarin Sensitivity Genotyping: A Review of the Literature and Summary of Patient Experience. Mayo Clin Proc. 2009 Dec;84(12):1079-94. PubMed PMID: 19955245.
  • Lee CR, Goldstein JA, Pieper JA. Cytochrome P450 2C9 polymorphisms: a comprehensive review of the in-vitro and human data. Pharmacogenetics. 2002 Apr;12(3):251-63. PubMed PMID: 11927841.
  • Wynn GH, Oesterheld JR, Cozza KL, Armstrong SC. Clinical Manual of Drug Interaction Principles for Medical Practice. 1st ed. Arlington, VA: American Psychiatric Publishing; 2009.
  • Peyvandi F, Spreafico M, Siboni SM, Moia M, Mannucci PM. CYP2C9 genotypes and dose requirements during the induction phase of oral anticoagulation therapy. Clinical Pharmacology and Therapeutics. 2004 Mar; 75(3):198-203. PubMed PMID: 15001971.
  • Joffe HV, Johnson XR, Longtine J, Kucher N, Goldhaber SZ. Warfarin dosing and Cytochrome P450 2C9 polymorphisms. Thromb Haemost. 2004 Jun;91(6):1123-8. PubMed PMID: 15175798.
  • Brockmöller J, Kirchheiner J, Meisel C, Roots I. Pharmacogenetic diagnosis of cytochrome P450 polymorphisms in clinical drug development and in drug treatment. Pharmacogenetics. 2000 May;1(2):125-51. PubMed PMID: 11256586.
  • Aynacioglu AS, Brockmöller J, Bauer S, Sachse C, Güzelbey P, Ongen Z et al. Frequency of cytochrome P450 CYP2C9 variants in a Turkish population and functional relevance for phenytoin. Br J Clin Pharmacol. 1999 Sep; 48(3):409-15. PubMed PMID: 10510154.
  • Chang TK, Yu L, Maurel P, Waxman DJ. Enhanced cyclophosphamide and ifosfamide activation in primary human hepatocyte cultures: response to cytochrome P-450 inducers and autoinduction by oxazaphosphorines. Cancer Res. 1997 May 15;57(10):1946-54. PubMed PMID: 9157990.
  • Hamman MA, Thompson GA, Hall SD. Regioselective and stereoselective metabolism of ibuprofen by human cytochrome P450 2C. Biochem Pharmacol. 1997 Jul 1; 54(1):33-41. PubMed PMID: 9296349.
  • Ho PC, Abbott FS, Zanger UM, Chang TK. Influence of CYP2C9 genotypes on the formation of a hepatotoxic metabolite of valproic acid in human liver microsomes. Pharmacogenomics J. 2003; 3(6):335-42. PubMed PMID: 14597963.
  • Scordo MG, Aklillu E, Yasar U, Dahl ML, Spina E, Ingelman-Sundberg M et al. Genetic polymorphism of cytochrome P450 2C9 in a Caucasian and a black African population. Br J Clin Pharmacol. 2001 Oct; 52(4):447-450. PubMed PMID: 116787689.
  • Miners J. CYP2C9 polymorphism: impact on tolbutamide pharmacokinetics and response. Pharmacogenetics. 2002 Mar; 12(2):91-2. PubMed PMID: 11875362.
  • Dickmann LJ, Rettie AE, Kneller MB, Kim RB, Wood AJ, Stein CM et al. Identification and functional characterization of a new CYP2C9 variant (CYP2C9*5) expressed among African Americans. Mol Pharmacol. 2001 Aug;60(2):382-7. PubMed PMID: 11455026.
  • Kidd RS, Curry TB, Gallagher S, Edeki T, Blaisdell J, Goldstein JA. Identification of a null allele of CYP2C9 in an African-American exhibiting toxicity to phenytoin. Pharmacogenetics. 2001 Dec;11(9):803-8. PubMed PMID: 11740344.
  • Si D, Guo Y, Zhang Y, Yang L, Zhou H, Zhong D. Identification of a novel variant CYP2C9 allele in Chinese. Identification of a novel variant CYP2C9 allele in Chinese. Pharmacogenetics. 2004 Jul;14(7):465-9. PubMed PMID: 15226678.
  • Scott SA, Jaremko M, Lubitz SA, Kornreich R, Halperin JL, Desnick RJ. CYP2C9*8 is prevalent among African–Americans: implications for pharmacogenetic dosing. Pharmacogenomics. 2009 August; 10(8): 1243–1255. PubMed PMID: 19663669.

Pharmacogenetic Testing / Cytochrome P450 3A4 and 3A5 Genotyping

  • Elens L, van Gelder T, Hesselink DA, Haufroid V, van Schaik RH. CYP3A4*22: promising newly identified CYP3A4 variant allele for personalizing pharmacotherapy. Pharmacogenomics. 2013; 14(1):47-62. PubMed PMID: 23252948.
  • Kuehl P, Zhang J, Lin Y, Lamba J, Assem M, Schuetz J et al. Sequence diversity in CYP3A promoters and characterization of the genetic basis of polymorphic CYP3A5 expression. Nat Genet. 2001; 27(4), 383-91. PubMed PMID: 11279519.
  • Thelen K and Dressman JB. Cytochrome P450-mediated metabolism in the human gut wall. J Pharm Pharmacol. 2009 May;61(5):541-58. PubMed PMID: 19405992.
  • Paine MF, Hart HL, Ludington SS, Haining RL, Rettie AE, Zeldin DC. The human intestinal cytochrome P450 “pie”. Drug Metab Dispos. 2006 May;34(5):880-6. PubMed PMID: 16467132.
  • Zanger UM, Schwab M. Cytochrome P450 enzymes in drug metabolism: regulation of gene expression, enzyme activities, and impact of genetic variation. Pharmacol Ther. 2013 Apr;138(1):103-41. PubMed PMID: 233333322.
  • Kapelyukh Y, Paine MJ, Maréchal JD, Sutcliffe MJ, Wolf CR, Roberts GC. Multiple substrate binding by cytochrome P450 3A4: estimation of the number of bound substrate molecules. Drug Metab Dispos. 2008 Oct;36(10):2136-44. PubMed PMID: 18645035.
  • Shimada T, Yamazaki H, Mimura M, Inui Y, Guengerich FP. Interindividual variations in human liver cytochrome P-450 enzymes involved in the oxidation of drugs, carcinogens and toxic chemicals: studies with liver microsomes of 30 Japanese and 30 Caucasians. J Pharmacol Exp Ther. 1994 Jul;270(1):414-23. PubMed PMID: 8035341.
  • Provenzani A, Notarbartolo M, Labbozzetta M, Poma P, Vizzini G, Salis P et al. Influence of CYP3A5 and ABCB1 gene polymorphisms and other factors on tacrolimus dosing in Caucasian liver and kidney transplant patients. Int J Mol Med. 2011 Dec;28(6): 1093-102. PubMed PMID: 21922127.
  • Lee SJ, Usmani KA, Chanas B, Ghanayem B, Xi T, Hodgson E et al. Genetic findings and functional studies of human CYP3A5 single nucleotide polymorphisms in different ethnic groups. Pharmacogenetics. 2003; 13(8):461-72. PubMed PMID: 12893984.

