Search for the molecular basis of ultra-rapid CYP2C9-catalysed metabolism: Relationship between SNP IVS8-109A>T and the losartan metabolism phenotype in Swedes

European Journal of Clinical Pharmacology

Volumn 68, Issue 7, 2012, Pages 1033-1042

  Hatta, Fazleen H M ^a,b   Teh, Lay Kek ^b   Helldén, Anders ^a   Hellgren, Karin Engström ^a   Roh, Hyung Keun ^c   Salleh, Mohd Zaki ^b   Aklillu, Eleni ^a   Bertilsson, Leif ^a  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^b UNIVERSITI TEKNOLOGI MARA   (Malaysia)

^c Gachon University College of Medicine   (South Korea)

Author keywords

CYP2C9; Haplotypes; Koreans; Losartan; Metabolic ratio; Phenytoin ultra rapid metaboliser; Swedes

Indexed keywords

CYTOCHROME P450 2C9; LOSARTAN;

ADULT; ALLELE; ARTICLE; CATALYSIS; CONTROLLED STUDY; CYP2C9 GENE; DNA EXTRACTION; DRUG METABOLISM; ENZYME ACTIVITY; ETHNIC DIFFERENCE; ETHNIC GROUP; FEMALE; GENE; GENETIC ASSOCIATION; GENETIC MARKER; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; INTRON; MALE; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; NORMAL HUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN METABOLISM; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SINGLE NUCLEOTIDE POLYMORPHISM; SWEDEN;

ADULT; ALLELES; ARYL HYDROCARBON HYDROXYLASES; ASIAN CONTINENTAL ANCESTRY GROUP; DATA INTERPRETATION, STATISTICAL; EUROPEAN CONTINENTAL ANCESTRY GROUP; EXONS; HAPLOTYPES; HUMANS; INTRONS; LOSARTAN; MALE; METABOLIC DETOXICATION, PHASE I; PHENOTYPE; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; POLYMORPHISM, SINGLE NUCLEOTIDE; REPUBLIC OF KOREA; SWEDEN; YOUNG ADULT;

EID: 84864288321     PISSN: 00316970     EISSN: 14321041     Source Type: Journal    
DOI: 10.1007/s00228-012-1210-0     Document Type: Article

References (29)

