Pharmacogenetic approach for a better drug treatment in children

Current Pharmaceutical Design

Volumn 16, Issue 22, 2010, Pages 2462-2473

  Polanczyk, Guilherme ^a,b   Bigarella, Marcelo P ^a   Hutz, Mara H ^c   Rohde, Luis Augusto ^b,d  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b Institute for Developmental Psychiatry (INCT CNPq)   (Brazil)

^c FEDERAL UNIVERSITY OF RIO GRANDE DO SUL   (Brazil)

^d HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

Author keywords

ADHD; Atomoxetine; Autism; Childhood mental disorders; Depression; Methylphenidate; Pharmacogenetics; Pharmacogenomics; Selective serotonin reuptake inhibitor

Indexed keywords

ALPHA ADRENERGIC RECEPTOR; ATOMOXETINE; CARBOXYLESTERASE; CARBOXYLESTERASE 1; CATECHOL METHYLTRANSFERASE; CITALOPRAM; CLONIDINE; CYTOCHROME P450; DOPAMINE 4 RECEPTOR; DOPAMINE TRANSPORTER; FLUVOXAMINE; GUANFACINE; METHYLPHENIDATE; NICOTINIC RECEPTOR ALPHA4; NORADRENALIN TRANSPORTER; SEROTONIN TRANSPORTER; SYNAPTOSOMAL ASSOCIATED PROTEIN 25; UNCLASSIFIED DRUG;

ANXIETY DISORDER; ATTENTION DEFICIT DISORDER; AUTISM; DEPRESSION; DRUG EFFECT; DRUG MECHANISM; GENETIC ASSOCIATION; HUMAN; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN POLYMORPHISM; REVIEW; SYSTEMATIC REVIEW; TREATMENT OUTCOME; TREATMENT RESPONSE;

ADOLESCENT; ATTENTION DEFICIT DISORDER WITH HYPERACTIVITY; CHILD; CLINICAL TRIALS AS TOPIC; DOPAMINE PLASMA MEMBRANE TRANSPORT PROTEINS; HUMANS; METHYLPHENIDATE; PHARMACOGENETICS; POLYMORPHISM, GENETIC; PROPYLAMINES; RECEPTORS, DOPAMINE D4; SEROTONIN UPTAKE INHIBITORS; TREATMENT OUTCOME;

EID: 77955638591     PISSN: 13816128     EISSN: None     Source Type: Journal    
DOI: 10.2174/138161210791959872     Document Type: Review

References (91)