Pharmacogenetic Testing / Cytochrome P-450 1A2 Genotyping

  • Chida M, Yokoi T, Fukui T, Kinoshita M, Yokota J, Kamataki T. Detection of three genetic polymorphisms in the 5′-flanking region and intron 1 of human CYP1A2 in the Japanese population. Jpn J Cancer Res. 1999 Sep;90(9):899-902. PubMed PMID: 10551315.
  • Basile VS, Masellis M, Potkin SG, Kennedy JL.Pharmacogenomics in schizophrenia: the quest for individualized therapy. Hum Mol Genet. 2002 Oct 1;11(20):2517-30. PubMed PMID: 12351588.
  • Wynn GH, Oesterheld JR, Cozza KL, Armstrong SC. Clinical Manual of Drug Interaction Principles for Medical Practice. 1st ed. Arlington, VA: American Psychiatric Publishing; 2009.
  • Eap CB, Bender S, Sirot EJ, Cucchia G, Jonzier-Perey M, Baumann P et al. Nonresponse to clozapine and ultrarapid CYP1A2 activity: clinical data and analysis of CYP1A2 gene. Clin Psychopharmacol. 2004 Apr;24(2):214-9. PubMed PMID: 15206669.
  • Aklillu E, Carrillo JA, Makonnen E, Hellman K, Pitargue M, Bertilsson L, Ingelman-Sundberg M. Genetic Polymorphism of CYP1A2 in Ethiopians Affecting Induction and Expression: Characterization of Novel Haplotypes with Single-Nucleotide Polymorphisms in Intron 1. Mol Pharmacol. 2003 Sep;64(3):659-69.
  • Faber MS, Fuhr U. Time response of cytochrome P450 1A2 activity on cessation of heavy smoking. Clin Pharmacol Ther. 2004 Aug;76(2):178-84. PubMed PMID: 15289794.
  • Granfors MT, Backman JT, Neuvonen M, Neuvonen PJ. Ciprofloxacin greatly increases concentrations and hypotensive effect of tizanidine by inhibiting its cytochrome P450 1A2-mediated presystemic metabolism. Clin Pharmacol Ther. 2004 Dec;76(6):598-606. PubMed PMID: 15592331.
  • Hamdy SI, Hiratsuka M, Narahara K, Endo N, El-Enany M, Moursi N et al. Genotyping of four genetic polymorphisms in the CYP1A2 gene in the Egyptian population. Br J Clin Pharmacol. 2003 Mar;55(3):321-4. PubMed PMID: 12630986.
  • Hong CC, Tang BK, Hammond GL, Tritchler D, Yaffe M, Boyd NF. Cytochrome P450 1A2 (CYP1A2) activity and risk factors for breast cancer: a cross-sectional study. Breast Cancer Res. 2004;6(4):R352-65. Epub 2004 May 07. PubMed PMID: 15217502.
  • Lewis DF, Lake BG, Dickins M. Substrates of human cytochromes P450 from families CYP1 and CYP2: analysis of enzyme selectivity and metabolism. Drug Metabol Drug Interact. 2004;20(3):111-42. PubMed PMID: 15508429.
  • Nakajima M, Yokoi T, Mizutani M, Kinoshita M, Funayama M, Kamataki T. Genetic polymorphism in the 5′-flanking region of human CYP1A2 gene: effect on the CYP1A2 inducibility in humans. J Biochem (Tokyo). 1999 Apr;125(4):803-8. PubMed PMID: 10101295.
  • Sachse C, Brockmoller J, Bauer S, Roots I. Functional significance of a C–>A polymorphism in intron 1 of the cytochrome P450 CYP1A2 gene tested with caffeine. Br J Clin Pharmacol. 1999 Apr;47(4):445-9. PubMed PMID: 10233211.
  • Solus JF, Arietta BJ, Harris JR, Sexton DP, Steward JQ, McMunn C et al. Genetic variation in eleven phase I drug metabolism genes in an ethnically diverse population. Pharmacogenomics. 2004 Oct;5(7):895-931. PubMed PMID: 15469410.

Pharmacogenetic Testing / NAT2 Genotyping

  • Brans R, Laizane D, Khan A, Blomeke B. N-acetyltransferase 2 genotyping: an accurate and feasible approach for simultaneous detection of the most common NAT2 alleles. Clin Chem. 2004 Jul;50(7):1264-6. PubMed PMID: 15229163.
  • Kinzig-Schippers M, Tomalik-Scharte D, Jetter A, Scheidel B, Jakob V, Rodamer M et al. Should we use N-acetyltransferase type 2 genotyping to personalize isoniazid doses? Antimicrob Agents Chemother. 2005 May;49(5):1733-8. PubMed PMID: 15855489.
  • Furet Y, Bechtel Y, Le Guellec C, Bechtel PR, Autret-Leca E, Paintaud G. Clinical relevance of N-acetyltransferase type 2 (NAT2) genetic polymorphism. Therapie. 2002 Sep-Oct;57(5):427-31. PubMed PMID: 12611196.
  • Tanaka E, Taniguchi A, Urano W, Nakajima H, Matsuda Y, Kitamura Y et al. Adverse effects of sulfasalazine in patients with rheumatoid arthritis are associated with diplotype configuration at the N-acetyltransferase 2 gene. J Rheumatol. 2002 Dec;29(12):2492-9. PubMed PMID: 124645141.
  • Blum M, Grant DM, McBride W, Heim M, Meyer UA. Human arylamine N-acetyltransferase genes: isolation, chromosomal localization, and functional expression. DNA Cell Biol. 1990 Apr;9(3):193-203. PubMed PMID: 2340091.
  • Bell DA, Taylor JA, Butler MA, Stephens EA, Wiest J, Brubaker LH et al. Genotype/phenotype discordance for human arylamine N-acetyltransferase (NAT2) reveals a new slow-acetylator allele common in African-Americans. Carcinogenesis. 1993 Aug;14(8):1689-92. PubMed PMID: 8102597.
  • Deguchi T, Mashimo M, Suzuki T. Correlation between acetylator phenotypes and genotypes of polymorphic arylamine N-acetyltransferase in human liver. J Biol Chem. 1990 Aug 5;265(22):12757-60. PubMed PMID: 2376572.
  • Vatsis KP, Martell KJ, Weber WW. Diverse point mutations in the human gene for polymorphic N-acetyltransferase. Proc Natl Acad Sci U S A. 1991 Jul 15;88(14):6333-7. PubMed PMID: 2068113.
  • Blum M, Demierre A, Grant DM, Heim M, Meyer UA. Molecular mechanism of slow acetylation of drugs and carcinogens in humans. Proc Natl Acad Sci U S A. 1991 Jun 15;88(12):5237-41. PubMed PMID: 1675794.
  • Hickman D, Sim E. N-acetyltransferase polymorphism. Comparison of phenotype and genotype in humans. Biochem Pharmacol. 1991 Aug 8;42(5):1007-14. PubMed PMID: 1872889.
  • Cascorbi I, Drakoulis N, Brockmöller J, Maurer A, Sperling K, Roots I. Arylamine N-acetyltransferase (NAT2) mutations and their allelic linkage in unrelated Caucasian individuals: correlation with phenotypic activity. Am J Hum Genet. 1995 Sep;57(3):581-92. PubMed PMID: 7668286.
  • Brockton N, Little J, Sharp L, Cotton SC. N-Acetyltransferase Polymorphisms and Colorectal Cancer: a HuGE review. Am J Epidemiol. 2000 May 1;151(9):846-61. PubMed PMID: 10791558.

