Cytochrome P450 CYP2B6 genotypes and haplotypes in a Colombian population: Identification of novel variant CYP2B6 alleles

Pharmacogenetics and Genomics

Volumn 21, Issue 12, 2011, Pages 773-778

  Restrepo, Juan Gonzalo ^a,d   Martínez, Carmen ^a   García Agúndez, Augusto ^b   Gaviria, Elmer ^d   Laguna, José Julio ^c   García Martín, Elena ^a   Agúndez, José A G ^a  

^a UNIVERSITY OF EXTREMADURA   (Spain)

^b Universidad de Caceres   (Spain)

^c HOSPITAL CENTRAL DE LA CRUZ ROJA   (Spain)

^d UNIVERSIDAD DE ANTIOQUIA   (Colombia)

Author keywords

CYP2B6; mixed population; polymorphisms

Indexed keywords

CYTOCHROME P450 2B6;

ADULT; ALLELE; ARTICLE; COLOMBIA; CONTROLLED STUDY; ETHNIC DIFFERENCE; FEMALE; GENE FREQUENCY; GENE FUNCTION; GENE IDENTIFICATION; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HUMAN; MALE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 81055157867     PISSN: 17446872     EISSN: 17446880     Source Type: Journal    
DOI: 10.1097/FPC.0b013e32834b3efc     Document Type: Article

References (50)