1. McVoy M, Findling R. Child and adolescent psychopharmacology update. Psychiatr Clin North Am 2009; 32: 111-33.
2. Husain A, Loehle JA, Hein DW. Clinical pharmacogenetics in pediatric patients. Pharmacogenomics 2007; 8: 1403-11.
3. Leeder JS. Developmental and pediatric pharmacogenomics. Pharmacogenomics 2003; 4: 331-41.
4. Evans WE, Johnson JA. Pharmacogenomics: the inherited basis for interindividual differences in drug response. Annu Rev Genomics Hum Genet 2001; 2: 9-39.
5. Masellis M, Basile VS, Muglia P, et al. Psychiatric pharmacogenetics: personalizing psychostimulant therapy in attentiondeficit/ hyperactivity disorder. Behav Brain Res 2002; 130: 85-90.
6. Evans WE, McLeod HL. Pharmacogenomics--drug disposition, drug targets, and side effects. N Engl J Med 2003; 348: 538-49.
7. Weinshilboum R. Inheritance and drug response. N Engl J Med 2003; 348: 529-37.
8. Hines RN, McCarver DG. Pharmacogenomics and the future of drug therapy. Pediatr Clin North Am 2006; 53: 591-619.
9. DeVeaugh-Geiss J, March J, Shapiro M, et al. Child and adolescent psychopharmacology in the new millennium: a workshop for academia, industry, and government. J Am Acad Child Adolesc Psychiatry 2006; 45: 261-70.
10. Scheffer RE. Psychopharmacology: clinical implications of brain neurochemistry. Pediatr Clin North Am 2006; 53: 767-75.
11. Marsh R, Gerber AJ, Peterson BS. Neuroimaging studies of normal brain development and their relevance for understanding childhood neuropsychiatric disorders. J Am Acad Child Adolesc Psychiatry 2008; 47: 1233-51.
12. Need AC, Motulsky AG, Goldstein DB. Priorities and standards in pharmacogenetic research. Nat Genet 2005; 37: 671-81.
13. Sadee W, Dai Z. Pharmacogenetics/genomics and personalized medicine. Hum Mol Genet 2005; 14: R207-214.
14. Rieder MJ, Reiner AP, Gage BF, et al. Effect of VKORC1 haplotypes on transcriptional regulation and warfarin dose. N Engl J Med 2005; 352: 2285-93.
15. Daly AK, Donaldson PT, Bhatnagar P, et al. HLA-B*5701 genotype is a major determinant of drug-induced liver injury due to flucloxacillin. Nat Genet 2009; 41: 816-9.
16. Kronenberg S, Frisch A, Rotberg B, et al. Pharmacogenetics of selective serotonin reuptake inhibitors in pediatric depression and anxiety. Pharmacogenomics 2008; 9: 1725-36.
17. Polanczyk G, Zeni C, Genro JP, et al. Attention-deficit/hyperactivity disorder: advancing on pharmacogenomics. Pharmacogenomics 2005; 6: 225-34.
18. Evans WE, Relling MV. Pharmacogenomics: translating functional genomics into rational therapeutics. Science 1999; 286: 487-91.
19. Rohde LA, Roman T, Hutz MH. Attention-deficit/hyperactivity disorder: current aspects on pharmacogenetics. Pharmacogenomics J 2003; 3: 11-3.
20. Bondy B, Zill P. Pharmacogenetics and psychopharmacology. Curr Opin Pharmacol 2004; 4: 72-8.
21. Murphy DL, Lerner A, Rudnick G, et al. Serotonin transporter: gene, genetic disorders, and pharmacogenetics. Mol Interv 2004; 4: 109-23.
22. Rohde LA, Zeni C, Polanczyk G, et al. New insights on attentiondeficit/ hyperactivity disorder pharmacogenomics. Drug Dev Res 2004; 62: 172-9.
23. McGough JJ. Attention-deficit/hyperactivity disorder pharmacogenomics. Biol Psychiatry 2005; 57: 1367-73.
24. Stein MA, McGough JJ. The pharmacogenomic era: promise for personalizing attention deficit hyperactivity disorder therapy. Child Adolesc Psychiatr Clin N Am 2008; 17: 475-90, xi-xii.
25. Froehlich TE, McGough JJ, Stein MA. Progress and promise of attention-deficit hyperactivity disorder pharmacogenetics. CNS Drugs 2010; 24: 99-117.
26. Kieling C, Genro JP, Hutz MH, et al. A current update on ADHD pharmacogenomics. Pharmacogenomics 2010; 11: x-xx.
27. Solanto MV. Neuropsychopharmacological mechanisms of stimulant drug action in attention-deficit hyperactivity disorder: a review and integration. Behav Brain Res 1998; 94: 127-52.
28. Faraone SV, Biederman J. Neurobiology of attention-deficit hyperactivity disorder. Biol Psychiatry 1998; 44: 951-8.
29. Swanson JM, Flodman P, Kennedy J, et al. Dopamine genes and ADHD. Neurosci Biobehav Rev 2000; 24: 21-5.
