Pharmacogenetics of antiretroviral therapy;Farmacogenética del tratamiento antirretroviral

Enfermedades Infecciosas y Microbiologia Clinica

Volumn 24, Issue SUPPL.2, 2006, Pages 13-18

  Rotger, Margalida ^a,c   Lubomirov, Rubin ^b   Rodríguez Novoa, Sonia ^b   Barreiro, Pablo ^b  

^a LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^b HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^c Institute of Microbiology   (Switzerland)

Author keywords

Antiretroviral therapy; HIV; Pharmacogenetics

Indexed keywords

ABACAVIR; ANTIRETROVIRUS AGENT; ATAZANAVIR; CYTOCHROME P450; CYTOCHROME P450 3A4; CYTOCHROME P450 3A5; DIDANOSINE; EFAVIRENZ; GLUCURONOSYLTRANSFERASE 1A1; INDINAVIR; LOPINAVIR; MULTIDRUG RESISTANCE PROTEIN 1; MULTIDRUG RESISTANCE PROTEIN 2; MULTIDRUG RESISTANCE PROTEIN 4; MULTIDRUG RESISTANCE PROTEIN 5; NELFINAVIR; NEVIRAPINE; RITONAVIR; SAQUINAVIR; TENOFOVIR; TUMOR NECROSIS FACTOR ALPHA;

DRUG EFFICACY; DYSLIPIDEMIA; ENZYME METABOLISM; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HEREDITY; HIGHLY ACTIVE ANTIRETROVIRAL THERAPY; HUMAN; HUMAN IMMUNODEFICIENCY VIRUS INFECTION; HYPERBILIRUBINEMIA; HYPERSENSITIVITY; IMMUNOLOGY; LIPODYSTROPHY; NEUROTOXICITY; PANCREATITIS; PHARMACOGENETICS; REVIEW;

EID: 34548552964     PISSN: 0213005X     EISSN: 15781852     Source Type: Journal    
DOI: 10.1157/13096045     Document Type: Review

References (71)