1. Wang H, Tompkins LM. CYP2B6: new insights into a historically overlooked cytochrome P450 isozyme. Curr Drug Metab 2008; 9:598-610.
2. Zanger UM, Turpeinen M, Klein K, Schwab M. Functional pharmacogenetics/genomics of human cytochromes P450 involved in drug biotransformation. Anal Bioanal Chem 2008; 392:1093-1108.
3. Zanger UM, Klein K, Saussele T, Blievernicht J, Hofmann MH, Schwab M. Polymorphic CYP2B6: molecular mechanisms and emerging clinical significance. Pharmacogenomics 2007; 8:743-759. (Pubitemid 47288975)
4. Mo SL, Liu YH, Duan W, Wei MQ, Kanwar JR, Zhou SF. Substrate specificity, regulation, and polymorphism of human cytochrome P450 2B6. Curr Drug Metab 2009; 10:730-753.
5. Thorn CF, Lamba JK, Lamba V, Klein TE, Altman RB. PharmGKB summary: very important pharmacogene information for CYP2B6. Pharmacogenet Genomics 2010; 20:520-523.
6. Rotger M, Colombo S, Furrer H, Bleiber G, Buclin T, Lee BL, et al. Influence of CYP2B6 polymorphism on plasma and intracellular concentrations and toxicity of efavirenz and nevirapine in HIV-infected patients. Pharmacogenet Genomics 2005; 15:1-5. (Pubitemid 43205520)
7. Wang J, Sonnerborg A, Rane A, Josephson F, Lundgren S, Stahle L, et al. Identification of a novel specific CYP2B6 allele in Africans causing impaired metabolism of the HIV drug efavirenz. Pharmacogenet Genomics 2006; 16:191-198.
8. Rotger M, Tegude H, Colombo S, Cavassini M, Furrer H, Decosterd L, et al. Predictive value of known and novel alleles of CYP2B6 for efavirenz plasma concentrations in HIV-infected individuals. Clin Pharmacol Ther 2007; 81:557-566. (Pubitemid 46454205)
9. Rakhmanina NY, Van den Anker JN. Efavirenz in the therapy of HIV infection. Expert Opin Drug Metab Toxicol 2010; 6:95-103.
10. Ciccacci C, Borgiani P, Ceffa S, Sirianni E, Marazzi MC, Altan AM, et al. Nevirapine-induced hepatotoxicity and pharmacogenetics: a retrospective study in a population from Mozambique. Pharmacogenomics 2010; 11: 23-31.
11. Ribaudo HJ, Liu H, Schwab M, Schaeffeler E, Eichelbaum M, Motsinger-Reif AA, et al. Effect of CYP2B6, ABCB1, and CYP3A5 polymorphisms on efavirenz pharmacokinetics and treatment response: an AIDS Clinical Trials Group study. J Infect Dis 2010; 202:717-722.
12. Drocourt L, Ourlin JC, Pascussi JM, Maurel P, Vilarem MJ. Expression of CYP3A4, CYP2B6, and CYP2C9 is regulated by the vitamin D receptor pathway in primary human hepatocytes. J Biol Chem 2002; 277: 25125-25132. (Pubitemid 34951818)
13. Hesse LM, Venkatakrishnan K, Court MH, von Moltke LL, Duan SX, Shader RI, et al. CYP2B6 mediates the in vitro hydroxylation of bupropion: potential drug interactions with other antidepressants. Drug Metab Dispos 2000; 28:1176-1183.
14. Kirchheiner J, Klein C, Meineke I, Sasse J, Zanger UM, Murdter TE, et al. Bupropion and 4-OH-bupropion pharmacokinetics in relation to genetic polymorphisms in CYP2B6. Pharmacogenetics 2003; 13:619-626. (Pubitemid 37311148)
15. Crettol S, Deglon JJ, Besson J, Croquette-Krokkar M, Gothuey I, Hammig R, et al. Methadone enantiomer plasma levels, CYP2B6, CYP2C19, and CYP2C9 genotypes, and response to treatment. Clin Pharmacol Ther 2005; 78:593-604. (Pubitemid 41773635)
16. Bunten H, Liang WJ, Pounder DJ, Seneviratne C, Osselton D. OPRM1 and CYP2B6 gene variants as risk factors in methadone-related deaths. Clin Pharmacol Ther 2010; 88:383-389.
17. Ring HZ, Valdes AM, Nishita DM, Prasad S, Jacob P 3rd, Tyndale RF, et al. Gene-gene interactions between CYP2B6 and CYP2A6 in nicotine metabolism. Pharmacogenet Genomics 2007; 17:1007-1015. (Pubitemid 351339485)
18. Oda Y, Hamaoka N, Hiroi T, Imaoka S, Hase I, Tanaka K, et al. Involvement of human liver cytochrome P4502B6 in the metabolism of propofol. Br J Clin Pharmacol 2001; 51:281-285. (Pubitemid 32391505)
19. Restrepo JG, Garcia-Martin E, Martinez C, Agundez JA. Polymorphic drug metabolism in anaesthesia. Curr Drug Metab 2009; 10:236-246.
20. Kazui M, Nishiya Y, Ishizuka T, Hagihara K, Farid NA, Okazaki O, et al. Identification of the human cytochrome P450 enzymes involved in the two oxidative steps in the bioactivation of clopidogrel to its pharmacologically active metabolite. Drug Metab Dispos 2010; 38:92-99.
21. Chang TK, Weber GF, Crespi CL, Waxman DJ. Differential activation of cyclophosphamide and ifosphamide by cytochromes P-450 2B and 3A in human liver microsomes. Cancer Res 1993; 53:5629-5637. (Pubitemid 23360263)
22. Cho TM, Rose RL, Hodgson E. The effect of chlorpyrifos-oxon and other xenobiotics on the human cytochrome P450-dependent metabolism of naphthalene and deet. Drug Metabol Drug Interact 2007; 22:235-262. (Pubitemid 351326007)
23. Das PC, Cao Y, Rose RL, Cherrington N, Hodgson E. Enzyme induction and cytotoxicity in human hepatocytes by chlorpyrifos and N,N-diethylm-toluamide (DEET). Drug Metabol Drug Interact 2008; 23:237-260.
24. Usmani KA, Rose RL, Goldstein JA, Taylor WG, Brimfield AA, Hodgson E. In vitro human metabolism and interactions of repellent N, N-diethyl-m-toluamide. Drug Metab Dispos 2002; 30:289-294. (Pubitemid 34175020)
25. Casabar RC,Wallace AD, Hodgson E, Rose RL. Metabolism of endosulfanalpha by human liver microsomes and its utility as a simultaneous in vitro probe for CYP2B6 and CYP3A4. Drug Metab Dispos 2006; 34:1779-1785. (Pubitemid 44427482)
