Polymorphisms of drug-metabolizing enzymes CYP2C9, CYP2C19, CYP2D6, CYP1A1, NAT2 and of P-glycoprotein in a Russian population

European Journal of Clinical Pharmacology

Volumn 59, Issue 4, 2003, Pages 303-312

  Gaikovitch, Elena A ^a,b   Cascorbi, Ingolf ^c   Mrozikiewicz, Przemyslaw M ^a   Brockmöller, Jürgen ^d   Frötschl, Roland ^a   Köpke, Karla ^a   Gerloff, Thomas ^a   Chernov, Jury N ^b   Roots, Ivar ^a  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b VORONEZH STATE MEDICAL UNIVERSITY NAMED AFTER N N BURDENKO   (Russian Federation)

^c UNIVERSITY OF GREIFSWALD   (Germany)

^d UNIVERSITY OF GÖTTINGEN   (Germany)

Author keywords

CYP; Cytochrome P450; Haplotypes; MDR1; NAT2; Russians

Indexed keywords

ARYLAMINE ACETYLTRANSFERASE; CYTOCHROME P450; DRUG METABOLIZING ENZYME; FLUORESCENT DYE; GLYCOPROTEIN P;

ACETYLATION; ADOLESCENT; ADULT; AGED; ALLELE; ARTICLE; ETHNIC DIFFERENCE; EXON; FEMALE; GENE MUTATION; GENETIC CODE; GENOTYPE; HAPLOTYPE; HUMAN; HUMAN CELL; INTRON; MALE; METABOLISM; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RUSSIAN FEDERATION; SINGLE NUCLEOTIDE POLYMORPHISM; XENOBIOTIC METABOLISM;

ADOLESCENT; ADULT; AGED; ARYL HYDROCARBON HYDROXYLASES; ARYLAMINE N-ACETYLTRANSFERASE; CYTOCHROME P-450 CYP1A1; CYTOCHROME P-450 CYP2D6; CYTOCHROME P-450 ENZYME SYSTEM; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENE FREQUENCY; GENOTYPE; HUMANS; MALE; MIDDLE AGED; MIXED FUNCTION OXYGENASES; P-GLYCOPROTEIN; POLYMORPHISM, GENETIC; RUSSIA;

EID: 0041410075     PISSN: 00316970     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00228-003-0606-2     Document Type: Article

References (51)