Clinical Guidance / Cardiology

  • FDA.gov [Internet]. Silver Spring, MD: U.S. Food and Drug Administration; c2007 [updated 2013 Apr 10; cited 2013 Sep 3]. Available from: http://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/2007/ucm108967.htm
  • Anderson JL, Horne BD, Stevens SM, Grove AS, Barton S, Nicholas ZP et al. Randomized trial of genotype-guided versus standard warfarin dosing in patients initiating oral anticoagulation. Circulation 2007;116:2563-70. PubMed PMID: 17989110.
  • The International Warfarin Pharmacogenetics Consortium, Klein TE, Altman RB, Eriksson N, Gage BF, Kimmel SE et al. Estimation of the warfarin dose with clinical and pharmacogenetic data. N Engl J Med. 2009;360:753-64. PubMed PMID: 19228618.
  • Gage BF, Eby C, Johnson JA, Deych E, Rieder MJ, Ridker PM et al. Use of Pharmacogenetic and Clinical Factors to Predict the Therapeutic Dose of Warfarin. Clinical Pharmacology & Therapeutics. 2008: 84, 326–331. PubMed PMID: 18305455.
  • Sconce EA, Khan TI, Wynne HA, Avery P, Monkhouse L, King BP et al. The impact of CYP2C9 and VKORC1 genetic polymorphism and patients characteristics upon warfarin dose requirements: proposal for a new dosing regimen. Blood. 2005;106(7):2329-33. PubMed PMID: 15947090.
  • Cypalleles.ki.se [Internet]. The Human Cytochrome P450 (CYP) Allele Nomenclature Database; c2013 [updated 2013 Apr 8; cited 2013 Sep 3]. Available from http://www.cypalleles.ki.se/cyp2c9.htm.
  • MedCo Research Institute. Warfarin Genotyping Reduces Hospitalization Rates, Including Those Due to Bleeding or Thromboembolism. 2010 Annual Scientific Sesssion of the American College of Cardiology; 2010 Mar 14-16; Atlanta, GA. Available from http://www.coyneclients.com/medco/medco_acc/links/medco_warfarin_clinical_brief.pdf
  • Moyer TP, O’Kane DJ, Baudhuin LM, Wiley CL, Fortini A, Fisher PK et al. Warfarin Sensitivity Genotyping: A Review of the Literature and Summary of Patient Experience. Mayo Clin Proc. 2009 Dec;84(12):1079-94. PubMed PMID: 19955245.
  • Lee CR, Goldstein JA, Pieper JA. Cytochrome P450 2C9 polymorphisms: a comprehensive review of the in-vitro and human data. Pharmacogenetics. 2002; 12:251-263. PubMed PMID: 11927841.
  • Wynn GH, Oesterheld JR, Cozza KL, Armstrong SC. Clinical Manual of Drug Interaction Principles for Medical Practice. 1st ed. Arlington, VA: American Psychiatric Publishing; 2009.
  • Peyvandi F, Spreafico M, Siboni SM, Moia M, Mannucci PM. CYP2C9 genotypes and dose requirements during the induction phase of oral anticoagulation therapy. Clinical Pharmacology and Therapeutics. 2004 Mar; 75(3):198-203. PubMed PMID: 15001971.
  • Joffe HV, Johnson XR, Longtine J, Kucher N, Goldhaber SZ. Warfarin dosing and Cytochrome P450 2C9 polymorphisms. Thromb Haemost. 2004 Jun;91(6):1123-8. PubMed PMID: 15175798.
  • Brockmöller J, Kirchheiner J, Meisel C, Roots I. Pharmacogenetic diagnosis of cytochrome P450 polymorphisms in clinical drug development and in drug treatment. Pharmacogenetics. 2000 May;1(2):125-51. PubMed PMID: 11256586.
  • Aynacioglu AS, Brockmöller J, Bauer S, Sachse C, Güzelbey P, Ongen Z et al. Frequency of cytochrome P450 CYP2C9 variants in a Turkish population and functional relevance for phenytoin. Br J Clin Pharmacol 1999; 48(3):409-415. PubMed PMID: 10510154.
  • Chang TK, Yu L, Maurel P, Waxman DJ. Enhanced cyclophosphamide and ifosfamide activation in primary human hepatocyte cultures: response to cytochrome P-450 inducers and autoinduction by oxazaphosphorines. Cancer Res. 1997; 57(10):1946-54. PubMed PMID: 9157990.
  • Hamman MA, Thompson GA, Hall SD. Regioselective and stereoselective metabolism of ibuprofen by human cytochrome P450 2C. Biochem Pharmacol. 1997 Jul 1; 54(1):33-41. PubMed PMID: 9296349.
  • Ho PC, Abbott FS, Zanger UM, Chang TK. Influence of CYP2C9 genotypes on the formation of a hepatotoxic metabolite of valproic acid in human liver microsomes. Pharmacogenomics J. 2003; 3(6):335-42. PubMed PMID: 14597963.
  • Scordo MG, Aklillu E, Yasar U, Dahl ML, Spina E, Ingelman-Sundberg M. Genetic polymorphism of cytochrome P450 2C9 in a Caucasian and a black African population. Br J Clin Pharmacol. 2001; 52(4):447-450. PubMed PMID: 11678789.
  • Miners J. CYP2C9 polymorphism: impact on tolbutamide pharmacokinetics and response. Pharmacogenetics. 2002; 12(2):91-2. PubMed PMID: 11875362.
  • Linder MW, Looney S, Adams JE 3rd, Johnson N, Antonio-Green D, Lacefield N et al. Warfarin dose adjustments based on CYP2C9 genetic polymorphisms. J Thromb Thrombolysis. 2002 Dec;14(3):227-32. PubMed PMID: 12913403.
  • McClain MR, Palomaki GE, Piper M, Haddow JE. A rapid-ACCE review of CYP2C9 and VKORC1 alleles testing to inform warfarin dosing in adults at elevated risk for thrombotic events to avoid serious bleeding. Genet Med. 2008 Feb;10(2):89-98. PubMed PMID: 18281915.
  • Lee SJ, Usmani KA, Chanas B, Ghanayem B, Xi T, Hodgson E et al.: Genetic findings and functional studies of human CYP3A5 single nucleotide polymorphisms in different ethnic groups. Pharmacogenetics. 2003; 13(8):461-72.

Clinical Guidance / Dosing Recommendations

  • Linder MW, Valdes R Jr. Pharmacogenetics in the practice of laboratory medicine. Mol Diagn. 1999 Dec;4(4):365-79. Review. PMID: 10671647.
  • Chida M, Yokoi T, Fukui T, Kinoshita M, Yokata J, Kamataki T. Detection of three genetic polymorphisms in the 5’-flanking region and intron 1 of human CYP1A2 in the Japanese population. Jpn J Cancer Res. 1999 Sep;90(9):899-902. PubMed PMID: 1055131.
  • Sachse C, Brockmöller J, Bauer S, Roots I. Functional significance of a CA polymorphism in intron 1 of the cytochrome P450 CYP1A2 gene tested with caffeine. Br J Clin Pharmacol. 1999 Apr;47(4):445-9. PubMed PMID: 10233211.
  • Nakajima M, Yokoi T, Mizutani M, Kinoshita M, Funayama M, Kamataki T. Genetic polymorphism in the 5’-flanking region of human CYP1A2 gene: effect on the CYP1A2 inducibility in humans. J Biochem. 1999 Apr;125(4):803-8. PubMed PMID: 10101295.
  • Hamdy SI, Hiratsuka M, Narahara K, Endo N, El-Enany M, Moursi N et al. Genotyping of four genetic polymorphisms in the CYP1A2 gene in the Egyptian population. Br J Clin Pharmacol. 2003 Mar;55(3):321-4. PubMed PMID: 12630986.
  • Eap CB, Bender S, Jaquenoud Sirot E, Cucchia G, Jonzier-Perey M, Baumann P et al. Nonresponse to clozapine and ultrarapid CYP1A2 activity: clinical data and analysis of CYP1A2 gene. J Clin Psychopharmacol. 2004 Apr;24(2):214-9. PubMed PMID: 15206669.