1. Hoffmeyer S, Burk O, Von RO, Arnold HP, Brockmoller J, Johne A, et al. Functional polymorphisms of the human multidrug-resistance gene: multiple sequence variations and correlation of one allele with P-glycoprotein expression and activity in vivo. Proc Natl Acad Sci USA. 2000;97:3473-8.
2. Wang D, Johnson AD, Papp AC, Kroetz DL, Sadee W. Multidrug resistance polypeptide 1 (MDR1, ABCB1) variant 3435C > T affects mRNA stability. Pharmacogenet Genomics. 2005;15:693-704.
3. Colombo S, Soranzo N, Rotger M, Sprenger R, Bleiber G, Furrer H, et al. Influence of ABCB1, ABCC1, ABCC2, and ABCG2 haplotypes on the cellular exposure of nelfinavir in vivo. Pharmacogenet Genomics. 2005;15:599-608.
4. Haas DW, Ribaudo HJ, Kim RB, Tierney C, Wilkinson GR, Gulick RM, et al. Pharmacogenetics of efavirenz and central nervous system side effects: an Adult AIDS Clinical Trials Group study. AIDS. 2004;18:2391-400.
5. Haas DW, Smeaton LM, Shafer RW, Robbins GK, Morse GD, Labbe L, et al. Pharmacogenetics of long-term responses to antiretroviral regimens containing Efavirenz and/or Nelfinavir: an Adult Aids Clinical Trials Group Study. J Infect Dis. 2005;192:1931-42.
6. Saitoh A, Singh KK, Powell CA, Fenton T, Fletcher CV, Brundage R, et al. An MDR1-3435 variant is associated with higher plasma nelfinavir levels and more rapid virologic response in HIV-1 infected children. AIDS. 2005;19:371-80.
7. Tsuchiya K, Gatanaga H, Tachikawa N, Teruya K, Kikuchi Y, Yoshino M, 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;319:1322-6.
8. Winzer R, Langmann P, Zilly M, Tollmann F, Schubert J, Klinker H, et al. No influence of the P-glycoprotein genotype (MDR1 C3435T) on plasma levels of lopinavir and efavirenz during antiretroviral treatment. Eur J Med Res. 2003;8:531-4.
9. Zhu D, Taguchi-Nakamura H, Goto M, Odawara T, Nakamura T, Yamada H, et al. Influence of single-nucleotide polymorphisms in the multidrug resistance-1 gene on the cellular export of nelfinavir and its clinical implication for highly active antiretroviral therapy. Antivir Ther. 2004;9:929-35.
10. Fellay J, Marzolini C, Meaden ER, Back DJ, Buclin T, Chave JP, et al. Response to antiretroviral treatment in HIV-1-infected individuals with allelic variants of the multidrug resistance transporter 1: a pharmacogenetics study. Lancet. 2002;359:30-6.
11. Rodríguez NS, Barreiro P, Rendon A, Barrios A, Corral A, Jiménez-Nacher I, et al. Plasma levels of atazanavir and the risk of hyperbilirubinemia are predicted by the 3435C - > T polymorphism at the multidrug resistance gene 1. Clin Infect Dis. 2006;42:291-5.
12. Huisman MT, Smit JW, Schinkel AH. Significance of P-glycoprotein for the pharmacology and clinical use of HIV protease inhibitors. AIDS. 2000;14:237-42.
13. Owen A, Cook C, Youle M, Back DJ, Khoo SH. Multi-locus host genetic influences on nevirpaine pharmacokinetics. 7th International Workshop on Clinical Pharmacology of HIV Therapy; 2006 20-22 April; Lisbon, Portugal.
14. Schuetz JD, Connelly MC, Sun D, Paibir SG, Flynn PM, Srinivas RV, et al. MRP4: A previously unidentified factor in resistance to nucleoside-based antiviral drugs. Nat Med. 1999;5:1048-51.
15. Wijnholds J, Mol CA, Van Deemter L, De Haas M, Scheffer GL, Baas F, et al. Multidrug-resistance protein 5 is a multispecific organic anion transporter able to transport nucleotide analogs. Proc Natl Acad Sci USA. 2000;97:7476-81.
16. Ray AS, Vela JE, Robinson KL, Cihlar T, Rhodes GR. Efflux of tenofovir by the multidrug resistance-associated protein 4 (MRP4) is not affected by HIV protease inhibitors. 7th Internation Workshop on Adverse Drug Reactions and Lipodystrophy in HIV; 2005 13-16 Novembe; Dublin, Ireland.
17. Saito S, Iida A, Sekine A, Miura Y, Ogawa C, Kawauchi S, et al. Identification of 779 genetic variations in eight genes encoding members of the ATP-binding cassette, subfamily C (ABCC/MRP/CFTR). J Hum Genet. 2002;47:147-71.