30. Swanson JM, Kinsbourne M, Nigg J, et al. Etiologic subtypes of attention-deficit/hyperactivity disorder: brain imaging, molecular genetic and environmental factors and the dopamine hypothesis. Neuropsychol Rev 2007; 17: 39-59.
31. Faraone SV, Khan SA. Candidate gene studies of attentiondeficit/ hyperactivity disorder. J Clin Psychiatry 2006; 67 (Suppl 8): 13-20.
32. Ciliax BJ, Drash GW, Staley JK, et al. Immunocytochemical localization of the dopamine transporter in human brain. J Comp Neurol 1999; 409: 38-56.
33. Volkow ND, Wang GJ, Fowler JS, et al. Imaging the effects of methylphenidate on brain dopamine: new model on its therapeutic actions for attention-deficit/hyperactivity disorder. Biol Psychiatry 2005; 57: 1410-5.
34. Heinz A, Goldman D, Jones DW, et al. Genotype influences in vivo dopamine transporter availability in human striatum. Neuropsychopharmacology 2000; 22: 133-9.
35. Jacobsen LK, Staley JK, Zoghbi SS, et al Prediction of dopamine transporter binding availability by genotype: a preliminary report. Am J Psychiatry 2000; 157: 1700-3.
36. Mill J, Asherson P, Browes C, et al. Expression of the dopamine transporter gene is regulated by the 3' UTR VNTR: Evidence from brain and lymphocytes using quantitative RT-PCR. Am J Med Genet 2002; 114: 975-9.
37. Gizer IR, Ficks C, Waldman ID. Candidate gene studies of ADHD: a meta-analytic review. Hum Genet 2009; 126: 51-90.
38. Roman T, Rohde LA, Hutz MH. Polymorphisms of the dopamine transporter gene: influence on response to methylphenidate in attention deficit-hyperactivity disorder. Am J Pharmacogenomics 2004; 4: 83-92.
39. Winsberg BG, Comings DE. Association of the dopamine transporter gene (DAT1) with poor methylphenidate response. J Am Acad Child Adolesc Psychiatry 1999; 38: 1474-7.
40. Roman T, Szobot C, Martins S, et al. Dopamine transporter gene and response to methylphenidate in attention-deficit/hyperactivity disorder. Pharmacogenetics 2002; 12: 497-9.
41. Cheon KA, Ryu YH, Kim JW, et al. The homozygosity for 10- repeat allele at dopamine transporter gene and dopamine transporter density in Korean children with attention deficit hyperactivity disorder: relating to treatment response to methylphenidate. Eur Neuropsychopharmacol 2005; 15: 95-101.
42. Purper-Ouakil D, Wohl M, Orejarena S, et al. Pharmacogenetics of methylphenidate response in attention deficit/hyperactivity disorder: association with the dopamine transporter gene (SLC6A3). Am J Med Genet B Neuropsychiatr Genet 2008; 147B: 1425-30.
43. Kirley A, Lowe N, Hawi Z, et al. Association of the 480 bp DAT1 allele with methylphenidate response in a sample of Irish children with ADHD. Am J Med Genet B Neuropsychiatr Genet 2003; 121B: 50-4.
44. Joober R, Grizenko N, Sengupta S, et al. Dopamine transporter 3'- UTR VNTR genotype and ADHD: a pharmaco-behavioural genetic study with methylphenidate. Neuropsychopharmacology 2007; 32: 1370-6.
45. Bellgrove MA, Hawi Z, Kirley A, et al. Association between dopamine transporter (DAT1) genotype, left-sided inattention, and an enhanced response to methylphenidate in attention-deficit hyperactivity disorder. Neuropsychopharmacology 2005; 30: 2290-7.
46. Stein MA, Waldman ID, Sarampote CS, et al. Dopamine transporter genotype and methylphenidate dose response in children with ADHD. Neuropsychopharmacology 2005; 30: 1374-82.
47. Gruber R, Joober R, Grizenko N, et al. Dopamine transporter genotype and stimulant side effect factors in youth diagnosed with attention-deficit/hyperactivity disorder. J Child Adolesc Psychopharmacol 2009; 19: 233-9.
48. Leddy JJ, Waxmonsky JG, Salis RJ, et al. Dopamine-related genotypes and the dose-response effect of methylphenidate on eating in attention-deficit/hyperactivity disorder youths. J Child Adolesc Psychopharmacol 2009; 19: 127-36.
49. Rohde LA, Roman T, Szobot C, et al. Dopamine transporter gene, response to methylphenidate and cerebral blood flow in attentiondeficit/ hyperactivity disorder: a pilot study. Synapse 2003; 48: 87-9.
50. Loo SK, Specter E, Smolen A, et al. Functional effects of the DAT1 polymorphism on EEG measures in ADHD. J Am Acad Child Adolesc Psychiatry 2003; 42: 986-93.
