CYP1A2, CYP2A6, CYP2B6, CYP3A4 and CYP3A5 Polymorphisms in two Bantu-speaking populations from Cameroon and South Africa: Implications for global pharmacogenetics

Current Pharmacogenomics and Personalized Medicine

Volumn 10, Issue 1, 2012, Pages 43-53

  Swart, Marelize ^a   Skelton, Michelle ^a   Wonkam, Ambroise ^a   Kannemeyer, Luke ^a   Chin'ombe, Nyasha ^a   Dandara, Collet ^a  

^a UNIVERSITY OF CAPE TOWN   (South Africa)

Author keywords

Bantu speaking population; Cameroon; Correspondence analysis; Cytochrome P450; Global pharmacogenetics; Population pharmacogenetics; Public health genomics; South Africa

Indexed keywords

ADULT; ARTICLE; CAMEROON; CYTOCHROME P450 1A2 GENE; CYTOCHROME P450 2A6 GENE; CYTOCHROME P450 2B6 GENE; CYTOCHROME P450 3A4 GENE; CYTOCHROME P450 3A5 GENE; FEMALE; GENE; HUMAN; MALE; PHARMACOGENETICS; POLYMERASE CHAIN REACTION; POPULATION GENETICS; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SINGLE NUCLEOTIDE POLYMORPHISM; SOUTH AFRICA;

EID: 84860266612     PISSN: 18756921     EISSN: 18756913     Source Type: Journal    
DOI: 10.2174/1875692111201010043     Document Type: Article

References (63)

