Haplotype structures of EPHX1 and their effects on the metabolism of carbamazepine-10,11-epoxide in Japanese epileptic patients

European Journal of Clinical Pharmacology

Volumn 61, Issue 1, 2005, Pages 25-34

  Nakajima, Yukiko ^a   Saito, Yoshiro ^a   Shiseki, Kisho ^a   Fukushima Uesaka, Hiromi ^a   Hasegawa, Ryuichi ^a   Ozawa, Shogo ^a   Sugai, Kenji ^b   Katoh, Masaaki ^b   Saitoh, Osamu ^b   Ohnuma, Teiichi ^b   Kawai, Mitsuru ^b   Ohtsuki, Taisuke ^b   Suzuki, Chieko ^b   Minami, Narihiro ^b,c   Kimura, Hideo ^c   Goto, Yu Ichi ^c   Kamatani, Naoyuki ^d   Kaniwa, Nahoko ^a   Sawada, Jun Ichi ^a  

^a NATIONAL INSTITUTE OF HEALTH SCIENCES   (Japan)

^b NATIONAL INSTITUTE OF MENTAL HEALTH   (Japan)

^c NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^d TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

Author keywords

Carbamazepine metabolism; EPHX1 polymorphism; Haplotype analysis

Indexed keywords

10,11 DIHYDRO 10,11 DIHYDROXYCARBAMAZEPINE; 2 HYDROXYCARBAMAZEPINE; 3 HYDROXYCARBAMAZEPINE; CARBAMAZEPINE; CARBAMAZEPINE 10,11 OXIDE; DRUG METABOLITE; EPOXIDE HYDROLASE; PHENOBARBITAL; PHENYTOIN; PROTEIN; PROTEIN EPHX1; UNCLASSIFIED DRUG; VALPROIC ACID;

ADOLESCENT; ADULT; AGED; ARTICLE; CONTROLLED STUDY; DNA EXTRACTION; DNA SEQUENCE; DRUG METABOLISM; ENZYME ACTIVITY; EPILEPSY; EXON; FEMALE; GENE STRUCTURE; HAPLOTYPE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; HUMAN CELL; INTRON; JAPAN; LEUKOCYTE; MAJOR CLINICAL STUDY; MALE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; ADULT; AGED; CARBAMAZEPINE; CHILD; EPILEPSY; EPOXIDE HYDROLASES; FEMALE; HAPLOTYPES; HUMANS; JAPAN; MALE; MIDDLE AGED; PHARMACOGENETICS; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC;

EID: 20244388394     PISSN: 00316970     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00228-004-0878-1     Document Type: Article

References (25)

