Molecular mechanisms of genetic variation and transcriptional regulation of CYP2C19

Frontiers in Genetics

Volumn 3, Issue OCT, 2012, Pages

  Helsby, Nuala Ann ^a   Burns, Kathryn Elisa ^a  

^a UNIVERSITY OF AUCKLAND   (New Zealand)

Author keywords

CYP2C19; Epigenetics; miRNA; Pharmacogenetics; Transcription factors

Indexed keywords

EID: 84870928558     PISSN: None     EISSN: 16648021     Source Type: Journal    
DOI: 10.3389/fgene.2012.00206     Document Type: Article

References (59)

1. Aitken, A. E., and Morgan, E. T. (2007). Gene-specific effects of inflammatory cytokines on cytochrome P450 2C, 2B6 and 3A4 mRNA levels in human hepatocytes. Drug Metab. Dispos. 35, 1687.
2. Arefayene, M., Skaar, T. C., Zhao, X., Rae, J. M., Tanus-Santos, J. E., Brinkmann, U., et al. (2003). Sequence diversity and functional characterization of the 5'-regulatory region of human CYP2C19. Pharmacogenetgenomics 13, 199.
3. Baldwin, R., Ohlsson, S., Pedersen, R., Mwinyi, J., Ingelman-Sundberg, M., Eliasson, E., et al. (2008). Increased omeprazole metabolism in carriers of the CYP2C19*17 allele; a phar-macokinetic study in healthy volunteers. Br. J. Clin. Pharmacol. 65, 767-774.
4. Bauer, T., Bouman, H. J., Van Werkum, J. W., Ford, N. F., Ten Berg, J. M., and Taubert, D. (2011). Impact of CYP2C19 variant genotypes on clinical efficacy of antiplatelet treatment with clopidogrel: systematic review and meta-analysis. BMJ 343, d4588.
5. Begg, E. J., Helsby, N. A., and Jensen, B. P. (2012). Pharmacogenetics of drug-metabolizing enzymes: the prodrug hypothesis. Pharmacogenomics 13, 83-89.
6. Blaisdell, J., Mohrenweiser, H., Jackon, J., Ferguson, S., Coulter, S., Chanas, B., et al. (2002). Identification and functional characterization of new potentially defective alleles of human CYP2C19. Pharmacogenetics 12,703-711.
7. Bort, R., Gómez-Lechón, M. J., Castell, J. V., and Jover, R. (2004). Role of hepatocyte nuclear factor 3γ in the expression of human CYP2C genes. Arch. Biochem. Biophys. 426, 63-72.
8. Bourgine, J., Billaut-Laden, I., Happillon, M., Lo-Guidice, J.-M., Maunoury, V., Imbenotte, M., et al. (2012). Gene expression profiling of systems involved in the metabolism and the disposition of xenobi-otics: comparison between human intestinal biopsy samples and colon cell lines. Drug Metab. Dispos. 40, 694-705.
9. Chen, Y., Ferguson, S. S., Negishi, M., and Goldstein, J. A. (2003). Identification of constitutive androstane receptor and gluco-corticoid receptor binding sites in the CYP2C19 promoter. Mol. Pharmacol. 64,316-324.
10. Choi, S.-Y., Koh, K. H., and Jeong, H. (2012). Isoform-specific regulation of cytochromes P450 expression by estradiol and progesterone. Drug Metab. Dispos. doi: 10.1124/dmd.1 12.046276. [Epub ahead of print].
11. Cirillo, L. A., Lin, F. R., Cuesta, I., Friedman, D., Jarnik, M., and Zaret, K. S. (2002). Opening of compacted chromatin by early developmental transcription factors HNF3 (FoxA) and GATA-4. Mol. Cell 9, 279-289.
12. De Morais, S., Wilkinson, G., Blaisdell, J., Meyer, U., Nakamura, K., and Goldstein, J. (1994a). Identification of a new genetic defect responsible for the polymorphism of (S)-Mephenytoin metabolism in japanese. Mol. Pharmacol. 46, 594-598.
13. De Morais, S., Wilkinson, G., Blaisdell, J., Nakamura, K., Meyer, U., and Goldstein, J. (1994b). The major genetic defect responsible for the polymorphism of S-Mephenytoin metabolism in humans. J. Biol. Chem. 269, 15419-15422.