Clinical Guidance / Geriatrics

  • Wynn GH, Oesterheld JR, Cozza KL, Armstrong SC. Clinical Manual of Drug Interaction Principles for Medical Practice. 1st ed. Arlington, VA: American Psychiatric Publishing; 2009.
  • Lazarou J, Pomeranz BH, Corey PN. Incidence of Adverse Drug Reactions in Hospitalized Patients: A Meta-analysis of Prospective Studies. JAMA. 1998;279(15):1200-1205.
  • Bernstein LR. The Cost of Drug-Related Problems Revisited. Medscape Pharmacists [Internet]. 2002 Apr 12 [cited 2013 Sep 3]. Available from: http://www.medscape.com/viewarticle/431686
  • Adverse Drug Effects in Ambulatory Elderly Patients – Reply. JAMA [Internet]. 2003 [cited 2013 Sep 3];289(24):3238. Available from: http://jama.ama-assn.org/cgi/content/full/289/24/3238
  • http://www.data360.org/dsg.aspx?Data_Set_Group_Id=466

Patients / Affected Drugs / Plavix

  • Mahlknecht U, Voelter-Mahlknecht. Pharmacogenomics: Questions and Concerns. Current Medical Research and Opinion [Internet]. 2005;21(7):1041-1047. Available from: http://www.medscape.com/viewarticle/508543_2
  • YouScript Cytochrome P450 Drug Table [Internet]. Seattle, WA: Genelex; c2013 [updated Sep 2013; cited Sep 2013]. Available from: http://youscript.com/healthcare-professionals/why-youscript/cytochrome-p450-drug-table/.
  • Simon T, Verstuyft C, Mary-Krause M, Quteineh L, Drouet E, Méneveau N et al. Genetic Determinants of Response to Clopidogrel and Cardiovascular Events. New Engl J Med. 2009 Jan 22;360(4):363-75. PubMed PMID: 19106083.
  • Mega JL, Close SL, Wiviott SD, Shen L, Hockett RD, Brandt JT et al. Cytochrome P-450 Polymorphisms and Response to Clopidogrel. New Engl J Med. 2009 Jan 22;360(4):354-362. PubMed PMID: 19106084.
  • Gladding P, White H, Voss J, Ormiston J, Stewart J, Ruygrok P et al. Pharmacogenetic Testing for Clopidogrel Using the Rapid INFINITI Analyzer: A Dose-Escalation Study. JACC Cardiovasc Interv. 2009 Nov;2(11):1095-1011. PubMed PMID: 19926050.

Patients / Affected Drugs / Warfarin

  • FDA.gov [Internet]. Silver Spring, MD: U.S. Food and Drug Administration; c2007 [updated 2013 Apr 10; cited 2013 Sep 3]. Available from: http://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/2007/ucm108967.htm
  • Anderson JL, Horne BD, Stevens SM, Grove AS, Barton S, Nicholas ZP et al. Randomized trial of genotype-guided versus standard warfarin dosing in patients initiating oral anticoagulation. Circulation. 2007;116:2563-70. PubMed PMID: 17989110.
  • The International Warfarin Pharmacogenetics Consortium, Klein TE, Altman RB, Eriksson N, Gage BF, Kimmel SE et al. Estimation of the warfarin dose with clinical and pharmacogenetic data. N Engl J Med. 2009 Feb 19;360:753-64. PubMed PMID: 19228618.
  • Gage B, Eby C, Johnson J, Deych E, Rieder MJ, Ridker PM et al. Use of Pharmacogenetic and Clinical Factors to Predict the Therapeutic Dose of Warfarin. Clinical Pharmacology & Therapeutics. 2008 Sep;84(3): 326–331. PubMed PMID: 18305455.
  • Sconce EA, Khan TI, Wynne HA, Avery P, Monkhouse L, King BP et al. The impact of CYP2C9 and VKORC1 genetic polymorphism and patients characteristics upon warfarin dose requirements: proposal for a new dosing regimen. Blood 2005;106(7):2329-33. PubMed PMID: 15947090.
  • Cypalleles.ki.se [Internet]. The Human Cytochrome P450 (CYP) Allele Nomenclature Database; c2013 [updated 2013 Apr 8; cited 2013 Sep 3]. Available from http://www.cypalleles.ki.se/cyp2c9.htm.
  • MedCo Research Institute. Warfarin Genotyping Reduces Hospitalization Rates, Including Those Due to Bleeding or Thromboembolism. 2010 Annual Scientific Sesssion of the American College of Cardiology; 2010 Mar 14-16; Atlanta, GA. Available from http://www.coyneclients.com/medco/medco_acc/links/medco_warfarin_clinical_brief.pdf
  • Moyer TP, O’Kane DJ, Baudhuin LM, Wiley CL, Fortini A, Fisher PK et al. Warfarin Sensitivity Genotyping: A Review of the Literature and Summary of Patient Experience. Mayo Clin Proc. December 2009;84(12):1079-1094. PubMed PMID: 19955245.
  • Lee CR, Goldstein JA, Pieper JA. Cytochrome P450 2C9 polymorphisms: a comprehensive review of the in-vitro and human data. Pharmacogenetics. 2002 Apr;12(3):251-263. PubMed PMID: 11927841.
  • Wynn GH, Oesterheld JR, Cozza KL, Armstrong SC. Clinical Manual of Drug Interaction Principles for Medical Practice. 1st ed. Arlington, VA: American Psychiatric Publishing; 2009.
  • Peyvandi F, Spreafico M, Siboni SM, Moia M and Mannucci PM. Cyp2C9 genotypes and dose requirements during the induction phase of oral anticoagulation therapy. Clinical Pharmacology and Therapeutics 2004; 75(3):198-203
  • Joffe HV, Johnson XR, Longtine J, Kucher N, Goldhaber SZ. Warfarin dosing and Cytochrome P450 2C9 polymorphisms. Thromb Haemost. 2004 Jun;91(6):1123-8. PubMed PMID: 15175798.
  • Brockmöller J, Kirchheiner J, Meisel C, Roots I. Pharmacogenetic diagnosis of cytochrome P450 polymorphisms in clinical drug development and in drug treatment. Pharmacogenetics. 2000 May;1(2):125-51. PubMed PMID: 11256586.
  • Aynacioglu AS, Brockmöller J, Bauer S, Sachse C, Güzelbey P, Ongen Z et al. Frequency of cytochrome P450 CYP2C9 variants in a Turkish population and functional relevance for phenytoin. Br J Clin Pharmacol. 1999; 48(3):409-415. PubMed PMID: 10510154.
  • Chang TK, Yu L, Maurel P, Waxman DJ. Enhanced cyclophosphamide and ifosfamide activation in primary human hepatocyte cultures: response to cytochrome P-450 inducers and autoinduction by oxazaphosphorines. Cancer Res. 1997; 57(10):1946-54. PubMed PMID: 9157990.
  • Hamman MA, Thompson GA, Hall SD. Regioselective and stereoselective metabolism of ibuprofen by human cytochrome P450 2C. Biochem Pharmacol. 1997;54(1):33-41. PubMed PMID: 9296349.
  • Ho PC, Abbott FS, Zanger UM, Chang TK. Influence of CYP2C9 genotypes on the formation of a hepatotoxic metabolite of valproic acid in human liver microsomes. Pharmacogenomics J. 2003; 3(6):335-42. PubMed PMID: 14597963.
  • Scordo MG, Aklillu E, Yasar U, Dahl ML, Spina E, Ingelman-Sundberg M. Genetic polymorphism of cytochrome P450 2C9 in a Caucasian and a black African population. Br J Clin Pharmacol. 2001 Oct; 52(4):447-450. PubMed PMID: 11678789.
  • Miners J. CYP2C9 polymorphism: impact on tolbutamide pharmacokinetics and response. Pharmacogenetics. 2002; 12(2):91-2. PubMed PMID: 11875362.