51. Gilbert DL, Wang Z, Sallee FR, et al. Dopamine transporter genotype influences the physiological response to medication in ADHD. Brain 2006; 129: 2038-46.
52. Kereszturi E, Tarnok Z, Bognar E, et al. Catechol-O-methyltransferase Val158Met polymorphism is associated with methylphenidate response in ADHD children. Am J Med Genet B Neuropsychiatr Genet 2008; 147B: 1431-5.
53. Zeni CP, Guimaraes AP, Polanczyk GV, et al. No significant association between response to methylphenidate and genes of the dopaminergic and serotonergic systems in a sample of Brazilian children with attention-deficit/hyperactivity disorder. Am J Med Genet B Neuropsychiatr Genet 2007; 144B: 391-4.
54. Langley K, Turic D, Peirce TR, et al. No support for association between the dopamine transporter (DAT1) gene and ADHD. Am J Med Genet B Neuropsychiatr Genet 2005; 139B: 7-10.
55. van der Meulen EM, Bakker SC, Pauls DL, et al. High sibling correlation on methylphenidate response but no association with DAT1-10R homozygosity in Dutch sibpairs with ADHD. J Child Psychol Psychiatry 2005; 46: 1074-80.
56. Tharoor H, Lobos EA, Todd RD, et al. Association of dopamine, serotonin, and nicotinic gene polymorphisms with methylphenidate response in ADHD. Am J Med Genet B Neuropsychiatr Genet 2008; 147B: 527-30.
57. Noain D, Avale ME, Wedemeyer C, et al. Identification of brain neurons expressing the dopamine D4 receptor gene using BAC transgenic mice. Eur J Neurosci 2006; 24: 2429-38.
58. Asghari V, Sanyal S, Buchwaldt S, et al. Modulation of intracellular cyclic AMP levels by different human dopamine D4 receptor variants. J Neurochem 1995; 65: 1157-65.
59. Tahir E, Yazgan Y, Cirakoglu B, et al. Association and linkage of DRD4 and DRD5 with attention deficit hyperactivity disorder (ADHD) in a sample of Turkish children. Mol Psychiatry 2000; 5: 396-404.
60. Hamarman S, Fossella J, Ulger C, et al. Dopamine receptor 4 (DRD4) 7-repeat allele predicts methylphenidate dose response in children with attention deficit hyperactivity disorder: a pharmacogenetic study. J Child Adolesc Psychopharmacol 2004; 14: 564-74.
61. McGough J, McCracken J, Swanson J, et al. Pharmacogenetics of methylphenidate response in preschoolers with ADHD. J Am Acad Child Adolesc Psychiatry 2006; 45: 1314-22.
62. Cheon KA, Kim BN, Cho SC. Association of 4-repeat allele of the dopamine D4 receptor gene exon III polymorphism and response to methylphenidate treatment in Korean ADHD children. Neuropsychopharmacology 2007; 32: 1377-83.
63. Cheon KA, Jun JY, Cho DY. Association of the catechol-Omethyltransferase polymorphism with methylphenidate response in a classroom setting in children with attention-deficit hyperactivity disorder. Int Clin Psychopharmacol 2008; 23: 291-8.
64. Tunbridge EM, Harrison PJ, Weinberger DR. Catechol-o-methyltransferase, cognition, and psychosis: Val158Met and beyond. Biol Psychiatry 2006; 60: 141-51.
65. Pliszka SR, McCracken JT, Maas JW. Catecholamines in attentiondeficit hyperactivity disorder: current perspectives. J Am Acad Child Adolesc Psychiatry 1996; 35: 264-72.
66. Arnsten AF, Li BM. Neurobiology of executive functions: catecholamine influences on prefrontal cortical functions. Biol Psychiatry 2005; 57: 1377-84.
67. Kuczenski R, Segal DS. Stimulant actions in rodents: implications for attention-deficit/hyperactivity disorder treatment and potential substance abuse. Biol Psychiatry 2005; 57: 1391-6.
68. Biederman J, Spencer T, Wilens T. Evidence-based pharmacotherapy for attention-deficit hyperactivity disorder. Int J Neuropsychopharmacol 2004; 7: 77-97.
69. Arnsten AF, Steere JC, Hunt RD. The contribution of alpha 2- noradrenergic mechanisms of prefrontal cortical cognitive function. Potential significance for attention-deficit hyperactivity disorder. Arch Gen Psychiatry 1996; 53: 448-55.
70. Arnsten AF, Dudley AG. Methylphenidate improves prefrontal cortical cognitive function through alpha2 adrenoceptor and dopamine D1 receptor actions: relevance to therapeutic effects in attention deficit hyperactivity disorder. Behav Brain Funct 2005; 1: 2.
71. Andrews GD, Lavin A. Methylphenidate increases cortical excitability via activation of alpha-2 noradrenergic receptors. Neuropsychopharmacology 2006; 31: 594-601.