18. Kiser JJ, Aquilante CL, Anderson PL, Wolfe P, Carten ML, Fletcher CV. Effect of multidrug resistance proteins 2 and 4 polymorphisms on tenofovir pharmacokinetics in HIV-infected patients. 7th International Workshop on Clinical Pharmacology of HIV Therapy; 2006 20-22 April; Lisbon, Portugal.
19. Izzedine H, Launay-Vacher V, Deray G. Renal tubular transporters and antiviral drugs: an update. AIDS. 2005;19:455-62.
20. Fujita T, Brown C, Carlson EJ, Taylor T, De la Cruz M, Johns SJ, et al. Functional analysis of polymorphisms in the organic anion transporter, SLC22A6 (TAO1). Pharmacogenet Genomics. 2005;15:201-9.
21. Kerb R, Brinkmann U, Chatskaia N, Gorbunov D, Gorboulev V, Mornhinweg E, et al. Identification of genetic variations of the human organic cation transporter hOCT1 and their functional consequences. Pharmacogenetics. 2002;12:591-5.
22. Rotger M, Csajka C, Telenti A. Genetic, ethnic and gender diferences in the pharmacokinetics of antiretroviral agents. Current HIV/AIDS reports. 2006;3:118-25.
23. Frohlich M, Hoffmann MM, Burhenne J, Mikus G, Weiss J, Haefeli WE. Association of the CYP3A5 A6986G (CYP3A5*3) polymorphism with saquinavir pharmacokinetics. Br J Clin Pharmacol. 2004;58:443-4.
24. Mouly SJ, Matheny C, Paine MF, Smith G, Lamba J, Lamba V, et al. Variation in oral clearance of saquinavir is predicted by CYP3A5*1 genotype but not by enterocyte content of cytochrome P-450 3A5. Clin Pharmacol Ther. 2005;78:605-18.
25. Eap CB, Buclin T, Cucchia G, Zullino D, Hustert E, Bleiber G, et al. Oral administration of a low dose of midazolam (75 microg) as an in vivo probe for CYP3A activity. Eur J Clin Pharmacol. 2004;60:237-46.
26. Lamba J, Strom S, Venkataramanan R, Thummel KE, Lin YS, Liu W, et al. MDR1 genotype is associated with hepatic cytochrome P-450 3A4 basal and induction phenotype. Clin Pharmacol Ther. 2006;79:325-38.
27. 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;15:861-73.
28. Rodríguez-Novoa S, Barreiro P, Rendon A, Jiménez-Nacher I, González-Lahoz J, Soriano V. 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;40:1358-61.
29. 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.
30. 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;16:191-8.
31. Rotger M, Colombo S, Cavassini M, Furrer H, Elzi L, Gunthard HF, et al. Genetic variability of CYP2B6 in individuals with extremely high efavirenz plasma concentrations. 13th Conference of Retroviruses and Opportunistic Infections; 2006; February 5-8; Denver, Colorado.
32. Chang TK, Bandiera SM, Chen J. Constitutive androstane receptor and pregnane X receptor gene expression in human liver: interindividual variability and correlation with CYP2B6 mRNA levels. Drug Metab Dispos. 2003;31:7-10.
33. Owen A, Chandler B, Back DJ, Khoo SH. Expression of pregnane-X-receptor transcript in peripheral blood mononuclear cells and correlation with MDR1 mRNA. Antivir Ther. 2004;9:819-21.
34. Synold TW, Dussault I, Forman BM. The orphan nuclear receptor SXR coordinately regulates drug metabolism and efflux. Nat Med. 2001;7:584-90.
35. Bosch TM, Deenen M, Pruntel R, Smits PH, Schellens JH, Beijnen JH, et al. Screening for polymorphisms in the PXR gene in a Dutch population. Eur J Clin Pharmacol. 2006;62:395-9.
36. Hustert E, Zibat A, Presecan-Siedel E, Eiselt R, Mueller R, Fuss C, et al. Natural protein variants of pregnane X receptor with altered transactivation activity toward CYP3A4. Drug Metab Dispos. 2001;29:1454-9.
37. Ikeda S, Kurose K, Ozawa S, Sai K, Hasegawa R, Komamura K, et al. Twenty-six novel single nucleotide polymorphisms and their frequencies of the NR1I3 (CAR) gene in a Japanese population. Drug Metab Pharmacokinet. 2003;18:413-8.