Patients / Affected Drugs / Tamoxifen

  • Schroth W, Goetz MP, Hamann U, Fasching PA, Schmidt M, Winter S et al. Association between CYP2D6 polymorphisms and outcomes among women with early stage breast cancer treated with tamoxifen. JAMA. 2009 Oct 7;302(13):1429-36. PubMed PMID: 19809024.
  • Goetz MP, Knox SK, Suman VJ, Rae JM, Safgren SL, Ames MM et al. The impact of Cytochrome P450 2D6 metabolism in women receiving adjuvant tamoxifen. Breast Cancer Res Treat. 2007 Jan;101(1): 113-21. PubMed PMID: 17115111.
  • Borges S, Desta Z, Li L, Skaar TC, Ward BA, Nguyen A et al. Quantitative effect of CYP2D6 genotype and inhibitors on tamoxifen metabolism: implication for optimization of breast cancer treatment. Clin Pharmacol Ther. 2006;80(1):61-74. PubMed PMID: 16815318.

Patients / Affected Drugs / Irinotecan

  • Innocenti F, Undevia SD, Iyer L, Chen PX, Das S, Kocherginsky M et al. Genetic variants in the UDP-glucuronosyltransferase 1A1 gene predict the risk of severe neutropenia of irinotecan. J Clin. Oncol. 2004;22(8):1382-8. PubMed PMID: 15007088.
  • Beutler E, Gelbart T, Demina A. Racial variablitiy in the UDP-glucuronosyltransferase 1 (UGT1A1) promoter: a balanced polymorphism for regulation of bilirubin metabolism? Proc Natl Acad Sci USA. 1998;95:8170-4. PubMed PMID: 9653159.
  • http://www.rxlist.com/cgi/generic2/irinot_ids.htm

Patients / Affected Drugs / Strattera

  • Mahlknecht U, Voelter-Mahlknecht. Pharmacogenomics: Questions and Concerns. Current Medical Research and Opinion [Internet]. 2005;21(7):1041-1047. Available from: http://www.medscape.com/viewarticle/508543_2
  • Lazarou J, Pomeranz BH, Corey PN. Incidence of adverse drug reactions in hospitalized patients: a meta-analysis of prospective studies. JAMA. 1998 Apr 15;279(15):1200-5. PubMed PMID: 9555760.
  • FDA.gov [Internet]. Silver Spring, MD: U.S. Food and Drug Administration; c2002 [updated 2009 Jun; cited 2013 Sep 3]. Available from: http://www.accessdata.fda.gov/drugsatfda_docs/label/2009/021411s029s030lbl.pdf

Patients / Conditions / Depression

  • Mahlknecht U, Voelter-Mahlknecht. Pharmacogenomics: Questions and Concerns. Current Medical Research and Opinion [Internet]. 2005;21(7):1041-1047. Available from: http://www.medscape.com/viewarticle/508543_2
  • Aynacioglu AS, Brockmöller J, Bauer S, Sachse C, Güzelbey P, Ongen Z et al. Frequency of cytochrome P450 CYP2C9 variants in a Turkish population and functional relevance for phenytoin. Br J Clin Pharmacol. 1999 Sep; 48(3):409-15. PubMed PMID: 10510154.
  • Scordo MG, Aklillu E, Yasar U, Dahl ML, Spina E, Ingelman-Sundberg M. Genetic polymorphism of cytochrome P450 2C9 in a Caucasian and a black African population. Br J Clin Pharmacol. 2001;52(4):447-450. PubMed PMID: 11678789.
  • Goldstein JA, Ishizaki T, Chiba K, de Morais SM, Bell D, Krahn PM et al. Frequencies of the defective CYP2C19 alleles responsible for the mephenytoin poor metabolizer phenotype in various Oriental, Caucasian, Saudi Arabian and American black populations. Pharmacogenetics. 1997 Feb;7(1):59-64. PubMed PMID: 9110363.
  • Blaisdell J, Mohrenweiser H, Jackson J, Ferguson S, Coulter S, Chanas B et al. Identification and functional characterization of new potentially defective alleles of human CYP2C19. Pharmacogenetics. 2002 Dec;12(9):703-11. PubMed PMID: 12464799.
  • Ibeanu GC, Goldstein JA, Meyer U, Benhamou S, Bouchardy C, Dayer P et al. Identification of new human CYP2C19 alleles (CYP2C19*6 and CYP2C19*2B) in a Caucasian poor metabolizer of mephenytoin. J Pharmacol Exp Ther. 1998 Sep;286(3):1490-5. PubMed PMID: 9732415.
  • Ibeanu GC, Blaisdell J, Ghanayem BI, Beyeler C, Benhamou S, Bouchardy C et al. An additional defective allele, CYP2C19*5, contributes to the S-mephenytoin poor metabolizer phenotype in Caucasians. Pharmacogenetics. 1998 Apr;8(2):129-35. PubMed PMID: 10022751.
  • De Morais SM, Wilkinson GR, Blaisdell J, Nakamura K, Meyer UA, Goldstein JA. The major genetic defect responsible for the polymorphism of S-mephenytoin metabolism in humans. J Biol Chem. 1994 Jun 3;269(22):15419-22. PubMed PMID: 8195181.
  • Ferguson RJ, De Morais SM, Benhamou S, Bouchardy C, Blaisdell J, Ibeanu G et al. A new genetic defect in human CYP2C19: mutation of the initiation codon is responsible for poor metabolism of S-mephenytoin. J Pharmacol Exp Ther.1998 Jan;284(1):356-61. PubMed PMID: 9435198.
  • Xiao ZS, Goldstein JA, Xie HG, Blaisdell J, Wang W, Jiang CH et al. Differences in the incidence of the CYP2C19 polymorphism affecting the S-mephenytoin phenotype in Chinese Han and Bai populations and identification of a new rare CYP2C19 mutant allele. J Pharmacol Exp Ther.1997 Apr;281(1):604-9. PubMed PMID: 9103550.
  • Wynn GH, Oesterheld JR, Cozza KL, Armstrong SC. Clinical Manual of Drug Interaction Principles for Medical Practice. 1st ed. Arlington, VA: American Psychiatric Publishing; 2009.
  • Kirchheiner J, Rodriguez-Antona C. Cytochrome P450 2D6 genotyping: potential role in improving treatment outcomes in psychiatric disorders. CNS Drugs. 2009;23(3):181-91. PubMed PMID: 19320528.
  • Seeringer A, Kirchheiner J. Pharmacogenetics-guided dose modifications of antidepressants. Clin Lab Med. 2008 Dec;28(4):619-26. PubMed PMID: 19059066.
  • Kirchheiner J, Nickchen K, Bauer M, Wong ML, Licinio J, Roots I et al. Pharmacogenetics of antidepressants and antipsychotics: the contribution of allelic variations to the phenotype of drug response. Molecular Psychiatry. 2004;9(5):442-73. PubMed PMID: 15037866.
  • Cascorbi I, Drakoulis N, Brockmöller J, Maurer A, Sperling K, Roots I. Arylamine N-acetyltransferase (NAT2) mutations and their allelic linkage in unrelated Caucasian individuals: correlation with phenotypic activity. Am J Hum Genet. 1995 Sep;57(3):581-92. PubMed PMID: 7668286.

