Analysis of genetic variation in CYP450 genes for clinical implementation

PLoS ONE

Volumn 12, Issue 1, 2017, Pages

  Goh, Liuh Ling ^a   Lim, Chia Wei ^a   Sim, Wey Cheng ^a   Toh, Li Xian ^a   Leong, Khai Pang ^a  

^a TAN TOCK SENG HOSPITAL   (Singapore)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME P450; CYTOCHROME P450 2C19; CYTOCHROME P450 2C9; CYTOCHROME P450 2D6; CYTOCHROME P450 3A5; DNA;

ARTICLE; CHINESE; CLINICAL LABORATORY; CONTROLLED STUDY; COPY NUMBER VARIATION; CYP2C19 GENE; CYP2C9 GENE; CYP2D6 GENE; CYP3A5 GENE; CYP450 GENE; ETHNIC DIFFERENCE; EXON; GENE; GENE FREQUENCY; GENETIC ANALYSIS; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HIGH RISK PATIENT; HUMAN; INDIAN; INTRON; KNOWLEDGE BASE; MALAY (PEOPLE); PHARMACOGENETICS; PHARMACOGENOMICS; POLYMERASE CHAIN REACTION; SINGAPORE; SINGLE NUCLEOTIDE POLYMORPHISM; VKORC1 GENE; ALLELE; ASIAN CONTINENTAL ANCESTRY GROUP; CHINA; ENZYME ASSAY; ETHNIC GROUP; GENE LOCUS; GENETIC VARIATION; GENETICS; HAPLOTYPE; INDIA; MALAYSIA; PHENOTYPE; REPRODUCIBILITY;

ALLELES; ASIAN CONTINENTAL ANCESTRY GROUP; CHINA; CYTOCHROME P-450 ENZYME SYSTEM; ENZYME ASSAYS; ETHNIC GROUPS; GENE FREQUENCY; GENETIC LOCI; GENETIC VARIATION; HAPLOTYPES; HUMANS; INDIA; MALAYSIA; PHENOTYPE; REPRODUCIBILITY OF RESULTS; SINGAPORE;

EID: 85008204452     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0169233     Document Type: Article

References (31)