1. Meisel C, Roots I, Cascorbi I, Brinkmann U, Brockmöller J (2000) How to manage individualized drug therapy: application of pharmacogenetic knowledge of drug metabolism and transport. Clin Chem Lab Med 38:869-876
2. Nebert DW (2000) Drug-metabolizing enzymes, polymorphisms and interindividual response to environmental toxicants. Clin Chem Lab Med 38:857-861
3. Sachse C, Brockmöller J, Bauer S, Roots I (1997) Cytochrome P450 2D6 variants in a Caucasian population: allele frequencies and phenotypic consequences. Am J Hum Genet 60:284-295
4. Dahl ML, Johansson I, Bertilsson L, Ingelman Sundberg M, Sjöqvist F (1995) Ultrarapid hydroxylation of debrisoquine in a Swedish population. Analysis of the molecular genetic basis. J Pharmacol Exp Ther 274:516-520
5. Aklillu E, Persson I, Bertilsson L, Johansson I, Rodrigues F, Ingelman-Sundberg M (1996) Frequent distribution of ultrarapid metabolizers of debrisoquine in an ethiopian population carrying duplicated and multiduplicated functional CYP2D6 alleles. J Pharmacol Exp Ther 278:441-446
6. Aynacioglu AS, Sachse C, Bozkurt A, Kortunay S, Nacak M, Schroder T, Kayaalp SO, Roots I, Brockmöller J (1999) Low frequency of defective alleles of cytochrome P450 enzymes 2C19 and 2D6 in the Turkish population. Clin Pharmacol Ther 66:185-192
7. McLellan RA, Oscarson M, Seidegard J, Evans DA, Ingelman-Sundberg M (1997) Frequent occurrence of CYP2D6 gene duplication in Saudi Arabians. Pharmacogenetics 7:187-191
8. Aynacioglu AS, Brockmöller J, Bauer S, Sachse C, Guzelbey P, Ongen Z, Nacak M, Roots I (1999) Frequency of cytochrome P450 CYP2C9 variants in a Turkish population and functional relevance for phenytoin. Br J Clin Pharmacol 48:409-415
9. Kimura M, Ieiri I, Mamiya K, Urae A, Higuchi S (1998) Genetic polymorphism of cytochrome P450 s, CYP2C19, and CYP2C9 in a Japanese population. Ther Drug Monit 20:243-247
10. Wang SL, Huang J, Lai MD, Tsai JJ (1995) Detection of CYP2C9 polymorphism based on the polymerase chain reaction in Chinese. Pharmacogenetics 5:37-42
11. Xie HG, Stein CM, Kim RB, Wilkinson GR, Flockhart DA, Wood AJ (1999) Allelic, genotypic and phenotypic distributions of S-mephenytoin 4′-hydroxylase (CYP2C19) in healthy Caucasian populations of European descent throughout the world. Pharmacogenetics 9:539-549
12. Cascorbi I, Brockmöller J, Roots I (1996) A C4887A polymorphism in exon 7 of human CYP1A1: population frequency, mutation linkages, and impact on lung cancer susceptibility. Cancer Res 56:4965-4969
13. Mrozikiewicz PM, Cascorbi I, Brockmöller J, Roots I (1997) CYP1A1 mutations 4887A, 4889G, 5639C and 6235C in the Polish population and their allelic linkage, determined by peptide nucleic acid-mediated PCR clamping. Pharmacogenetics 7:303-307
14. Inoue K, Asao T, Shimada T (2000) Ethnic-related differences in the frequency distribution of genetic polymorphisms in the CYP1A1 and CYP1B1 genes in Japanese and Caucasian populations. Xenobiotica 30:285-295
15. Cascorbi I, Drakoulis N, Brockmöller J, Maurer A, Sperling K, Roots I (1995) Arylamine N-acetyltransferase (NAT2) mutations and their allelic linkage in unrelated Caucasian individuals: correlation with phenotypic activity. Am J Hum Genet 57:581-592
16. Mrozikiewicz PM, Cascorbi I, Brockmöller J, Roots I (1996) Determination and allelic allocation of seven nucleotide transitions within the arylamine N-acetyltransferase gene in the Polish population. Clin Pharmacol Ther 59:376-382
17. Aynacioglu AS, Cascorbi I, Mrozikiewicz PM, Roots I (1997) Arylamine N-acetyltransferase (NAT2) genotypes in a Turkish population. Pharmacogenetics 7:327-331
18. Lee EJ, Zhao B, Seow-Choen F (1998) Relationship between polymorphism of N-acetyltransferase gene and susceptibility to colorectal carcinoma in a Chinese population. Pharmacogenetics 8:513-517
19. Hoffmeyer S, Burk O, von Richter O, Arnold HP, Brockmöller J, Johne A, Cascorbi I, Gerloff T, Roots I, Eichelbaum M, Brinkmann U (2000) Functional polymorphisms of the human multidrug-resistance gene: multiple sequence variations and correlation of one allele with P-glycoprotein expression and activity in vivo. Proc Natl Acad Sci U S A 97:3473-3478
20. Cascorbi I, Gerloff T, Johne A, Meisel C, Hoffmeyer S, Schwab M, Schaeffeler E, Eichelbaum M, Brinkmann U, Roots I (2001) Frequency of single nucleotide polymorphisms in the P-glycoprotein drug transporter MDR1 gene in white subjects. Clin Pharmacol Ther 69:169-174
21. Johne A, Kopke K, Gerloff T, Mai I, Rietbrock S, Meisel C, Hoffmeyer S, Kerb R, Fromm MF, Brinkmann U, Eichelbaum M, Brockmoller J, Cascorbi I, Roots I (2002) Modulation of steady-state kinetics of digoxin by haplotypes of the P-glycoprotein MDR1 gene. Clin Pharmacol Ther 72:584-594
22. Schaeffeler E, Eichelbaum M, Brinkmann U, Penger A, Asante-Poku S, Zanger UM, Schwab M (2001) Frequency of C3435T polymorphism of MDR1 gene in African people. Lancet 358:383-384
23. Ito S, Ieiri I, Tanabe M, Suzuki A, Higuchi S, Otsubo K (2001) Polymorphism of the ABC transporter genes, MDR1, MRP1 and MRP2/cMOAT, in healthy Japanese subjects. Pharmacogenetics 11:175-184
