Frequencies of single nucleotide polymorphisms in cytochrome P450 genes (CYP1A2, 2A6, 2B6, 3A4 and 3A5) in a Rwandan population: Difference to other African populations

Current Pharmacogenomics and Personalized Medicine

Volumn 11, Issue 3, 2013, Pages 237-246

  Bienvenu, Emile ^a   Swart, Marelize ^b   Dandara, Collet ^b   Ekman, Agneta ^a   Äbelö, Angela ^a   Wonkam, Ambroise ^b   Ashton, Michael ^a  

^a UNIVERSITY OF GOTHENBURG   (Sweden)

^b UNIVERSITY OF CAPE TOWN   (South Africa)

Author keywords

Africa; Allele; Cytochrome P450; Genomics and africa; Global personalized medicine; Pharmacogenetics; Population; Rwanda; Single nucleotide polymorphisms

Indexed keywords

CYTOCHROME P450 1A2; CYTOCHROME P450 2A6; CYTOCHROME P450 2B6; CYTOCHROME P450 3A4; CYTOCHROME P450 3A5;

ADULT; AGED; ARTICLE; CYTOCHROME P450 GENE; FEMALE; GENE; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENETIC VARIABILITY; GENOTYPE; GENOTYPING TECHNIQUE; HUMAN; MAJOR CLINICAL STUDY; MALE; PERSONALIZED MEDICINE; RACE; RWANDA; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 84888103888     PISSN: 18756921     EISSN: 18756913     Source Type: Journal    
DOI: 10.2174/18756921113119990006     Document Type: Article

References (47)