72. Roman T, Polanczyk GV, Zeni C, et al. Further evidence of the involvement of alpha-2A-adrenergic receptor gene (ADRA2A) in inattentive dimensional scores of attention-deficit/hyperactivity disorder. Mol Psychiatry 2006; 11: 8-10.
73. Roman T, Schmitz M, Polanczyk GV, et al. Is the alpha-2A adrenergic receptor gene (ADRA2A) associated with attentiondeficit/ hyperactivity disorder? Am J Med Genet B Neuropsychiatr Genet 2003; 120B: 116-20.
74. Polanczyk G, Zeni C, Genro JP, et al. Association of the adrenergic alpha2A receptor gene with methylphenidate improvement of inattentive symptoms in children and adolescents with attentiondeficit/ hyperactivity disorder. Arch Gen Psychiatry 2007; 64: 218-24.
75. da Silva TL, Pianca TG, Roman T, et al. Adrenergic alpha2A receptor gene and response to methylphenidate in attentiondeficit/ hyperactivity disorder-predominantly inattentive type. J Neural Transm 2008; 115: 341-5.
76. Cheon KA, Cho DY, Koo MS, et al. Association between homozygosity of a G allele of the alpha-2a-adrenergic receptor gene and methylphenidate response in Korean children and adolescents with attention-deficit/hyperactivity disorder. Biol Psychiatry 2009; 65: 564-70.
77. Yang L, Wang YF, Li J, et al. Association of norepinephrine transporter gene with methylphenidate response. J Am Acad Child Adolesc Psychiatry 2004; 43: 1154-8.
78. Ramoz N, Boni C, Downing AM, et al. A haplotype of the norepinephrine transporter (Net) gene Slc6a2 is associated with clinical response to atomoxetine in attention-deficit hyperactivity disorder (ADHD). Neuropsychopharmacology 2009; 34: 2135-42.
79. Faraone SV, Perlis RH, Doyle AE, et al. Molecular genetics of attention-deficit/hyperactivity disorder. Biol Psychiatry 2005; 57: 1313-23.
80. Seeger G, Schloss P, Schmidt MH. Marker gene polymorphisms in hyperkinetic disorder--predictors of clinical response to treatment with methylphenidate? Neurosci Lett 2001; 313: 45-8.
81. Guimaraes AP, Zeni C, Polanczyk G, et al. MAOA is associated with methylphenidate improvement of oppositional symptoms in boys with attention deficit hyperactivity disorder. Int J Neuropsychopharmacol 2009; 12: 709-14.
82. Sauer JM, Ponsler GD, Mattiuz EL, et al. Disposition and metabolic fate of atomoxetine hydrochloride: the role of CYP2D6 in human disposition and metabolism. Drug Metab Dispos 2003; 31: 98-107.
83. Michelson D, Read HA, Ruff DD, et al. CYP2D6 and clinical response to atomoxetine in children and adolescents with ADHD. J Am Acad Child Adolesc Psychiatry 2007; 46: 242-51.
84. Nemoda Z, Angyal N, Tarnok Z, et al. Carboxylesterase 1 gene polymorphism and methylphenidate response in ADHD. Neuropharmacology 2009; 57(7-8): 731-3.
85. Mick E, Neale B, Middleton FA, et al. Genome-wide association study of response to methylphenidate in 187 children with attention-deficit/hyperactivity disorder. Am J Med Genet B Neuropsychiatr Genet 2008; 147B: 1412-8.
86. Sugie Y, Sugie H, Fukuda T, et al. Clinical efficacy of fluvoxamine and functional polymorphism in a serotonin transporter gene on childhood autism. J Autism Dev Disord 2005; 35: 377-85.
87. Kronenberg S, Apter A, Brent D, et al. Serotonin transporter polymorphism (5-HTTLPR) and citalopram effectiveness and side effects in children with depression and/or anxiety disorders. J Child Adolesc Psychopharmacol 2007; 17: 741-50.
88. Polanczyk G, Faraone SV, Bau CH, et al. The impact of individual and methodological factors in the variability of response to methylphenidate in ADHD pharmacogenetic studies from four different continents. Am J Med Genet B Neuropsychiatr Genet 2008; 147B: 1419-24.
89. Kirchheiner J, Seeringer A, Viviani R. Pharmacogenetics in psychiatry-- a useful clinical tool or wishful thinking for the future? Curr Pharm Des 2010; 16(2): 136-144.
90. Raaijmakers JA, Koster ES, Maitland-van der Zee AH. Pharmacogenetics and the pharmaceutical industry. Curr Pharm Des 2010; 16(2): 238-244.
91. Vandel P, Talon JM, Haffen E, Sechter D. Pharmacogenetics and drug therapy in psychiatry--the role of the CYP2D6 polymorphism. Curr Pharm Des 2007; 13(2): 241-250.