1. UNAIDS. UNAIDS report on the global AIDS epidemic. Geneva: UNAIDS, 2010. Available from: http://www.unaids.org/Global Report/Global_report.htm [Accessed January 28, 2012].
2. Cooper DY, Levin S, Narasimhulu S, et al. Photochemical Action Spectrum of the Terminal Oxidase of Mixed Function Oxidase Systems. Science 1965; 147(13): 400-2.
3. Aweeka FT, German PI. Clinical pharmacology of artemisinin-based combination therapies. Clin Pharmacokinet 2008; 47(2): 91-102.
4. Piacentini S, Polimanti R, Porreca F, et al. GSTT1 and GSTM1 gene polymorphisms in European and African populations. Mol Biol Rep 2011; 38(2): 1225-30.
5. Warnich L, Drögemöller BI, Pepper MS, et al. Research in South Africa: Lessons Learned and Future Opportunities in the Rainbow Nation. Curr Pharmacogenomics Person Med 2011; 9(3): 191-207.
6. Sim SC, Ingelman-Sundberg M. The Human Cytochrome P450 (CYP) Allele Nomenclature website. http://www.cypalleles.ki.se/ index.htm [Accessed January 28, 2012].
7. Aklillu E, Carrillo JA, Makonnen E, et al. Genetic polymorphism of CYP1A2 in Ethiopians affecting induction and expression: characterization of novel haplotypes with single-nucleotide polymorphisms in intron 1. Mol Pharmacol 2003; 64(3): 659-69.
8. Schoedel KA, Hoffmann EB, Rao Y, et al. Ethnic variation in CYP2A6 and association of genetically slow nicotine metabolism and smoking in adult Caucasians. Pharmacogenetics 2004; 14(9): 615-26.
9. Nakajima M, Fukami T, Yamanaka H, et al. Comprehensive evaluation of variability in nicotine metabolism and CYP2A6 polymorphic alleles in four ethnic populations. Clin Pharmacol Ther 2006; 80(3): 282-97.
10. Nakajima M, Yamamoto T, Nunoya K, et al. Role of human cytochrome P4502A6 in C-oxidation of nicotine. Drug Metab Dispos 1996; 24(11): 1212-7.
11. Mwenifumbo JC, Tyndale RF. Genetic variability in CYP2A6 and the pharmacokinetics of nicotine. Pharmacogenomics 2007; 8(10): 1385-402.
12. Solus JF, Arietta BJ, Harris JR, et al. Genetic variation in eleven phase I drug metabolism genes in an ethnically diverse population. Pharmacogenomics 2004; 5(7): 895-931.
13. Haberl M, Anwald B, Klein K, et al. Three haplotypes associated with CYP2A6 phenotypes in Caucasians. Pharmacogenet Genom 2005; 15(9): 609-24.
14. Hoffman SMG, Nelson DR, Keeney DS. Organization, structure and evolution of the CYP2 gene cluster on human chromosome 19. Pharmacogenetics 2001; 11(8): 687-98.
15. Jacob RM, Johnstone EC, Neville MJ, et al. Identification of CYP2B6 sequence variants by use of multiplex PCR with allelespecific genotyping. Clin Chem 2004; 50(8): 1372-7.
16. Lang T, Klein K, Fisher J, et al. Extensive genetic polymorphism in the human CYP2B6 gene with impact on expression and function in human liver. Pharmacogenetics 2001; 11(5): 399-415.
17. Klein K, Lang T, Saussele T, 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 Genom 2005; 15(12): 861-73.
18. Lamba V, Lamba J, Yasuda K, 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(3): 906-22.
19. Cohen K, Grant A, Dandara C, et al. Effect of rifampicin-based antitubercular therapy and the cytochrome P450 2B6 516G>T polymorphism on efavirenz concentrations in adults in South Africa. Antivir Ther 2009; 14(5): 687-95.
20. Rotger M, Colombo S, Furrer H, et al. Influence of CYP2B6 polymorphism on plasma and intracellular concentrations and toxicity of efavirenz and nevirapine in HIV-infected patients. Pharmacogenet Genom 2005; 15(1): 1-5.
21. Inoue K, Inazawa J, Nakagawa H, et al. Assignment of the human cytochrome P-450 nifedipine oxidase gene (CYP3A4) to chromosome 7 at band q22.1 by fluorescence in situ hybridization. Jpn J Hum Genet 1992; 37(2): 133-8.
22. Kuehl P, Zhang J, Lin Y, et al. Sequence diversity in CYP3A promoters and characterization of the genetic basis of polymorphic CYP3A5 expression. Nat Genet 2001; 27(4): 383-91.
23. Spurdle AB, Goodwin B, Hodgson E, et al. The CYP3A4*1B polymorphism has no functional significance and is not associated with risk of breast or ovarian cancer. Pharmacogenetics 2002; 12(5): 355-66.
24. Westlind-Johnsson A, Hermann R, Huennemeyer A, et al. Identification and characterization of CYP3A4*20, a novel rare CYP3A4 allele without functional activity. Clin Pharmacol Ther 2006; 79(4): 339-49.
25. Haas DW, Bartlett JA, Andersen JW, et al. Pharmacogenetics of nevirapine-associated hepatotoxicity:an Adult AIDS Clinical Trials Group collaboration. Clin Infect Dis 2006; 43(6): 783-6.
26. Berniell-Lee G, Calafell F, Bosch E, et al. Genetic and demographic implications of the Bantu expansion: insights from human paternal lineages. Mol Biol Evol 2009; 26(7): 1581-9.
27. Lane AB, Soodyall H, Arndt S, et al. Genetic substructure in South African Bantu-speakers: evidence from autosomal DNA and Ychromosome studies. Am J Phys Anthropol 2002; 119(2): 175-85.
28. Spedini G, Destro-Bisol G, Mondovì S, et al. The peopling of sub-Saharan Africa: the case study of Cameroon. Am J Phys Anthropol 1999; 110(2): 143-62.
29. Bryc K, Auton A, Nelson MR, et al. Genome-wide patterns of population structure and admixture in West Africans and African Americans. Proc Nat Acad Sci USA 2010; 107(2): 786-91.
30. de Filippo C, Barbieri C, Whitten M, et al. Y-chromosomal variation in sub-Saharan Africa: insights into the history of Niger-Congo groups. Mol Biol Evol 2011; 28(3): 1255-69.
31. Gustafson S, Proper JA, Bowie EJ, et al. Parameters affecting the yield of DNA from human blood. Anal Biochem 1987; 165(2): 294-9.
32. Pavanello S, Pulliero A, Lupi S, et al. Influence of the genetic polymorphism in the 5'-noncoding region of the CYP1A2 gene on CYP1A2 phenotype and urinary mutagenicity in smokers. Mutat Res 2005; 587(1): 59-66.