1. Weinshilboum RM, Wang L (2006) Pharmacogenetics and pharmacogenomics: development, science, and translation. Annu Rev Genomics Hum Genet 7: 223-245. doi: 10.1146/annurev.genom.6.080604.162315 PMID: 16948615
2. Wang L, McLeod HL, Weinshilboum RM (2011) Genomics and drug response. N Engl J Med 364: 1144-1153. doi: 10.1056/NEJMra1010600 PMID: 21428770
3. Green ED, Guyer MS, National Human Genome Research I (2011) Charting a course for genomic medicine from base pairs to bedside. Nature 470: 204-213. doi: 10.1038/nature09764 PMID: 21307933
4. Sim SC, Kacevska M, Ingelman-Sundberg M (2013) Pharmacogenomics of drug-metabolizing enzymes: a recent update on clinical implications and endogenous effects. Pharmacogenomics J 13: 1-11. doi: 10.1038/tpj.2012.45 PMID: 23089672
5. Wu AC, Fuhlbrigge AL (2008) Economic evaluation of pharmacogenetic tests. Clin Pharmacol Ther 84: 272-274. doi: 10.1038/clpt.2008.127 PMID: 18580869
6. Relling MV, Evans WE (2015) Pharmacogenomics in the clinic. Nature 526: 343-350. doi: 10.1038/nature15817 PMID: 26469045
7. Furge LL, Guengerich FP (2006) Cytochrome P450 enzymes in drug metabolism and chemical toxicology: An introduction. Biochem Mol Biol Educ 34: 66-74. doi: 10.1002/bmb.2006.49403402066 PMID: 21638641
8. van der Weide J, Steijns LS (1999) Cytochrome P450 enzyme system: genetic polymorphisms and impact on clinical pharmacology. Ann Clin Biochem 36 (Pt 6): 722-729.
9. Wadelius M, Pirmohamed M (2007) Pharmacogenetics of warfarin: current status and future challenges. Pharmacogenomics J 7: 99-111. doi: 10.1038/sj.tpj.6500417 PMID: 16983400
10. Johnson JA, Gong L, Whirl-Carrillo M, Gage BF, Scott SA, Stein CM, et al. (2011) Clinical Pharmacogenetics Implementation Consortium Guidelines for CYP2C9 and VKORC1 genotypes and warfarin dosing. Clin Pharmacol Ther 90: 625-629. doi: 10.1038/clpt.2011.185 PMID: 21900891
11. Gurbel PA, Bliden KP, Antonino MJ, Stephens G, Gretler DD, Jurek MM, et al. (2010) The effect of elinogrel on high platelet reactivity during dual antiplatelet therapy and the relation to CYP2C19∗2 genotype: first experience in patients. J Thromb Haemost 8: 43-53. doi: 10.1111/j.1538-7836.2009.03648.x PMID: 19817997
12. Furuta T, Shirai N, Sugimoto M, Nakamura A, Hishida A, Ishizaki T (2005) Influence of CYP2C19 pharmacogenetic polymorphism on proton pump inhibitor-based therapies. Drug Metab Pharmacokinet 20: 153-167. PMID: 15988117
13. Thorn CF, Whirl-Carrillo M, Leeder JS, Klein TE, Altman RB (2012) PharmGKB summary: phenytoin pathway. Pharmacogenet Genomics 22: 466-470. doi: 10.1097/FPC.0b013e32834aeedb PMID: 22569204
14. Birdwell KA, Decker B, Barbarino JM, Peterson JF, Stein CM, Sadee W, et al. (2015) Clinical Pharmacogenetics Implementation Consortium (CPIC) Guidelines for CYP3A5 Genotype and Tacrolimus Dosing. Clin Pharmacol Ther 98: 19-24. doi: 10.1002/cpt.113 PMID: 25801146
15. Lamba JK, Lin YS, Schuetz EG, Thummel KE (2002) Genetic contribution to variable human CYP3A-mediated metabolism. Adv Drug Deliv Rev 54: 1271-1294. PMID: 12406645
16. Ingelman-Sundberg M (2004) Pharmacogenetics of cytochrome P450 and its applications in drug therapy: the past, present and future. Trends Pharmacol Sci 25: 193-200. doi: 10.1016/j.tips.2004.02.007 PMID: 15063083
17. Crews KR, Caudle KE, Dunnenberger HM, Sadhasivam S, Skaar TC (2015) Considerations for the Utility of the CPIC Guideline for CYP2D6 Genotype and Codeine Therapy. Clin Chem 61: 775-776. doi: 10.1373/clinchem.2014.237412 PMID: 25770140
18. Hicks JK, Bishop JR, Sangkuhl K, Muller DJ, Ji Y, Leckband SG, et al. (2015) Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2D6 and CYP2C19 Genotypes and Dosing of Selective Serotonin Reuptake Inhibitors. Clin Pharmacol Ther 98: 127-134. doi: 10.1002/cpt.147 PMID: 25974703
19. Zhou SF (2009) Polymorphism of human cytochrome P450 2D6 and its clinical significance: Part I. Clin Pharmacokinet 48: 689-723. doi: 10.2165/11318030-000000000-00000 PMID: 19817501
20. Kimura S, Umeno M, Skoda RC, Meyer UA, Gonzalez FJ (1989) The human debrisoquine 4-hydroxylase (CYP2D) locus: sequence and identification of the polymorphic CYP2D6 gene, a related gene, and a pseudogene. Am J Hum Genet 45: 889-904. PMID: 2574001
21. Sim SC, Ingelman-Sundberg M (2013) Update on allele nomenclature for human cytochromes P450 and the Human Cytochrome P450 Allele (CYP-allele) Nomenclature Database. Methods Mol Biol 987: 251-259. doi: 10.1007/978-1-62703-321-3-21 PMID: 23475683
22. Sistonen J, Fuselli S, Levo A, Sajantila A (2005) CYP2D6 genotyping by a multiplex primer extension reaction. Clin Chem 51: 1291-1295. doi: 10.1373/clinchem.2004.046466 PMID: 15905314
23. Ji Y, Skierka JM, Blommel JH, Moore BE, VanCuyk DL, Bruflat JK, et al. (2016) Preemptive Pharmacogenomic Testing for Precision Medicine: A Comprehensive Analysis of Five Actionable Pharmacogenomic Genes Using Next-Generation DNA Sequencing and a Customized CYP2D6 Genotyping Cascade. J Mol Diagn 18: 438-445. doi: 10.1016/j.jmoldx.2016.01.003 PMID: 26947514
24. Hindson BJ, Ness KD, Masquelier DA, Belgrader P, Heredia NJ, Makarewicz AJ, et al. (2011) High-throughput droplet digital PCR system for absolute quantitation of DNA copy number. Anal Chem 83: 8604-8610. doi: 10.1021/ac202028g PMID: 22035192
25. Ramamoorthy A, Flockhart DA, Hosono N, Kubo M, Nakamura Y, Skaar TC (2010) Differential quantification of CYP2D6 gene copy number by four different quantitative real-time PCR assays. Pharmacogenet Genomics 20: 451-454. doi: 10.1097/FPC.0b013e32833a1083 PMID: 20421845
26. Brunham LR, Chan SL, Li R, Aminkeng F, Liu X, Saw WY, et al. (2014) Pharmacogenomic diversity in Singaporean populations and Europeans. Pharmacogenomics J 14: 555-563. doi: 10.1038/tpj.2014.22 PMID: 24861855
27. Chan MY, Tan K, Tan HC, Huan PT, Li B, Phua QH, et al. (2012) CYP2C19 and PON1 polymorphisms regulating clopidogrel bioactivation in Chinese, Malay and Indian subjects. Pharmacogenomics 13: 533-542. doi: 10.2217/pgs.12.24 PMID: 22462746
28. Tan DS, Yeo AH, Ho HK, Wee HL, Ong HY (2014) Asian study of clopidogrel (ASCLOP) responsiveness: the contributions of genetic and non-genetic factors. Int J Cardiol 171: e21-23. doi: 10.1016/j.ijcard.2013.11.126 PMID: 24377711
29. Lim JS, Chen XA, Singh O, Yap YS, Ng RC, Wong NS, et al. (2011) Impact of CYP2D6, CYP3A5, CYP2C9 and CYP2C19 polymorphisms on tamoxifen pharmacokinetics in Asian breast cancer patients. Br J Clin Pharmacol 71: 737-750. doi: 10.1111/j.1365-2125.2011.03905.x PMID: 21480951
30. Scott SA, Sangkuhl K, Stein CM, Hulot JS, Mega JL, Roden DM, et al. (2013) Clinical Pharmacogenetics Implementation Consortium guidelines for CYP2C19 genotype and clopidogrel therapy: 2013 update. Clin Pharmacol Ther 94: 317-323. doi: 10.1038/clpt.2013.105 PMID: 23698643
31. Crews KR, Gaedigk A, Dunnenberger HM, Klein TE, Shen DD, Callaghan JT, et al. (2012) Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for codeine therapy in the context of cytochrome P450 2D6 (CYP2D6) genotype. Clin Pharmacol Ther 91: 321-326. doi: 10.1038/clpt.2011.287 PMID: 22205192