1. Gervasini G, Benítez J, Carrillo JA. Pharmacogenetic testing and therapeutic drug monitoring are complementary tools for optimal individualization of drug therapy. Eur J Clin Pharmacol 2010; 66(8): 755-774.
2. King J, Aberg JA. Clinical impact of patient population differences and genomic variation in efavirenz therapy. AIDS 2008; 22(14): 1709-1717.
3. Koo SH, Lee EJ. Pharmacogenetics approach to therapeutics. Clin Exp Pharmacol Physiol 2006; 33(5-6): 525-532.
4. Sim SC, Kacevska M, Ingelman-Sundberg M. Pharmacogenomics of drug-metabolizing enzymes: a recent update on clinical implications and endogenous effects. Pharmacogenomics J 2013; 13(1): 1-11.
5. Zanger UM, Turpeinen M, Klein K, et al. Functional pharmacogenetics/genomics of human cytochromes P450 involved in drug biotransformation. Anal Bioanal Chem 2008; 392(6): 1093-1108.
6. Mwenifumbo JC, Lessov-Schlaggar CN, Zhou Q, et al. Identification of novel CYP2A6*1B variants: the CYP2A6*1B allele is associated with faster in vivo nicotine metabolism. Clin Pharmacol Ther 2008; 83(1): 115-121.
7. Woo SW, Kang TS, Park HJ, et al. Comparison of linkage disequilibrium patterns and haplotype structure of eight single nucleotide polymorphisms across the CYP1A2 gene between the Korean, and other populations registered in the International HapMap database. J Clin Pharm Ther 2009; 34(4): 429-436.
8. Cressey TR, Lallemant M. Pharmacogenetics of antiretroviral drugs for the treatment of HIV-infected patients: an update. Infect Genet Evol 2007; 7(2): 333-342.
9. di Iulio J, Fayet A, Arab-Alameddine M, et al. Swiss HIV Cohort Study. In vivo analysis of efavirenz metabolism in individuals with impaired CYP2A6 function. Pharmacogenet Genomics 2009; 19(4): 300-309.
10. Kwara A, Tashima KT, Dumond JB, et al. Modest but variable effect of rifampin on steady-state plasma pharmacokinetics of efavirenz in healthy African-American and Caucasian volunteers. Antimicrob Agents Chemother 2011; 55(7): 3527-3533.
11. Ogburn ET, Jones DR, Masters AR, et al. Efavirenz primary and secondary metabolism in vitro and in vivo: identification of novel metabolic pathways and cytochrome P450 (CYP) 2A6 as the principal catalyst of efavirenz 7-hydroxylation, Drug Metab Dispos 2010; 38(7): 1218-1229.
12. Swart M, Skelton M, Wonkam A, et al. CYP1A2, CYP2A6, CYP2B6, CYP3A4 and CYP3A5 Polymorphisms in Two Bantu-Speaking Populations from Cameroon and South Africa: Implications for Global Pharmacogenetics. Curr Pharmacogenomics Person Med 2012; 10(1): 43-53.
13. Manzi SF, Shannon M. Drug interactions-A review. Clinical Pediatric Emergency Medicine 2005; 6(2): 93-102.
14. Sachse C, Bhambra U, Smith G, et al. Polymorphisms in the cytochrome P450 CYP1A2 gene (CYP1A2) in colorectal cancer patients and controls: allele frequencies, linkage disequilibrium and influence on caffeine metabolism. Br J Clin Pharmacol 2003; 55(1): 68-76.
15. Shapiro LE, Shear NH. Drug interactions: Proteins, pumps, and P-450s. J Am Acad Dermatol 2002; 47(4): 467-484.
16. Kwara A, Lartey M, Sagoe KW, et al. CYP2B6 (c.516G-T) and CYP2A6 (*9B and/or *17) polymorphisms are independent predictors of efavirenz plasma concentrations in HIV-infected patients. Br J Clin Pharmacol 2009; 67(4): 427-436.
17. Raunio H, Rahnasto-Rilla M. CYP2A6: genetics, structure, regulation, and function. Drug Metabol Drug Interact 2012; 27(2): 73-88.
18. Zanger UM, Klein K. Pharmacogenetics of cytochrome P450 2B6 (CYP2B6): advances on polymorphisms, mechanisms, and clinical relevance. Front Genet 2013; 4(24): 1-12.
19. Zanger UM, Klein K, Saussele T, et al. Polymorphic CYP2B6: molecular mechanisms and emerging clinical significance. Pharmacogenomics. 2007; 8(7): 743-759.
20. Wang YH, Jones DR, Hall SD. Differential mechanism-based inhibition of CYP3A4 and CYP3A5 by verapamil. Drug Metab Dispos 2005; 33(5): 664-671.
21. Kauppi L, Sajantila A, Jeffreys AJ. Recombination hotspots rather than population history dominate linkage disequilibrium in the MHC class II region. Hum Mol Genet 2003; 12(1): 33-40.
22. Warnich L, Drögemöller BI, Pepper MS, et al. Pharmacogenomic Research in South Africa: Lessons Learned and Future Opportunities in the Rainbow Nation. Curr Pharmacogenomics Person Med 2011; 9(3): 191-207.
23. Campbell MC, Tishkoff SA. African genetic diversity: implications for human demographic history, modern human origins, and complex disease mapping. Annu Rev Genomics Hum Genet 2008; 9: 403-433.