33. Fukami T, Nakajima M, Yoshida R, et al. A novel polymorphism of human CYP2A6 gene CYP2A6*17 has an amino acid substitution (V365M) that decreases enzymatic activity in vitro and in vivo. Clin Pharmacol Ther 2004; 76(6): 519-27.
34. van Schaik RHN, de Wildt SN, van Iperen NM, et al. CYP3A4-V polymorphism detection by PCR-restriction fragment length polymorphism analysis and its allelic frequency among 199 Dutch Caucasians. Clin Chem 2000; 46(11): 1834-6.
35. van Schaik RHN, van der Heiden IP, van den Anker JN, et al. CYP3A5 variant allele frequencies in Dutch Caucasians. Clin Chem 2002; 48(10): 1668-71.
36. Yong Yong SHI, 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): 97-8.
37. 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): 519-23.
38. Ikediobi O, Aouizerat B, Xiao Y, et al. Analysis of pharmacogenetic traits in two distinct South African populations. Hum Genomics 2011; 5(4): 265-82.
39. Bilgen T, Tosun O, Luleci G, et al. Frequencies of four genetic polymorphisms in the CYP1A2 gene in Turkish population. Russ J Genet 2008; 44(8): 989-92.
40. Hiratsuka M, Takekuma Y, Endo N, et al. Allele and genotype frequencies of CYP2B6 and CYP3A5 in the Japanese population. Eur J Clin Pharmacol. 2002; 58(6): 417-21.
41. Mehlotra RK, Bockarie MJ, Zimmerman PA. CYP2B6 983T>C polymorphism is prevalent in West Africa but absent in Papua New Guinea: implications for HIV/AIDS treatment. Br J Clin Pharmacol 2007; 64(3): 391-5.
42. Keshava C, McCanlies EC, Weston A. CYP3A4 Polymorphisms-Potential Risk Factors for Breast and Prostate Cancer: A HuGE Review. Am J Epidemiol 2004; 160: 825-41.
43. Amirimani B, Ning B, Deitz AC, et al. Increased transcriptional activity of the CYP3A4*1B promoter variant. Environ Mol Mutagen 2003; 42(4): 299-305.
44. Chu W, Fyles A, Sellers EM, et al. Association between CYP3A4 genotype and risk of endometrial cancer following tamoxifen use. Carcinogenesis 2007; 28(10): 2139-42.
45. Dandara C, Ballo R, Parker MI. CYP3A5 genotypes and risk of oesophageal cancer in two South African populations. Cancer Lett 2005; 225(2): 275-82.
46. Haas DW, Ribaudo HJ, Kim RB, et al. Pharmacogenetics of efavirenz and central nervous system side effects: an Adult AIDS Clinical Trials Group study. AIDS 2004; 18: 2391-400.
47. Park SY, Kang YS, Jeong MS, et al. Frequencies of CYP3A5 genotypes and haplotypes in a Korean population. J Clin Pharm Ther 2008; 33(1): 61-5.
48. Hofmann MH, Blievernicht JK, Klein K, et al. Aberrant Splicing Caused by Single Nucleotide Polymorphism c. 516G>T [Q172H], a Marker of CYP2B6 * 6, Is Responsible for Decreased Expression and Activity of CYP2B6 in Liver. J Pharmacol Exp Ther 2008; 325(1): 284-92.
49. Tsuchiya K, Gatanaga H, Tachikawa N, et al. Homozygous CYP2B6 *6 (Q172H and K262R) correlates with high plasma efavirenz concentrations in HIV-1 patients treated with standard efavirenz-containing regimens. Biochem Biophys Res Commun 2004; 319(4): 1322-6.
50. Cho JY, Lim HS, Chung JY, et al. Haplotype structure and allele frequencies of CYP2B6 in a Korean population. Drug Metab Dispos 2004; 32(12): 1341-4.
51. Mehlotra RK, Ziats MN, Bockarie MJ, et al. Prevalence of CYP2B6 alleles in malaria-endemic populations of West Africa and Papua New Guinea. Eur J Clin Pharmacol 2006; 62(4): 267-75.
52. Nyakutira C, Röshammar D, Chigutsa E, et al. High prevalence of the CYP2B6 516G-->T(*6) variant and effect on the population pharmacokinetics of efavirenz in HIV/AIDS outpatients in Zimbabwe. Eur J Clin Pharmacol 2008; 64(4): 357-65.
53. Rotger M, Tegude H, Colombo S, et al. Predictive value of known and novel alleles of CYP2B6 for efavirenz plasma concentrations in HIV-infected individuals. Clin Pharmacol Ther 2007; 81(4): 557-66.
54. Rodriguez-Novoa S, Barreiro P, Rendón A, et al. Influence of 516G>T polymorphisms at the gene encoding the CYP450-2B6 isoenzyme on efavirenz plasma concentrations in HIV-infected subjects. Clin Infect Dis 2005; 40(9): 1358-61.
55. Arab-Alameddine M, Di Iulio J, Buclin T, et al. Pharmacogeneticsbased population pharmacokinetic analysis of efavirenz in HIV-1-infected individuals. Clin Pharmacol Ther 2009; 85(5): 485-94.
56. Haas DW, Gebretsadik T, Mayo G, et al. Relationships between CYP2B6 Polymorphisms and Pharmacokinetics Following a Single Dose of Nevirapine or Efavirenz in African Americans. J Infect Dis 2009; 199(6): 872-80.
57. Jamshidi Y, Moreton M, McKeown DA, 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(12): 2614-9.
58. Powers V, Ward J, Gompels M. CYP2B6 G516T genotyping in a UK cohort of HIV-positive patients: polymorphism frequency and influence on efavirenz discontinuation. HIV Med 2009; 10(8): 520-3.
59. Talbot J, Magno LAV, Santana CVN, et al. Interethnic diversity of NAT2 polymorphisms in Brazilian admixed populations. BMC Genet 2010; 11(1): 87-94.
60. Ingelman-Sundberg M. Genetic susceptibility to adverse effects of drugs and environmental toxicants. The role of the CYP family of enzymes. Mutat Res 2001; 482: 11-9.
61. Sim SC, Ingelman-Sundberg M. Pharmacogenomic biomarkers: new tools in current and future drug therapy. Trends Pharmacol Sci 2011; 32(2): 72-81.
62. Lehoux P. Moving beyond our mutual ignorance. Or, how would engaging the public benefit the personalized medicine community? Curr Pharmacogenomics Person Med 2011; 9(2): 76-9.
63. Flockhart DA. Drug Interactions: Cytochrome P450 Drug Interaction Table. Indiana University School of Medicine (2007). Available from: http://medicine.iupui.edu/clinpharm/ddis/table. aspx [Accessed January 28, 2012].