24. Ameyaw MM, Regateiro F, Li T, Liu X, Tariq M, Mobarek A, Thornton N, Folayan GO, Githang'a J, Indalo A, Ofori-Adjei D, Price-Evans DA, McLeod HL (2001) MDR1 pharmacogenetics: frequency of the C3435T mutation in exon 26 is significantly influenced by ethnicity. Pharmacogenetics 11:217-221
25. Marandi T, Dahl ML, Rago L, Kiivet R, Sjöqvist F (1997) Debrisoquine and S-mephenytoin hydroxylation polymorphisms in a Russian population living in Estonia. Eur J Clin Pharmacol 53:257-260
26. Duzhak T, Mitrofanov D, Ostashevskii V, Gutkina N, Chasovnikova O, Posukh O, Osipova L, Lyakhovich VV (2000) Genetic polymorphisms of CYP2D6, CYP1A1, GSTM1 and p53 genes in a unique Siberian population of Tundra Nentsi. Pharmacogenetics 10:531-537
27. Cascorbi I, Ackermann E, Sachse C, Brockmöller J, Roots I (1998) A novel CYP2C9 intron 2 T/C transition and linkage to mutations Leu359 and Cys144 (abstract). Clin Pharmacol Ther 63:198
28. de Morais SM, Wilkinson GR, Blaisdell J, Nakamura K, Meyer UA, Goldstein JA (1994) The major genetic defect responsible for the polymorphism of S-mephenytoin metabolism in humans. J Biol Chem 269:15419-15422
29. Borlak J, Thum T (2002) Identification of major CYP2C9 and CYP2C19 polymorphisms by fluorescence resonance energy transfer analysis. Clin Chem 48:1592-1594
30. Smart J, Daly AK (2000) Variation in induced CYP1A1 levels: relationship to CYP1A1, Ah receptor and GSTM1 polymorphisms. Pharmacogenetics 10:11-24
31. Leff MA, Fretland AJ, Doll MA, Hein DW (1999) Novel human N-acetyltransferase 2 alleles that differ in mechanism for slow acetylator phenotype. J Biol Chem 274:34519-34522
32. Hein D (2002) Molecular genetics and function of NAT1 and NAT2: role in aromatic amine metabolism and carcinogenesis. Mutat Res 65:506-507
33. Blömeke B, Sieben S, Spotter D, Landt O, Merk HF (1999) Identification of N-acetyltransferase 2 genotypes by continuous monitoring of fluorogenic hybridization probes. Anal Biochem 275:93-97
34. Oselin K, Gerloff T, Mrozikiewicz PM, Pähkla R, Roots I (2003) MDR1 polymorphisms G2677T in exon 21 and C3435T in exon 26 fail to affect rhodamine 123 efflux in peripheral blood lymphocytes. Fundam Clin Pharmacol 17:1-7
35. Rohde K, Fuerst R (2001) Haplotyping and estimation of haplotype frequencies for closely linked biallelic multilocus genetic phenotypes including nuclear family information. Hum Mutat 17:289-295
36. Cascorbi I, Brockmöller J, Bauer S, Reum T, Roots I (1996) NAT2*12A (803A → G) codes for rapid arylamine N-acetylation in humans. Pharmacogenetics 6:257-259
37. 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
38. Kirchheiner J, Bauer S, Meineke I, Rohde W, Prang V, Meisel C, Roots I, Brockmöller J (2002) Impact of CYP2C9 and CYP2C19 polymorphisms on tolbutamide kinetics and the insulin and glucose response in healthy volunteers. Pharmacogenetics 12:101-109
39. Kirchheiner J, Meineke I, Freytag G, Meisel C, Roots I, Brockmöller J (2002) Enantiospecific effects of cytochrome P450 2C9 amino acid variants on ibuprofen pharmacokinetics and on the inhibition of cyclooxygenases 1 and 2. Clin Pharmacol Ther 72:62-75
40. Miners JO, Birkett DJ (1998) Cytochrome P4502C9: an enzyme of major importance in human drug metabolism. Br J Clin Pharmacol 45:525-538
41. Lee CR, Goldstein JA, Pieper JA (2002) Cytochrome P450 2C9 polymorphisms: a comprehensive review of the in-vitro and human data. Pharmacogenetics 12:251-263
42. Yasar U, Eliasson E, Dahl ML, Johansson I, Ingelman-Sundberg M, Sjoqvist F (1999) Validation of methods for CYP2C9 genotyping: frequencies of mutant alleles in a Swedish population. Biochem Biophys Res Commun 254:628-631
43. Rost KL, Roots I (1996) Nonlinear kinetics after high-dose omeprazole caused by saturation of genetically variable CYP2C19. Hepatology 23:1491-1497
44. Bathum L, Skjelbo E, Mutabingwa TK, Madsen H, Horder M, Brøsen K (1999) Phenotypes and genotypes for CYP2D6 and CYP2C19 in a black Tanzanian population. Br J Clin Pharmacol 48:395-401
45. Xie HG (2000) Genetic variations of S-mephenytoin 4′-hydroxylase (CYP2C19) in the Chinese population. Life Sci 66:L175-L181
46. Griese EU, Zanger UM, Brudermanns U, Gaedigk A, Mikus G, Mörike K, Stuven T, Eichelbaum M (1998) Assessment of the predictive power of genotypes for the in-vivo catalytic function of CYP2D6 in a German population. Pharmacogenetics 8:15-26
47. Schwarz D, Kisselev P, Cascorbi I, Schunck WH, Roots I (2001) Differential metabolism of benzo[a]pyrene and benzo[a]pyrene-7,8-dihydrodiol by human CYP1A1 variants. Carcinogenesis 22:453-459
48. Houlston RS (2000) CYP1A1 polymorphisms and lung cancer risk: a meta-analysis. Pharmacogenetics 10:105-114
49. Cascorbi I, Brockmöller J, Mrozikiewicz PM, Müller A, Roots I (1999) Arylamine N-acetyltransferase activity in man. Drug Metab Rev 31:489-502
50. Okumura K, Kita T, Chikazawa S, Komada F, Iwakawa S, Tanigawara Y (1997) Genotyping of N-acetylation polymorphism and correlation with procainamide metabolism. Clin Pharmacol Ther 61:509-517
51. Kim RB, Leake BF, Choo EF, Dresser GK, Kubba SV, Schwarz UI, Taylor A, Xie HG, McKinsey J, Zhou S, Lan LB, Schuetz JD, Schuetz EG, Wilkinson GR (2001) Identification of functionally variant MDR1 alleles among European Americans and African Americans. Clin Pharmacol Ther 70:189-199