Patients / Conditions / Heart Disease

  • Mahlknecht U, Voelter-Mahlknecht. Pharmacogenomics: Questions and Concerns. Current Medical Research and Opinion [Internet]. 2005;21(7):1041-1047. Available from: http://www.medscape.com/viewarticle/508543_2
  • Aynacioglu AS, Brockmöller J, Bauer S, Sachse C, Güzelbey P, Ongen Z et al. Frequency of cytochrome P450 CYP2C9 variants in a Turkish population and functional relevance for phenytoin. Br J Clin Pharmacol 1999; 48(3):409-415. PubMed PMID: 10510154.
  • Scordo MG, Aklillu E, Yasar U, Dahl ML, Spina E, Ingelman-Sundberg M. Genetic polymorphism of cytochrome P450 2C9 in a Caucasian and a black African population. Br J Clin Pharmacol. 2001; 52(4):447-450. PubMed PMID: 11678789.
  • Goldstein JA, Ishizaki T, Chiba K, de Morais SM, Bell D, Krahn PM et al. Frequencies of the defective CYP2C19 alleles responsible for the mephenytoin poor metabolizer phenotype in various Oriental, Caucasian, Saudi Arabian and American black populations. Pharmacogenetics. 1997 Feb; 7(1): 59-64. PubMed PMID: 9110363.
  • Blaisdell J, Mohrenweiser H, Jackson J, Ferguson S, Coulter S, Chanas B et al. Identification and functional characterization of new potentially defective alleles of human CYP2C19. Pharmacogenetics. 2002 Dec;12(9):703-11. PubMed PMID: 12464799.
  • Ibeanu GC, Goldstein JA, Meyer U, Benhamou S, Bouchardy C, Dayer P et al. Identification of new human CYP2C19 alleles (CYP2C19*6 and CYP2C19*2B) in a Caucasian poor metabolizer of mephenytoin. J Pharmacol Exp Ther. 1998 Sep;286(3):1490-5. PubMed PMID: 9732415.
  • Ibeanu GC, Blaisdell J, Ghanayem BI, Beyeler C, Benhamou S, Bouchardy C et al. An additional defective allele, CYP2C19*5, contributes to the S-mephenytoin poor metabolizer phenotype in Caucasians. Pharmacogenetics.1998 Apr;8(2):129-35. PubMed PMID: 10022751.
  • De Morais SM, Wilkinson GR, Blaisdell J, Nakamura K, Meyer UA, Goldstein JA. The major genetic defect responsible for the polymorphism of S-mephenytoin metabolism in humans. J Biol Chem. 1994 Jun 3;269(22):15419-22. PubMed PMID: 8195181.
  • Ferguson RJ, De Morais SM, Benhamou S, Bouchardy C, Blaisdell J, Ibeanu G et al. A new genetic defect in human CYP2C19: mutation of the initiation codon is responsible for poor metabolism of S-mephenytoin. J Pharmacol Exp Ther. 1998 Jan;284(1):356-61. PubMed PMID: 9435198.
  • Xiao ZS, Goldstein JA, Xie HG, Blaisdell J, Wang W, Jiang CH et al. Differences in the incidence of the CYP2C19 polymorphism affecting the S-mephenytoin phenotype in Chinese Han and Bai populations and identification of a new rare CYP2C19 mutant allele. J Pharmacol Exp Ther. 1997 Apr;281(1):604-9. PubMed PMID: 9103550.
  • Wynn GH, Oesterheld JR, Cozza KL, Armstrong SC. Clinical Manual of Drug Interaction Principles for Medical Practice. 1st ed. Arlington, VA: American Psychiatric Publishing; 2009.
  • Zhou SF. Polymorphism of human cytochrome P450 2D6 and its clinical significance: Part I. Clin Pharmacokinet. 2009;48(11):689-723. PubMed PMID: 19817501.
  • Zanger UM, Raimundo S, Eichelbaum M. Cytochrome P450 2D6: overview and update on pharmacology, genetics, biochemistry. Naunyn Schmiedebergs Arch Pharmacol. 2004 Jan;369(1):23-37. PubMed PMID: 14618296.

Patients / Conditions /Cancer

  • Mahlknecht U, Voelter-Mahlknecht. Pharmacogenomics: Questions and Concerns. Current Medical Research and Opinion [Internet]. 2005;21(7):1041-1047. Available from: http://www.medscape.com/viewarticle/508543_2
  • Aynacioglu AS, Brockmöller J, Bauer S, Sachse C, Güzelbey P, Ongen Z et al. Frequency of cytochrome P450 CYP2C9 variants in a Turkish population and functional relevance for phenytoin. Br J Clin Pharmacol 1999; 48(3):409-415. PubMed PMID: 10510154.
  • Scordo MG, Aklillu E, Yasar U, Dahl ML, Spina E, Ingelman-Sundberg M. Genetic polymorphism of cytochrome P450 2C9 in a Caucasian and a black African population. Br J Clin Pharmacol. 2001; 52(4):447-450. PubMed PMID: 11678789.
  • Goldstein JA, Ishizaki T, Chiba K, de Morais SM, Bell D, Krahn PM et al. Frequencies of the defective CYP2C19 alleles responsible for the mephenytoin poor metabolizer phenotype in various Oriental, Caucasian, Saudi Arabian and American black populations. Pharmacogenetics. 1997 Feb;7(1):59-64. PubMed PMID: 9110363.
  • Blaisdell J, Mohrenweiser H, Jackson J, Ferguson S, Coulter S, Chanas B et al. Identification and functional characterization of new potentially defective alleles of human CYP2C19. Pharmacogenetics. 2002 Dec;12(9):703-11. PubMed PMID: 12464799.
  • Ibeanu GC, Goldstein JA, Meyer U, Benhamou S, Bouchardy C, Dayer P et al. Identification of new human CYP2C19 alleles (CYP2C19*6 and CYP2C19*2B) in a Caucasian poor metabolizer of mephenytoin. J Pharmacol Exp Ther. 1998 Sep;286(3):1490-5. PubMed PMID: 9732415.
  • Ibeanu GC, Blaisdell J, Ghanayem BI, Beyeler C, Benhamou S, Bouchardy C et al. An additional defective allele, CYP2C19*5, contributes to the S-mephenytoin poor metabolizer phenotype in Caucasians. Pharmacogenetics.1998 Apr;8(2):129-35. PubMed PMID: 10022751.
  • De Morais SM, Wilkinson GR, Blaisdell J, Nakamura K, Meyer UA, Goldstein JA. The major genetic defect responsible for the polymorphism of S-mephenytoin metabolism in humans. J Biol Chem. 1994 Jun 3;269(22):15419-22. PubMed PMID: 8195181.
  • Ferguson RJ, De Morais SM, Benhamou S, Bouchardy C, Blaisdell J, Ibeanu G et al. A new genetic defect in human CYP2C19: mutation of the initiation codon is responsible for poor metabolism of S-mephenytoin. J Pharmacol Exp Ther. 1998 Jan;284(1):356-61. PubMed PMID: 9435198.
  • Xiao ZS, Goldstein JA, Xie HG, Blaisdell J, Wang W, Jiang CH et al. Differences in the incidence of the CYP2C19 polymorphism affecting the S-mephenytoin phenotype in Chinese Han and Bai populations and identification of a new rare CYP2C19 mutant allele. J Pharmacol Exp Ther. 1997 Apr;281(1):604-9. PubMed PMID: 9103550.
  • Wynn GH, Oesterheld JR, Cozza KL, Armstrong SC. Clinical Manual of Drug Interaction Principles for Medical Practice. 1st ed. Arlington, VA: American Psychiatric Publishing; 2009.
  • Schroth W, Goetz MP, Hamann U, Fasching PA, Schmidt M, Winter S et al. Association between CYP2D6 polymorphisms and outcomes among women with early stage breast cancer treated with tamoxifen. JAMA. 2009 Oct 7;302(13):1429-36. PubMed PMID: 19809024.
  • Goetz MP, Knox SK, Suman VJ, Rae JM, Safgren SL, Ames MM et al. The impact of Cytochrome P450 2D6 metabolism in women receiving adjuvant tamoxifen. Breast Cancer Res Treat. 2007;101(1):113-21. PubMed PMID: 17115111.
  • Borges S, Desta Z, Li L, Skaar TC, Ward BA, Nguyen A et al. Quantitative effect of CYP2D6 genotype and inhibitors on tamoxifen metabolism: implication for optimization of breast cancer treatment. Clin Pharmacol Ther. 2006;80(1):61-74. PubMed PMID: 16815318.
  • Zhou SF. Polymorphism of human cytochrome P450 2D6 and its clinical significance: Part I. Clin Pharmacokinet. 2009;48(11):689-723. PubMed PMID: 19817501.
  • Zanger UM, Raimundo S, Eichelbaum M. Cytochrome P450 2D6: overview and update on pharmacology, genetics, biochemistry. Naunyn Schmiedebergs Arch Pharmacol. 2004 Jan;369(1):23-37. PubMed PMID: 14618296.