38. Koyano S, Kurose K, Ozawa S, Saeki M, Nakajima Y, Hasegawa R, et al. Eleven novel single nucleotide polymorphisms in the NR1I2 (PXR) gene, four of which induce non-synonymous amino acid alterations. Drug Metab Pharmacokinet. 2002;17:561-5.
39. Koyano S, Kurose K, Saito Y, Ozawa S, Hasegawa R, Komamura K, et al. Functional characterization of four naturally occurring variants of human pregnane X receptor (PXR): one variant causes dramatic loss of both DNA binding activity and the transactivation of the CYP3A4 promoter/enhancer region. Drug Metab Dispos. 2004;32:149-54.
40. Zhang J, Kuehl P, Green ED, Touchman JW, Watkins PB, Daly A, et al. The human pregnane X receptor: genomic structure and identification and functional characterization of natural allelic variants. Pharmacogenetics. 2001;11:555-72.
41. Yuasa I, Weidinger S, Umetsu K, Suenaga K, Ishimoto G, Eap BC, et al. Orosomucoid system: 17 additional orosomucoid variants and proposal for a new nomenclature. Vox Sang. 1993;64:47-55.
42. Yuasa I, Umetsu K, Vogt U, Nakamura H, Nanba E, Tamaki N, et al. Human orosomucoid polymorphism: molecular basis of the three common ORM1 alleles, ORM1*F1, ORM1*F2, and ORM1*S. Hum Genet. 1997;99:393-8.
43. Colombo S, Buclin T, Decosterd L, Telenti A, Furrer H, Lee-Tauber B, et al. Orosomucoid (alpha(1)-acid glycoprotein) plasma concentration and genetic variants: Effects on human immunodeficiency virus protease inhibitor clearance and cellular accumulation. Clin Pharmacol Ther. 2006;80:307-18.
44. Hetherington S, Hughes AR, Mosteller M, Shortino D, Baker KL, Spreen W, et al. Genetic variations in HLA-B region and hypersensitivity reactions to abacavir. Lancet. 2002;359:1121-2.
45. Mallal S, Nolan D, Witt C, Masel G, Martin AM, Moore C, et al. Association between presence of HLA-B*5701, HLA-DR7, and HLA-DQ3 and hypersensitivity to HIV-1 reverse-transcriptase inhibitor abacavir. Lancet. 2002;359:727-32.
46. Martin AM, Nolan D, James I, Cameron P, Keller J, Moore C, et al. Predisposition to nevirapine hypersensitivity associated with HLA-DRB1*0101 and abrogated by low CD4 T-cell counts. AIDS. 2005;19:97-9.
47. Behrens G, Schmidt HH, Stoll M, Schmidt RE. ApoE genotype and protease-inhibitor-associated hyperlipidaemia. Lancet. 1999;354:76.
48. Fauvel J, Bonnet E, Ruidavets JB, Ferrieres J, Toffoletti A, Massip P, et al. An interaction between apo C-III variants and protease inhibitors contributes to high triglyceride/low HDL levels in treated HIV patients. AIDS. 2001;15:2397-406.
49. Tarr PE, Taffe P, Bleiber G, Furrer H, Rotger M, Martinez R, et al. Modeling the influence of APOC3, APOE, and TNF polymorphisms on the risk of antiretroviral therapy-associated lipid disorders. J Infect Dis. 2005;191:1419-26.
50. Arnedo M, Taffe P, Furrer H, Hirschel B, Battegay M, Weber R, et al. Modeling theonfluence of polymorphisms of several genes Involved in lipid metabolism on the risk of antiretroviral therapy-associated dyslipidemia. 13th Conference of Retroviruses and Opportunistic Infections; 2006; February 5-8; Denver, Colorado.
51. Maher B, Alfirevic A, Vilar FJ, Wilkins EG, Park BK, Pirmohamed M. TNF-alpha promoter region gene polymorphisms in HIV-positive patients with lipodystrophy. AIDS. 2002;16:2013-8.
52. Nolan D, Moore C, Castley A, Sayer D, Mamotte C, John M, et al. Tumour necrosis factor-alpha gene -238G/A promoter polymorphism associated with a more rapid onset of lipodystrophy. AIDS. 2003;17:121-3.
53. Rotger M, Taffe P, Bleiber G, Gunthard HF, Furrer H, Vernazza P, et al. Gilbert syndrome and the development of antiretroviral therapy-associated hyperbilirubinemia. J Infect Dis. 2005;192:1381-6.
54. Rotger M, Taffe P, Bleiber G, Gunthard HF, Furrer H, Vernazza P, et al. Contribution of genetic polymorphisms in UGT1A1 and SLCO1B1 to the development of antiretroviral therapy-associated hyperbilirubinemia. 45th International Conference on Antimicrobial Agents and Chemotherapy; 2006 December 16-19 2005; Washington, DC.