14. Desta, Z., Zhao, X., Shin, J. G., and Flockhart, D. A. (2002). Clinical significance of the cytochrome P450 2C19 genetic polymorphism. Clin. Pharmacokinet. 41, 913-958.
15. Devendran, A., Uppugunduri, C. R. S., Sundaram, R., Shewade, D. G., Rajagopal, K., and Chandrasekaran, A. (2012). Relative copy number variations of CYP2C19 in south indian population. Mol. Biol. Int. 2012, 643856.
16. Drögemöller, B. I., Wright, G. E., Niehaus, D. J., Koen, L., Malan, S., Da Silva, D. M., et al. (2010). Characterization of the genetic profile of CYP2C19 in two South African populations. Pharmacogenomics 11, 1095-1103.
17. Feng, H.-J., Huang, S.-L., Wang, W., and Zhou, H.-H. (1998). The induction effect of rifampicin on activity of mephenytoin 4'-hydroxylase related to M1 mutation of CYP2C19 and gene dose. Br. I Clin. Pharmacol. 45, 27-29.
18. Ferguson, R., De Morais, S., Benhamou, S., Bouchardy, C., Blaisdell, J., Ibeanu, G., et al. (1998). A new genetic defect in human CYP2C19, mutation of the initiation codon is responsible for poor metabolism of S-Mephenytoin. J. Pharmacol. Exp. Ther. 284, 356-361
19. Frye, R. F., Schneider, V. M., Frye, C. S., and Feldman, A. M. (2002). Plasma levels of TNF-α and IL-6 are inversely related to cytochrome P450-dependent drug metabolism in patients with congestive heart failure.J. Card. Fail. 8, 315-319.
20. Fukushima-Uesaka, H., Saito, Y., Maekawa, K., Ozawa, S., Hasegawa, R., Kajio, H., et al. (2005). Genetic variations and haplotypes of CYP2C19 in a Japanese population. Drug Metab. Pharmacokinet. 20, 300-307.
21. Hayashi, M., Matsumoto, N., Takenoshita-Nakaya, S., Takeba, Y., Watanabe, M., Kumai, T., et al. (2011). Individual metabolic capacity evaluation of cytochrome P450 2C19 by protein and activity in the small intestinal mucosa of japanese pancreatoduodenectomy patients. Biol. Pharm. Bull. 34, 71-76.
22. Helsby, N. A. (2008). Pheno-or genotype for the CYP2C19 drug metabolism polymorphism: the influence of disease. Proc. West. Pharmacol. Soc. 51, 5-10.
23. Helsby, N. A., Lo, W. Y., Sharples, K., Riley, G., Murray, M., Spells, K., et al. (2008). CYP2C19 phar-macogenetics in advanced cancer: compromised function independent of genotype. Br. J. Cancer 99, 1251-1255.
24. Hsu, H. L., Woad, K. J., Woodfield, D. G., and Helsby, N. A. (2008). A high incidence of polymorphic CYP2C19 variants in archival blood samples from Papua New Guinea. Hum. Genomics 3, 17-23.
25. Ibeanu, G., Blaisdell, J., Ferguson, R., Ghanayem, B., Brøsen, K., Benhamou, S., et al. (1999). A novel transversion in the intron 5 donor splice junction of CYP2C19 and a sequence polymorphism in exon 3 contribute to the poor metabolizer phenotype for the anti-convulsant drug S-Mephenytoin. J. Pharm. Exp. Ther. 290, 635-640.
26. Ibeanu, G., Blaisdell, J., Ghanayem, B., Beyeler, C., Benhamou, S., Bouchardy, C., et al. (1998a). An additional defective allele, CYP2C19*5, contributes to the S-Mephenytoin poor metabolizer phenotype in Caucasians. Pharmacogenetics8, 129-135.
27. Ibeanu, G., Goldstein, J., Meyer, U., Benhamou, S., Bouchardy, C., Dayer, P., et al. (1998b). Identification of new human CYP2C19 alleles (CYP2C19*6 and CYP2C19*2B) in a caucasian poor metabolizer of mephenytoin. J. Pharm. Exp. Ther. 286, 1490-1495.
28. Ingelman-Sundberg, M., Sim, S. C., Gomez, A., and Rodríguez-Antona, C. (2007). Influence of cytochrome P450 polymorphisms on drug therapies: pharmacogenetic, pharma-coepigenetic and clinical aspects. Pharm. Ther. 116, 496-526.