1. Evans WE, Relling MV (1999) Pharmacogenomics: translating functional genomics into rational therapeutics. Science 286:487-491
2. Rettie AE, Jone JP (2005) Clinical and toxicological relevance of CYP2C9: drug-drug interactions and pharmacogenetics. Annu Rev Pharmacol Toxicol 45:477-494 (Pubitemid 40267790)
3. Lahoz A, Donato MT, Montero S, Castell JV, Gómez-Lechón MJ (2008) A new in vitro approach for the simultaneous determination of phase I and phase II enzymatic activities of human hepatocyte preparations. Rapid Commun Mass Spectrom 22(2):240-244 (Pubitemid 351156137)
4. Goldstein JA, Blaisdell JA, Limdi NA (2009) A potentially deleterious new CYP2C9 polymorphism identified in an African American patient with major hemorrhage on warfarin therapy. Blood Cells Mol Dis 42(2):155-158
5. Yasar U, Tybring G, Hidestrand M, Oscarson M, Ingelman-Sundberg M, Dahl M, Eliasson E (2001) Role of CYP2C9 polymorphism in losartan oxidation. Drug Metab Dispos 29(7):1051-1056 (Pubitemid 32605922)
6. Babaoglu MO, Yasar SM, Eliasson E, Dahl MJ, Kayaalp OS, Bozkurt A (2004) CYP2C9 genetic variants and losartan oxidation in a Turkish population. Eur J Clin Pharmacol 60:337-342 (Pubitemid 39066253)
7. Veenstra DL, Blough DK, Higashi MK, Farin FM, Srinouanprachan S, Rieder MJ, Rettie AE (2005) CYP2C9 Haplotype structure in European American warfarin patients and association with clinical outcomes. Clin Pharm Ther 77:353-364 (Pubitemid 40719264)
8. Kealey C, Chen Z, Christie J, Thorn CF, Whitehead AS, Price M, Samaha FF, Kimmel SE (2007) Warfarin and cytochrome P450 2C9 genotype: possible ethnic variation in warfarin sensitivity. Pharmacogenomics 8(3):217-225 (Pubitemid 46477733)
9. Ngow H, The LK, Langmia IM, LeeWL HarunR, Ismail R, Salleh MZ (2008) The role of pharmacodiagnostic of CYP2C9 variants in optimization of warfarin therapy in Malaysia: A 6-month followup study. Xenobiotica 38(6):641-651 (Pubitemid 351882973)
10. *2 allele alters interaction of the cytochrome P450 with NADPHcytochrome P450 oxidoreductase. Pharmacogenetics 7(3):203-210 (Pubitemid 27290634)
11. Sullivan-Klose TH, Ghanayem BI, Bell DA, Zhang ZY, Kaminsky LS, Shenfield GM, Miners JO, Birkett DJ, Goldstein JA (1996) The role of the CYP2C9-Leu359 allelic variant in thetolbutamide polymorphism. Pharmacogenetics 6(4):341-349 (Pubitemid 26288624)
12. Aithal GP, Day CP, Kesteven PJ, Daly AK (1999) Association of polymorphisms in the cytochrome P450 CYP2C9 with warfarin dose requirement and risk of bleeding complications. Lancet 353:717-719 (Pubitemid 29103806)
13. Meyer UA (2000) Pharmacogenetics and adverse drug reactions. Lancet 356:1667-1671
14. Pirmohamed M, Park BK (2001) Genetic susceptibility to adverse drug reactions. Trends Pharmacol Sci 22(6):298-305 (Pubitemid 32523913)
15. Helldén A, Bergman U, Hellgren KE, Masquelier M, Remahl IN, Odar-Cederlöf I, Ramsjö M, Bertilsson L (2010) Fluconazoleinduced intoxication with phenytoin in a patient with ultra-high activity of CYP2C9. Eur J Clin Pharmacol 66:791-795
16. Christensen M, Andersson K, Dalén P, Mirghani RA, Muirhead GJ, Nordmark A, Tybring G, Wahlberg A, Yaşar U, Bertilsson L (2003) The Karolinska cocktail for phenotyping of five human cytochrome P450 enzymes. Clin Pharmacol Ther 73 (6):517-528 (Pubitemid 37249122)
17. Rosemary J, Adithan C (2007) The Pharmacogenetics of CYP2C9 and CYP2C19: Ethnic variation and clinical significance. Curr Clin Pharmacol 2:93-109 (Pubitemid 46729082)
18. Mosher CM, Tai G, Rettie AE (2009) CYP2C9 Amino acid residues influencing phenytoin turnover and metabolite regio- and stereochemistry. J Pharmacol Exp Ther 293(3):938-944
19. Ramsjö M, Aklillu E, Bohman L, Ingelman-Sundberg M, Roh HK, Bertilsson L (2010) CYP2C19 activity comparison between Swedes and Koreans: effect of genotype, sex, oral contraceptive use, and smoking. Eur J Clin Pharmacol 66(9):871-877
20. Diczfalusy U, Miura J, Roh HK, Mirghani RA, Sayi J, Larsson H, Bodin KG, Allqvist A, Jande M, Kim JW, Aklillu E, Gustafsson LL, Bertilsson L (2008) 4Beta-hydroxycholesterol is a new endogenous CYP3A marker: relationship to CYP3A5 genotype, quinine 3-hydroxylation and sex in Koreans, Swedes and Tanzanians. Pharmacogenet Genomics 18(3):201-208 (Pubitemid 351323234)
21. Ghotbi R, Christensen M, Roh HK, Ingelman-Sundberg M, Aklillu E, Bertilsson L (2007) Comparisons of CYP1A2 genetic polymorphisms, enzyme activity and the genotype-phenotype relationship in Swedes and Koreans. Eur J Clin Pharmacol 63 (6):537-546 (Pubitemid 46684487)
22. Barrett JC, Fry B, Maller J, Daly MJ (2005) Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21 (2):263-265 (Pubitemid 40202029)
23. Maekawa K, Fukushima-Uesaka H, Tohkin M, Hasegawa R, Kajio H, Kuzuya N, Yasuda K, Kawamoto M, Kamatani N, Suzuki K, Yanagawa T, Saito Y, Sawada J (2006) Four novel defective alleles and comprehensive haplotype analysis of CYP2C9 in Japanese. Pharmacogenet Genomics 16:497-514 (Pubitemid 43922347)
24. Kimchi-Sarfaty C, Oh JM, Kim IW, Sauna ZE, Calcagno AM, Ambudkar SV, Gottesman MM (2007) A "silent" polymorphism in the MDR1 gene changes substrate specificity. Science 315:525
25. Baskin B, Banwell B, Al Khater R, Hawkins C, Ray PN (2009) Becker muscular dystrophy caused by an intronic mutation reducing the efficiency of the splice donor site of intron 26 of the dystrophin gene. Neuromuscul Disord 19:189-192
26. Grasela TH, Sheiner LB, Rambeck B, Boenigk HE, Dunlop A, Mullen PW, Wadsworth J, Richens A, Ishizake T, Chiba K, Miura H, Minagawa K, Blain PG, Mucklow JC, Bacon CT, Rawlins M (1983) Steady-state pharmacokinetics of phenytoin from routinely collected patient data. Clin Pharmacokinet 8:355-364 (Pubitemid 13069552)
27. Solus JF et al (2004) Genetic variation in eleven phase I drug metabolism genes in an ethnically diverse population. Pharmacogenomics 5(7):895-931 (Pubitemid 39386756)
28. Lee SJ, Jang YJ, Cha EY, Kim HS, Lee SS, Shin JG (2010) A Haplotype of CYP2C9 Associated with warfarin sensitivity in mechanical heart valve replacement patients. Br J Clin Pharmacol 70 (2):213-221
29. Blaisdell J, Jorge-Nebert LF, Coulter S, Ferguson SS, Lee SJ, Chanas B, Xi T, Mohrenweiser H, Ghanayem B, Goldstein JA (2004) Discovery of new potentially defective alleles of human CYP2C9. Pharmacogenetics 14:527-537 (Pubitemid 39106854)