24. Mallal S, Phillips E. The Introduction of Pharmacogenetic Screening to HIV Clinical Practice-Potential Benefits and Challenges. European Infectious Disease 2007; 1(1): 13-18.
25. Sánchez A, Cabrera S, Santos D, et al. Population pharmacokinetic/ pharmacogenetic model for optimization of efavirenz therapy in Caucasian HIV-infected patients. Antimicrob Agents Chemother 2011; 55(11): 5314-5324.
26. [] World Health Organization. HIV/AIDS: Global situation and trends. Global Health Observatory (GHO). 2010. Available from http://www.who.int/gho/hiv/en/index.html [Accessed January 29, 2013].
27. [] World Health Organization. Malaria. Global Health Observatory (GHO). 2010. Available from http://www.who.int/gho/malaria/en/index.html [Accessed January 29, 2013].
28. [] World Health Organization. Tuberculosis (TB): Global situation and trends. Global Health Observatory (GHO). 2011. Available from http://www.who.int/gho/tb/en/index.html [Accessed January 29, 2013].
29. Svärd J, Spiers JP, Mulcahy F, et al. Nuclear receptor-mediated induction of CYP450 by antiretrovirals: functional consequences of NR1I2 (PXR) polymorphisms and differential prevalence in whites and sub-Saharan Africans. J Acquir Immune Defic Syndr 2010; 55(5): 536-549.
30. [] LGC Genomics. PLUS XL manual kit. Available from http://www.lgcgenomics.com/mag-tm [Accessed February 04, 2013].
31. [] LGC Genomics. The KASP™ genotyping assay. Available from http://www.lgcgenomics.com/kasp-genotyping-reagents [Accessed February 04, 2013].
32. [] Li Z, Zhang Z, He Z, et al. A partition-ligation-combinationsubdivision EM algorithm for haplotype inference with multiallelic markers: update of the SHEsis (http://analysis.bio-x.cn). Cell Res 2009; 19(4): 519-523.
33. Shi YY, Lin HE. SHEsis, a powerful software platform for analyses of linkage disequilibrium, haplotype construction, and genetic association at polymorphism loci. Cell Res 2005; 15(2): 97-98.
34. Kwara A, Lartey M, Sagoe KW, et al. CYP2B6 (c.516G-T) and CYP2A6 (*9B and/or *17) polymorphisms are independent predictors of efavirenz plasma concentrations in HIV-infected patients. Br J Clin Pharmacol 2009; 67(4): 427-436.
35. Kwara A, Lartey M, Sagoe KW, et al. CYP2B6, CYP2A6 and UGT2B7 genetic polymorphisms are predictors of efavirenz middose concentration in HIV-infected patients. AIDS 2009; 23(16): 2101-2106.
36. Dove ES, Ozdemir V. All the postgenomic world is a stage: the actors and narrators required for translating pharmacogenomics into public health. Personalized Medicine 2013; 10(3): 213-216.
37. Ozdemir V, Borda-Rodriguez A, Dove ES, et al. Public Health Pharmacogenomics and the Design Principles for Global Public Goods-Moving Genomics to Responsible Innovation. Curr Pharmacogenomics Person Med 2013; 11(1): 1-4.
38. Ozdemir V, Husereau D, Hyland S, et al. Personalized Medicine Beyond Genomics: New Technologies, Global Health Diplomacy and Anticipatory Governance. Curr Pharmacogenomics Person Med 2009; 7(4): 225-230.
39. Bains RK, Kovacevic M, Plaster CA, et al. Molecular diversity and population structure at the Cytochrome P450 3A5 gene in Africa. BMC Genet 2013; 14(5): 34-52.
40. Thorn CF, Lamba JK, Lamba V, et al. PharmGKB summary: Very important pharmacogene information for CYP2B6, Pharmacogenetics and Genomics 2010. 20(8): 520-523.
41. Ribaudo HJ, Liu H, Schwab M, 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(5): 717-722.
42. Leger P, Dillingham R, Beauharnais CA, et al. CYP2B6 variants and plasma efavirenz concentrations during antiretroviral therapy in Port-au-Prince, Haiti. J Infect Dis 2009; 200(6): 955-964.
43. Haas DW, Gebretsadik T, Mayo G, et al. Associations between CYP2B6 polymorphisms and pharmacokinetics after a single dose of nevirapine or efavirenz in African americans. J Infect Dis 2009; 199(6): 872-880.
44. Pozniak AL, Coyne KM, Miller RF, et al. British HIV Association Guidelines Subcommittee. British HIV Association guidelines for the treatment of TB/HIV coinfection. HIV Medicine 2011; 12(9): 517-524.
45. Rekic D, Röshammar D, Mukonzo J, et al. In silico prediction of efavirenz and rifampicin drug-drug interaction considering weight and CYP2B6 phenotype. Br J Clin Pharmacol 2011; 71(4): 536-543.
46. Josephson F, Allqvist A, Janabi M, et al. CYP3A5 genotype has an impact on the metabolism of the HIV protease inhibitor saquinavir. Clin Pharmacol Ther 2007; 81(5): 708-712.
47. Dandara C, Adebamowo C, de Vries J, et al. An Idea Whose Time Has Come? An African Foresight Observatory on Genomics Medicine and Data-Intensive Global Science. Curr Pharmacogenomics Person Med 2012; 10(1): 7-15.