29. Ishizawa, Y., Yasui-Furukori, N., Takahata, T., Sasaki, M., and Tateishi, T. (2005). The effect of aging on the relationship between the cytochrome P450 2C19 genotype and omeprazole pharma-cokinetics. Clin. Pharmacokinet. 44, 1179-1189.
30. Kaneko, A., Kaneko, O., Taleo, G., Björkman, A., and Kobayakawa, T. (1997). High frequencies of CYP2C19 mutations and poor metabolism of proguanil in Vanuatu. Lancet 349, 921-922.
31. Kawashima, S., Kobayashi, K., Takama, K., Higuchi, T., Furihata, T., Hosokawa, M., et al. (2006). Involvement of hepatocyte nuclear factor 4α in the different expression level between CYP2C9 and CYP2C19 in the human liver. Drug Metab. Dispos. 34, 1012-1018.
32. Kupfer, A., Desmond, P., Schenker, S., and Branch, R. (1979). Family study of a genetically determined deficiency of mephenytoin hydroxyla-tion in man. Pharmacologist 21,173.
33. Läpple, F., Von Richter, O., Fromm, M. E, Richter, T., Thon, K. P., Wisser, H., et al. (2003). Differential expression and function of CYP2C iso-forms in human intestine and liver. Pharm. Genomics 13, 565-575.
34. Lee, S.-J., Kim, W.-Y., Kim, H., Shon, J.-H., Lee, S. S., and Shin, J.-G. (2009). Identification of new CYP2C19 variants exhibiting decreased enzyme activity in the metabolism of S-Mephenytoin and Omeprazole. Drug Metab. Dispos. 37, 2262-2269.
35. Li-Wan-Po, A., Girard, T., Farndon, P., Cooley, C., and Lithgow, J. (2010). Pharmacogenetics of CYP2C19, functional and clinical implications of a new variant CYP2C19*17. Br. J. Clin. Pharmacol. 69, 222-230.
36. Matimba, A., Del-Favero, J., Van Broeckhoven, C., and Masi-mirembwa, C. (2009). Novel variants of major drug-metabolising enzyme genes in diverse African populations and their predicted functional effects. Hum. Genomics 3, 169-190.
37. McGready, R., Stepniewska, K., Seaton, E., Cho, T., Cho, D., Ginsberg, A., et al. (2003). Pregnancy and use of oral contraceptives reduces the biotransformation of proguanil to cycloguanil. Eur. J. Clin. Pharmacol. 59, 553-557.
38. Miranda-Carboni, G. A., Guemes, M., Bailey, S., Anaya, E., Corselli, M., Peault, B., et al. (2011). GATA4 regulates estrogen receptor-α-Mediated Osteoblast transcription. Mol. Endocrinol. 25, 1126-1136.
39. Molkentin, J. D. (2000). The zinc finger-containing transcription factors GATA-4, -5, and -6. J. Biol. Chem. 275, 38949-38952.
40. Morita, J., Kobayashi, K., Wanibuchi, A., Kimura, M., Irie, S., Ishizaki, T., et al. (2004). A novel single nucleotide polymorphism (SNP) of the CYP2C19 gene in a Japanese subject with lowered capacity of mephobarbital 4 -hydroxylation. Drug Metab. Pharmacokinet. 19, 236-238.
41. Mwinyi, J., Cavaco, I., Pedersen, R. S., Persson, A., Burkhardt, S., Mkrtchian, S., et al. (2010a). Regulation of CYP2C19 expression by estrogen receptor α: implications for estrogen-dependent inhibition of drug metabolism. Mol. Pharmacol. 78, 886-894.
42. Mwinyi, J., Hofmann, Y., Pedersen, R. S., Nekvindová, J., Cavaco, I., Mkrtchian, S., et al. (2010b). The transcription factor GATA-4 regulates cytochrome P4502C19 gene expression. Life Sci. 86, 699-706.
43. Ramamoorthy, A., and Skaar, T. C. (2011). In silico identification of MicroRNAs predicted to regulate the drug metabolizing cytochrome P450 genes. Drug Metab. Lett. 5, 126-131.
44. Rana, R., Chen, Y., Ferguson, S. S., Kissling, G. E., Surapureddi, S., and Goldstein, J. A. (2010). Hepatocyte nuclear factor 4α regulates rifampicin-mediated induction of CYP2C genes in primary cultures of human hep-atocytes. Drug Metab. Dispos. 38, 591-599.