55. Boyd MA, Srasuebkul P, Ruxrungtham K, Mackenzie PI, Uchaipichat V, Stek M Jr, et al. Relationship between hyperbilirubinaemia and UDP- glucuronosyltransferase 1A1 (UGT1A1) polymorphism in adult HIV-infected Thai patients treated with indinavir. Pharmacogenet Genomics. 2006;16:321-9.
56. Felley C, Morris MA, Wonkam A, Hirschel B, Flepp M, Wolf K, et al. The role of CFTR and SPINK-1 mutations in pancreatic disorders in HIV-positive patients: a case-control study. AIDS. 2004;18:1521-7.
57. Bogner JR, Lutz B, Klein HG, Pollerer C, Troendle U, Goebel FD. Association of highly active antiretroviral therapy failure with chemokine receptor 5 wild type. HIV Med. 2004;5:264-72.
58. Brumme ZL, Henrick BM, Brumme CJ, Hogg RS, Montaner JS, Harrigan PR. Short communication. Association of the CCR5delta32 mutation with clinical response and > 5-year survival following initiation of first triple antiretroviral regimen. Antivir Ther. 2005;10:849-53.
59. Guerin S, Meyer L, Theodorou I, Boufassa F, Magierowska M, Goujard C, et al. CCR5 delta32 deletion and response to highly active antiretroviral therapy in HIV-1-infected patients. AIDS. 2000;14:2788-90.
60. Valdez H, Purvis SF, Lederman MM, Fillingame M, Zimmerman PA. Association of the CCR5delta32 mutation with improved response to antiretroviral therapy. JAMA. 1999;282:734.
61. Bratt G, Karlsson A, Leandersson AC, Albert J, Wahren B, Sandstrom E. Treatment history and baseline viral load, but not viral tropism or CCR-5 genotype, influence prolonged antiviral efficacy of highly active antiretroviral treatment. AIDS. 1998;12:2193-202.
62. O'Brien TR, McDermott DH, Ioannidis JP, Carrington M, Murphy PM, Havlir DV, et al. Effect of chemokine receptor gene polymorphisms on the response to potent antiretroviral therapy. AIDS. 2000;14:821-6.
63. Wit FW, Van Rij RP, Weverling GJ, Lange JM, Schuitemaker H. CC chemokine receptor 5 delta32 and CC chemokine receptor 2 64I polymorphisms do not influence the virologic and immunologic response to antiretroviral combination therapy in human immunodeficiency virus type 1-infected patients. J Infect Dis. 2002;186:1726-32.
64. Brumme ZL, Dong WW, Chan KJ, Hogg RS, Montaner JS, O'Shaughnessy MV, et al. Influence of polymorphisms within the CX3CR1 and MDR-1 genes on initial antiretroviral therapy response. AIDS. 2003;17:201-8.
65. Haas DW, Wu H, Li H, Bosch RJ, Lederman MM, Kuritzes D, et al. MDR1 gene polymorphisms and phase 1 viral decay during HIV-1 infection: an adult AIDS Clinical Trials Group study. J Acquir Immune Defic Syndr. 2003;34:295-8.
66. Nasi M, Borghi V, Pinti M, Bellodi C, Lugli E, Maffei S, et al. MDR1 C3435T genetic polymorphism does not influence the response to antiretroviral therapy in drug-naive HIV-positive patients. AIDS. 2003;17:1696-8.
67. Verstuyft C, Marcellin F, Morand-Joubert L, Launay O, Brendel K, Mentre F, et al. Absence of association between MDR1 genetic polymorphisms, indinavir pharmacokinetics and response to highly active antiretroviral therapy. AIDS. 2005;19:2127-31.
68. Meyer UA. Pharmacogenetics - five decades of therapeutic lessons from genetic diversity. Nat Rev Genet. 2004;5:669-76.
69. Altshuler D, Brooks LD, Chakravarti A, Collins FS, Daly MJ, Donnelly P. A haplotype map of the human genome. Nature. 2005;437:1299-320.
70. FDA Clears Genetic Test That Advances Personalized Medicine. Test Helps Determine Safety of Drug Therapy. Disponible en: http://www.fda.gov/bbs/topics/ NEWS/2005/NEW01220.html
71. Hughes AR, Mosteller M, Bansal AT, Davies K, Haneline SA, Lai EH, et al. Association of genetic variations in HLA-B region with hypersensitivity to abacavir in some, but not all, populations. Pharmacogenomics. 2004;5:203-11.