Patients / Conditions / Pain

  • Mahlknecht U, Voelter-Mahlknecht. Pharmacogenomics: Questions and Concerns. Current Medical Research and Opinion [Internet]. 2005;21(7):1041-1047. Available from: http://www.medscape.com/viewarticle/508543_2
  • Foster A, Mobley E, Wang Z. Complicated pain management in a CYP450 2D6 poor metabolizer. Pain Pract. 2007 Dec;7(4):352-6. PubMed PMID: 17986163.
  • Gan SH, Ismail R, Wan Adnan WA, Zulmi W. Impact of CYP2D6 genetic polymorphism on tramadol pharmacokinetics and pharmacodynamics. Mol Diagn Ther. 2007;11(3):171-81. PubMed PMID: 17570739.
  • Kirchheiner J, Keulen JT, Bauer S, Roots I, Brockmöller J. Effects of the CYP2D6 gene duplication on the pharmacokinetics and pharmacodynamics of tramadol. J Clin Psychopharmacol. 2008 Feb;28(1):78-83. PubMed PMID: 18204346.
  • Stamer UM, Stüber F, Muders T, Musshoff F. Respiratory depression with tramadol in a patient with renal impairment and CYP2D6 gene duplication. Anesth Analg. 2008 Sep;107(3):926-9. PubMed PMID: 18713907.
  • Coller JK, Christrup LL, Somogyi AA. Role of active metabolites in the use of opioids. Eur J Clin Pharmacol. 2009 Feb;65(2):121-39. PubMed PMID: 18958460.\Medscape Medical News. Pharmacogenomics and TDM may Decrease Adverse Drug Reactions. MedScape [Internet]. 2007 Feb 13 [cited 2013 Sep 3]. Available from: http://www.medscape.com/viewarticle/552096
  • Cozza KL, Armstrong SC, Oesterheld JR (2003) Drug Interaction principles for Medical Practice. American Psychiatric Publishing Inc.
  • Zhou SF. Polymorphism of human cytochrome P450 2D6 and its clinical significance: Part I. Clin Pharmacokinet. 2009;48(11):689-723. PubMed PMID: 19817501.
  • Zanger UM, Raimundo S, Eichelbaum M. Cytochrome P450 2D6: overview and update on pharmacology, genetics, biochemistry. Naunyn Schmiedebergs Arch Pharmacol. 2004 Jan;369(1):23-37. PubMed PMID: 14618296.

Patients / Conditions / Diabetes

  • Mahlknecht U, Voelter-Mahlknecht. Pharmacogenomics: Questions and Concerns. Current Medical Research and Opinion [Internet]. 2005;21(7):1041-1047. Available from: http://www.medscape.com/viewarticle/508543_2
  • Aynacioglu AS, Brockmöller J, Bauer S, Sachse C, Güzelbey P, Ongen Z et al. Frequency of cytochrome P450 CYP2C9 variants in a Turkish population and functional relevance for phenytoin. Br J Clin Pharmacol 1999; 48(3):409-415. PubMed PMID: 10510154.
  • Scordo MG, Aklillu E, Yasar U, Dahl ML, Spina E, Ingelman-Sundberg M. Genetic polymorphism of cytochrome P450 2C9 in a Caucasian and a black African population. Br J Clin Pharmacol. 2001; 52(4):447-450. PubMed PMID: 11678789.
  • Goldstein JA, Ishizaki T, Chiba K, de Morais SM, Bell D, Krahn PM et al. Frequencies of the defective CYP2C19 alleles responsible for the mephenytoin poor metabolizer phenotype in various Oriental, Caucasian, Saudi Arabian and American black populations. Pharmacogenetics. 1997 Feb;7(1):59-64. PubMed PMID: 9110363.
  • Blaisdell J, Mohrenweiser H, Jackson J, Ferguson S, Coulter S, Chanas B et al. Identification and functional characterization of new potentially defective alleles of human CYP2C19. Pharmacogenetics. 2002 Dec;12(9):703-11. PubMed PMID: 12464799.
  • Ibeanu GC, Goldstein JA, Meyer U, Benhamou S, Bouchardy C, Dayer P et al. Identification of new human CYP2C19 alleles (CYP2C19*6 and CYP2C19*2B) in a Caucasian poor metabolizer of mephenytoin. J Pharmacol Exp Ther. 1998 Sep;286(3):1490-5. PubMed PMID: 9732415.
  • Ibeanu GC, Blaisdell J, Ghanayem BI, Beyeler C, Benhamou S, Bouchardy C et al. An additional defective allele, CYP2C19*5, contributes to the S-mephenytoin poor metabolizer phenotype in Caucasians. Pharmacogenetics.1998 Apr;8(2):129-35. PubMed PMID: 10022751.
  • De Morais SM, Wilkinson GR, Blaisdell J, Nakamura K, Meyer UA, Goldstein JA. The major genetic defect responsible for the polymorphism of S-mephenytoin metabolism in humans. J Biol Chem. 1994 Jun 3;269(22):15419-22. PubMed PMID: 8195181.
  • Ferguson RJ, De Morais SM, Benhamou S, Bouchardy C, Blaisdell J, Ibeanu G et al. A new genetic defect in human CYP2C19: mutation of the initiation codon is responsible for poor metabolism of S-mephenytoin. J Pharmacol Exp Ther. 1998 Jan;284(1):356-61. PubMed PMID: 9435198.
  • Xiao ZS, Goldstein JA, Xie HG, Blaisdell J, Wang W, Jiang CH et al. Differences in the incidence of the CYP2C19 polymorphism affecting the S-mephenytoin phenotype in Chinese Han and Bai populations and identification of a new rare CYP2C19 mutant allele. J Pharmacol Exp Ther. 1997 Apr;281(1):604-9. PubMed PMID: 9103550.