45. Romkes, M., Faletto, M. B., Blaisdell, J. A., Raucy, J. L., and Goldstein, J. A. (1991). Cloning and expression of complementary DNAs for multiple members of the human cytochrome P450IIC subfamily. Biochemistry 30, 3247-3255.
46. Satyanarayana, C. R. U., Devendran, A., Jayaraman, M., Mannu, J., Mathur, P. P., Gopal, S. D., et al. (2009a). Influence of the genetic polymorphisms in the 5' flanking and exonic regions of CYP2C19 on proguanil oxidation. Drug Metab. Pharmacokinet. 24, 537-548.
47. Satyanarayana, C. R. U., Devendran, A., Sundaram, R., Gopal, S. D., Rajagopal, K., and Chandrasekaran, A. (2009b). Genetic variations and haplotypes of the 5' regulatory region of CYP2C19 in South Indian population. Drug Metab. Pharmacokinet. 24, 185-193.
48. Satyanarayana, C. R. U., Devendran, A., Satyamoorthy, K., Shewade, D. G., Krishnamoorthy, R., and Chandrasekaran, A. (2011). Functional characterization of promoter region polymorphisms of human CYP2C19 gene. Mol. Biol. Rep. 38, 4171-4179.
49. Scott, S. A., Martis, S., Peter, I., Kasai, Y., Kornreich, R., and Desnick, R. J. (2011). Identification of CYP2C19*4B: pharmaco-genetic implications for drug metabolism including clopido-grel responsiveness. Pharmacogenomics J. 12,297-305.
50. Sim, S. C., Risinger, C., Dahl, M. L., Aklillu, E., Christensen, M., Bertilsson, L., et al. (2006). A common novel CYP2C19 gene variant causes ultrarapid drug metabolism relevant for the drug response to proton pump inhibitors and antide-pressants. Clin. Pharmacol. Ther. 79, 103-113.
51. Sistonen, J., Fuselli, S., Palo, J. U., Chauhan, N., Padh, H., and Sajantila, A. (2009). Pharmacogenetic variation at CYP2C9, CYP2C19, and CYP2D6 at global and microgeographic scales. Pharmacogenet. Genomics 19, 170-179.
52. Wang, D., Jiang, Z., Shen, Z., Wang, H., Wang, B., Shou, W., et al. (2011). Functional evaluation of genetic and environmental regulators of P450 mRNA levels. PLoS ONE 6:e24900. doi: 10.1371/journal.pone.0024900
53. Williams, M. L., Bhargava, P., Cherrouk, I., Marshall, J. L., Flockhart, D. A., and Wainer, I. W. (2000). A discordance of the cytochrome P450 2C19 genotype and phenotype in patients with advanced cancer. Br. J. Clin. Pharmacol. 49, 485-488.
54. Wortham, M., Czerwinski, M., He, L., Parkinson, A., and Wan, Y.-J. Y. (2007). Expression of constitutive androstane receptor, hepatic nuclear factor 4α, and P450 oxidoreductase genes determines interindividual variability in basal expression and activity of a broad scope of xenobiotic metabolism genes in the human liver. Drug Metab. Dispos. 35, 1700-1710.
55. Xiao, Z., Goldstein, J., Xie, H., Blaisdell, J., Wang, W., Jiang, C., et al. (1997). 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. 281, 604-609.
56. Xie, H., Kim, R., Wood, A., and Stein, C. (2001). Molecular basis of ethnic differences in drug disposition and response. Annu. Rev. Pharmacol. Toxicol. 41,815-850.
57. Yang, X., Zhang, B., Molony, C., Chudin, E., Hao, K., Zhu, J., et al. (2010). Systematic genetic and genomic analysis of cytochrome P450 enzyme activities in human liver. Genome Res. 20, 1020-1036.
58. Zhang, S.-Y., Surapureddi, S., Coulter, S., Ferguson, S. S., and Goldstein, J. A. (2012). Human CYP2C8 is post-transcriptionally regulated by MicroRNAs 103 and 107 in human liver. Mol. Pharmacol. 82, 529-540.
59. Zhou, Q., Yu, X. M., Lin, H. B., Wang, L., Yun, Q. Z., Hu, S. N., et al. (2009). Genetic polymorphism, linkage disequilibrium, haplotype structure and novel allele analysis