26. Croom EL, Wallace AD, Hodgson E. Human variation in CYP-specific chlorpyrifos metabolism. Toxicology 2010; 276:184-191.
27. Foxenberg RJ, McGarrigle BP, Knaak JB, Kostyniak PJ, Olson JR. Human hepatic cytochrome p450-specific metabolism of parathion and chlorpyrifos. Drug Metab Dispos 2007; 35:189-193. (Pubitemid 46148729)
28. Code EL, Crespi CL, Penman BW, Gonzalez FJ, Chang TK, Waxman DJ. Human cytochrome P4502B6: interindividual hepatic expression, substrate specificity, and role in procarcinogen activation. Drug Metab Dispos 1997; 25:985-993. (Pubitemid 27357697)
29. Lang T, Klein K, Fischer J, Nussler AK, Neuhaus P, Hofmann U, et al. Extensive genetic polymorphism in the human CYP2B6 gene with impact on expression and function in human liver. Pharmacogenetics 2001; 11:399-415. (Pubitemid 32656581)
30. Lamba V, Lamba J, Yasuda K, Strom S, Davila J, Hancock ML, et al. Hepatic CYP2B6 expression: gender and ethnic differences and relationship to CYP2B6 genotype and CAR (constitutive androstane receptor) expression. J Pharmacol Exp Ther 2003; 307:906-922. (Pubitemid 37494207)
31. Cox LS, Faseru B, Mayo MS, Krebill R, Snow TS, Bronars CA, et al. Design, baseline characteristics, and retention of African American light smokers into a randomized trial involving biological data. Trials 2011; 12:22.
32. Jamshidi Y, Moreton M, McKeown DA, Andrews S, Nithiyananthan T, Tinworth L, et al. Tribal ethnicity and CYP2B6 genetics in Ugandan and Zimbabwean populations in the UK: implications for efavirenz dosing in HIV infection. J Antimicrob Chemother 2010; 65:2614-2619.
33. Yuan ZH, Liu Q, Zhang Y, Liu HX, Zhao J, Zhu P. CYP2B6 gene single nucleotide polymorphisms and leukemia susceptibility. Ann Hematol 2011; 90:293-299.
34. Chen J, Sun J, Ma Q, Yao Y,Wang Z, Zhang L, et al. CYP2B6 polymorphism and nonnucleoside reverse transcriptase inhibitor plasma concentrations in Chinese HIV-infected patients. Ther Drug Monit 2010; 32:573-578.
35. Ariyoshi N, Iga Y, Hirata K, Sato Y, Miura G, Ishii I, et al. Enhanced susceptibility of HLA-mediated ticlopidine-induced idiosyncratic hepatotoxicity by CYP2B6 polymorphism in Japanese. Drug Metab Pharmacokinet 2010; 25:298-306.
36. Carr DF, la Porte CJ, Pirmohamed M, Owen A, Cortes CP. Haplotype structure of CYP2B6 and association with plasma efavirenz concentrations in a Chilean HIV cohort. J Antimicrob Chemother 2010; 65:1889-1893.
37. Lindfelt T, O'Brien J, Song JC, Patel R, Winslow DL. Efavirenz plasma concentrations and cytochrome 2B6 polymorphisms. Ann Pharmacother 2010; 44(10):1572-1578.
38. Arenaz I, Vicente J, Fanlo A, Vasquez P, Medina JC, Conde B, et al. Haplotype structure and allele frequencies of CYP2B6 in Spaniards and Central Americans. Fundam Clin Pharmacol 2010; 24:247-253.
39. Garcia-Martin E, Martinez C, Ladero JM, Agundez JA. Interethnic and intraethnic variability of CYP2C8 and CYP2C9 polymorphisms in healthy individuals. Mol Diagn Ther 2006; 10:29-40.
40. Garcia-Martin E. Interethnic and intraethnic variability of NAT2 single nucleotide polymorphisms. Curr Drug Metab 2008; 9:487-497. (Pubitemid 352034203)
41. Agundez JA, Golka K, Martinez C, Selinski S, Blaszkewicz M, Garcia-Martin E. Unraveling ambiguous NAT2 genotyping data. Clin Chem 2008; 54:1390-1394.
42. Garcia-Martin E, Martinez C, Pizarro RM, Garcia-Gamito FJ, Gullsten H, Raunio H, et al. CYP3A4 variant alleles in white individuals with low CYP3A4 enzyme activity. Clin Pharmacol Ther 2002; 71:196-204. (Pubitemid 34271123)
43. Stephens M, Smith NJ, Donnelly P. A new statistical method for haplotype reconstruction from population data. Am J Hum Genet 2001; 68:978-989. (Pubitemid 32289743)
44. Barrett JC, Fry B, Maller J, Daly MJ. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 2005; 21:263-265. (Pubitemid 40202029)
45. Jacob RM, Johnstone EC, Neville MJ, Walton RT. Identification of CYP2B6 sequence variants by use of multiplex PCR with allele-specific genotyping. Clin Chem 2004; 50:1372-1377. (Pubitemid 38970644)
46. Ledesma MC, Agundez JA. Identification of subtypes of CYP2D gene rearrangements among carriers of CYP2D6 gene deletion and duplication. Clin Chem 2005; 51:939-943. (Pubitemid 40740872)
47. Klein K, Lang T, Saussele T, Barbosa-Sicard E, Schunck WH, Eichelbaum M, et al. Genetic variability of CYP2B6 in populations of African and Asian origin: allele frequencies, novel functional variants, and possible implications for anti-HIV therapy with efavirenz. Pharmacogenet Genomics 2005; 15: 861-873. (Pubitemid 41666768)
48. Guan S, Huang M, Li X, Chen X, Chan E, Zhou SF. Intra-and inter-ethnic differences in the allele frequencies of cytochrome P450 2B6 gene in Chinese. Pharm Res 2006; 23:1983-1990.
49. Gatanaga H, Hayashida T, Tsuchiya K,Yoshino M, Kuwahara T, Tsukada H, et al. Successful efavirenz dose reduction in HIV type 1-infected individuals with cytochrome P450 2B6 *6 and *26. Clin Infect Dis 2007; 45:1230-1237. (Pubitemid 47580326)
50. Mehlotra RK, Ziats MN, Bockarie MJ, Zimmerman PA. Prevalence of CYP2B6 alleles in malaria-endemic populations of West Africa and Papua New Guinea. Eur J Clin Pharmacol 2006; 62:267-275.