Patients / Conditions / Epilepsy

  • Mahlknecht U, Voelter-Mahlknecht. Pharmacogenomics: Questions and Concerns. Current Medical Research and Opinion [Internet]. 2005;21(7):1041-1047. Available from: http://www.medscape.com/viewarticle/508543_2
  • Aynacioglu AS, Brockmöller J, Bauer S, Sachse C, Güzelbey P, Ongen Z et al. Frequency of cytochrome P450 CYP2C9 variants in a Turkish population and functional relevance for phenytoin. Br J Clin Pharmacol 1999; 48(3):409-415. PubMed PMID: 10510154.
  • Scordo MG, Aklillu E, Yasar U, Dahl ML, Spina E, Ingelman-Sundberg M. Genetic polymorphism of cytochrome P450 2C9 in a Caucasian and a black African population. Br J Clin Pharmacol. 2001; 52(4):447-450. PubMed PMID: 11678789.
  • Goldstein JA, Ishizaki T, Chiba K, de Morais SM, Bell D, Krahn PM et al. Frequencies of the defective CYP2C19 alleles responsible for the mephenytoin poor metabolizer phenotype in various Oriental, Caucasian, Saudi Arabian and American black populations. Pharmacogenetics. 1997 Feb;7(1):59-64. PubMed PMID: 9110363.
  • Blaisdell J, Mohrenweiser H, Jackson J, Ferguson S, Coulter S, Chanas B et al. Identification and functional characterization of new potentially defective alleles of human CYP2C19. Pharmacogenetics. 2002 Dec;12(9):703-11. PubMed PMID: 12464799.
  • Ibeanu GC, Goldstein JA, Meyer U, Benhamou S, Bouchardy C, Dayer P et al. Identification of new human CYP2C19 alleles (CYP2C19*6 and CYP2C19*2B) in a Caucasian poor metabolizer of mephenytoin. J Pharmacol Exp Ther. 1998 Sep;286(3):1490-5. PubMed PMID: 9732415.
  • Ibeanu GC, Blaisdell J, Ghanayem BI, Beyeler C, Benhamou S, Bouchardy C et al. An additional defective allele, CYP2C19*5, contributes to the S-mephenytoin poor metabolizer phenotype in Caucasians. Pharmacogenetics.1998 Apr;8(2):129-35. PubMed PMID: 10022751.
  • De Morais SM, Wilkinson GR, Blaisdell J, Nakamura K, Meyer UA, Goldstein JA. The major genetic defect responsible for the polymorphism of S-mephenytoin metabolism in humans. J Biol Chem. 1994 Jun 3;269(22):15419-22. PubMed PMID: 8195181.
  • Ferguson RJ, De Morais SM, Benhamou S, Bouchardy C, Blaisdell J, Ibeanu G et al. A new genetic defect in human CYP2C19: mutation of the initiation codon is responsible for poor metabolism of S-mephenytoin. J Pharmacol Exp Ther. 1998 Jan;284(1):356-61. PubMed PMID: 9435198.
  • Xiao ZS, Goldstein JA, Xie HG, Blaisdell J, Wang W, Jiang CH et al. Differences in the incidence of the CYP2C19 polymorphism affecting the S-mephenytoin phenotype in Chinese Han and Bai populations and identification of a new rare CYP2C19 mutant allele. J Pharmacol Exp Ther. 1997 Apr;281(1):604-9. PubMed PMID: 9103550.

Patients / Conditions / HIV

  • Mahlknecht U, Voelter-Mahlknecht. Pharmacogenomics: Questions and Concerns. Current Medical Research and Opinion [Internet]. 2005;21(7):1041-1047. Available from: http://www.medscape.com/viewarticle/508543_2
  • Aynacioglu AS, Brockmöller J, Bauer S, Sachse C, Güzelbey P, Ongen Z et al. Frequency of cytochrome P450 CYP2C9 variants in a Turkish population and functional relevance for phenytoin. Br J Clin Pharmacol 1999; 48(3):409-415. PubMed PMID: 10510154.
  • Scordo MG, Aklillu E, Yasar U, Dahl ML, Spina E, Ingelman-Sundberg M. Genetic polymorphism of cytochrome P450 2C9 in a Caucasian and a black African population. Br J Clin Pharmacol. 2001; 52(4):447-450. PubMed PMID: 11678789.
  • Goldstein JA, Ishizaki T, Chiba K, de Morais SM, Bell D, Krahn PM et al. Frequencies of the defective CYP2C19 alleles responsible for the mephenytoin poor metabolizer phenotype in various Oriental, Caucasian, Saudi Arabian and American black populations. Pharmacogenetics. 1997 Feb;7(1):59-64. PubMed PMID: 9110363.
  • Blaisdell J, Mohrenweiser H, Jackson J, Ferguson S, Coulter S, Chanas B et al. Identification and functional characterization of new potentially defective alleles of human CYP2C19. Pharmacogenetics. 2002 Dec;12(9):703-11. PubMed PMID: 12464799.
  • Ibeanu GC, Goldstein JA, Meyer U, Benhamou S, Bouchardy C, Dayer P et al. Identification of new human CYP2C19 alleles (CYP2C19*6 and CYP2C19*2B) in a Caucasian poor metabolizer of mephenytoin. J Pharmacol Exp Ther. 1998 Sep;286(3):1490-5. PubMed PMID: 9732415.
  • Ibeanu GC, Blaisdell J, Ghanayem BI, Beyeler C, Benhamou S, Bouchardy C et al. An additional defective allele, CYP2C19*5, contributes to the S-mephenytoin poor metabolizer phenotype in Caucasians. Pharmacogenetics.1998 Apr;8(2):129-35. PubMed PMID: 10022751.
  • De Morais SM, Wilkinson GR, Blaisdell J, Nakamura K, Meyer UA, Goldstein JA. The major genetic defect responsible for the polymorphism of S-mephenytoin metabolism in humans. J Biol Chem. 1994 Jun 3;269(22):15419-22. PubMed PMID: 8195181.
  • Ferguson RJ, De Morais SM, Benhamou S, Bouchardy C, Blaisdell J, Ibeanu G et al. A new genetic defect in human CYP2C19: mutation of the initiation codon is responsible for poor metabolism of S-mephenytoin. J Pharmacol Exp Ther. 1998 Jan;284(1):356-61. PubMed PMID: 9435198.
  • Xiao ZS, Goldstein JA, Xie HG, Blaisdell J, Wang W, Jiang CH et al. Differences in the incidence of the CYP2C19 polymorphism affecting the S-mephenytoin phenotype in Chinese Han and Bai populations and identification of a new rare CYP2C19 mutant allele. J Pharmacol Exp Ther. 1997 Apr;281(1):604-9. PubMed PMID: 9103550.
  • Cozza KL, Armstrong SC, Oesterheld JR (2003) Drug Interaction principles for Medical Practice. American Psychiatric Publishing Inc.
  • Zhou SF. Polymorphism of human cytochrome P450 2D6 and its clinical significance: Part I. Clin Pharmacokinet. 2009;48(11):689-723. PubMed PMID: 19817501.
  • Zanger UM, Raimundo S, Eichelbaum M. Cytochrome P450 2D6: overview and update on pharmacology, genetics, biochemistry. Naunyn Schmiedebergs Arch Pharmacol. 2004 Jan;369(1):23-37. PubMed PMID: 14618296.

Patients / Conditions /Acid Reflux & Ulcers

  • Mahlknecht U, Voelter-Mahlknecht. Pharmacogenomics: Questions and Concerns. Current Medical Research and Opinion [Internet]. 2005;21(7):1041-1047. Available from: http://www.medscape.com/viewarticle/508543_2
  • YouScript Cytochrome P450 Drug Table [Internet]. Seattle, WA: Genelex; c2013 [updated Sep 2013; cited Sep 2013]. Available from: http://youscript.com/healthcare-professionals/why-youscript/cytochrome-p450-drug-table/.
  • Aynacioglu AS, Brockmöller J, Bauer S, Sachse C, Güzelbey P Ongen Z et al. Frequency of cytochrome P450 CYP2C9 variants in a Turkish population and functional relevance for phenytoin. Br J Clin Pharmacol. 1999 Sep; 48(3):409-415. PubMed PMID: 10510154.
  • Scordo MG, Aklillu E, Yasar U, Dahl ML, Spina E, Ingelman-Sundberg M. Genetic polymorphism of cytochrome P450 2C9 in a Caucasian and a black African population. Br J Clin Pharmacol. 2001 Oct; 52(4):447-450. PubMed PMID: 11678789.
  • Goldstein JA, Ishizaki T, Chiba K, de Morais SM, Bell D, Krahn PM et al. Frequencies of the defective CYP2C19 alleles responsible for the mephenytoin poor metabolizer phenotype in various Oriental, Caucasian, Saudi Arabian and American black populations. Pharmacogenetics. 1997 Feb;7(1):59-64. PubMed PMID: 9110363.
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