1. Weinshilboum R (2003) Inheritance and drug response. N Engl J Med 348:529-537
2. Hassett C, Aicher L, Sidhu JS, Omiecinski CJ (1994) Human microsomal epoxide hydrolase: genetic polymorphism and functional expression in vitro of amino acid variants. Hum Mol Genet 3:421-428
3. Maekawa K, Itoda M, Hanioka N, Saito Y, Murayama N, Nakajima O, Soyama A, Ishida S, Ozawa S, Ando M, Sawada J (2003) Non-synonymous single nucleotide alterations in the microsomal epoxide hydrolase gene and their functional effects. Xenobiotica 33:277-287
4. Tomson T, Tybring G, Bertilsson L (1983) Single-dose kinetics and metabolism of carbamazepine-10,11-epoxide. Clin Pharmacol Ther 33:58-65
5. Kitteringham NR, Davis C, Howard N, Pirmohamed M, Park BK (1996) Interindividual and interspecies variation in hepatic microsomal epoxide hydrolase activity: studies with cis-stilbene oxide, carbamazepine 10,11-epoxide and napthalene. J Pharmacol Exp Ther 278:1018-1027
6. Kitamura Y, Moriguch M, Kaneko H, Morisaki H, Morisaki T, Toyama K, Kamatani N (2002) Determination of probability distribution of diplotype configuration (diplotype distribution) for each subject from genotypic data using the EM algorithm. Ann Hum Genet 66:183-193
7. Seidegard J, DePierre JW (1983) Microsomal epoxide hydrolase. Properties, regulation and function. Biochim Biophys Acta 695:251-270
8. Fretland AJ, Omiecinski CJ (2000) Epoxide hydrolases: biochemistry and molecular biology. Chem Biol Interact 129:41-59
9. Laurenzana EM, Hassett C, Omiecinski CJ (1998) Post-transcriptional regulation of human microsomal epoxide hydrolase. Pharmacogenetics 8:157-167
10. Mandrioli R, Albani F, Casamenti G, Sabbioni C, Raggi M (2001) Simultaneous high-performance liquid chromatography determination of carbamazepine and five of its metabolites in plasma of epileptic patients. J Chromatogr B 762:109-116
11. Raggi MA, Pucci V, Maurizio A, Muzikar J, Kenndler E (2002) Separation of carbamazepine and five metabolites, and analysis in human plasma by micellar electrokinetic capillary chromatography. J Chromatogr B 770:217-225
12. Judson R, Stephens JC, Windemuth A (2000) The predictive power of haplotypes in clinical response. Pharmacogenomics 1:15-26
13. Zhang K, Calabrese P, Nordborg M, Sun F (2002) Haplotype block structure and its applications to association studies: power and study designs. Am J Hum Genet 71:1386-1394
14. Yoshikawa M, Hiyama K, Ishioka S, Maeda H, Maeda A, Yamakido M (2000) Microsomal epoxide hydrolase genotypes and chronic obstructive pulmonary disease in Japanese. Int J Mol Med 51:49-53
15. Shen LX, Basilion JP, Stanton VP Jr (1999) Single-nucleotide polymorphisms can cause different structural folds of mRNA. Proc Natl Acad Sci U S A 96:7871-7876
16. Duan J, Wainwright MS, Comeron JM, Saitou N, Sanders AR, Gelernter J, Gejman PV (2003) Synonymous mutations in the human dopamine receptor D2 (DRD2) affect mRNA stability and synthesis of the receptor. Hum Mol Genet 12:205-216
17. Frittitta L, Ercolino T, Bozzali M, Argiolas A, Graci S, Santagati MG, Spampinato D, Di Paola R, Cisternino C, Tassi V, Vigneri R, Pizzuti A, Trischitta V (2001) A cluster of three single nucleotide polymorphisms in the 3′-untranslated region of human glycoprotein PC-1 gene stabilizes PC-1 mRNA and is associated with increased PC-1 protein content and insulin resistance-related abnormalities. Diabetes 50:1952-1955
18. Spina E, Martines C, Fazio A, Trio R, Pisani F, Tomson T (1991) Effect of phenobarbital on the pharmacokinetics of carbamazepine-10,11-epoxide, an active metabolite of carbamazepine. Ther Drug Monit 13:109-112
19. Kroetz DL, Kerr BM, McFarland LV, Loiseau P, Wilensky AJ, Levy RH (1993) Measurement of in vivo microsomal epoxide hydrolase activity in white subjects. Clin Pharmacol Ther 53:306-315
20. Pisani F, Fazio A, Oteri G, Spina E, Perucca E, Bertilsson L (1988) Effect of valpromide on the pharmacokinetics of carbamazepine-10,11-epoxide. Br J Clin Pharmacol 25:611-613
21. Bertilsson L, Tomson T (1986) Clinical pharmacokinetics and pharmacological effects of carbamazepine and carbamazepine-10,11-epoxide. An update. Clin Pharmacokinet 11:177-198
22. Green VJ, Pirmohamed M, Kitteringham NR, Gaedigk A, Grant DM, Boxer M, Burchell B, Park BK (1995) Genetic analysis of microsomal epoxide hydrolase in patients with carbamazepine hypersensitivity. Biochem Pharmacol 50:1353-1359
23. Shiseki K, Itoda M, Saito Y, Nakajima Y, Maekawa K, Kimura H, Goto Y, Saitoh O, Katoh M, Ohnuma T, Kawai M, Sugai K, Ohtsuki T, Suzuki C, Minami N, Ozawa S, Sawada J (2003) Five novel single nucleotide polymorphisms in the EPHX1 gene encoding microsomal epoxide hydrolase. Drug Metab Pharmacokinet 18:150-153
24. Gaedigk A, Spielberg SP, Grant DM (1994) Characterization of the microsomal epoxide hydrolase gene in patients with anticonvulsant adverse drug reactions. Pharmacogenetics 4:142-153
25. Saito S, Iida A, Sekine A, Eguchi C, Miura Y, Nakamura Y (2001) Seventy genetic variations in human microsomal and soluble epoxide hydrolase genes (EPHX1 and EPHX2) in the Japanese population. J Hum Genet 46:325-329