Toward Personalized Medicine in the Neuropsychiatric Field

International Review of Neurobiology - Tập 101 - Trang 329-349 - 2011
Erik H.F. Wong1, Jayne C. Fox2, Mandy Y.M. Ng2, Chi-Ming Lee3
1AstraZeneca Pharmaceuticals, External Science, CNS-Pain Innovative Medicine Unit, Wilmington, Delaware, USA
2AstraZeneca Pharmaceuticals, Personalized Health Care and Biomarkers, Alderley Park, Macclesfield, Cheshire, United Kingdom
3AstraZeneca Pharmaceuticals, Discovery Enabling Capabilities & Sciences, Alderley Park, Macclesfield, Cheshire, United Kingdom

Tài liệu tham khảo

Abbott, 2010, Schizophrenia: the drug deadlock, Nature, 468, 158, 10.1038/468158a Agid, 2007, How can drug discovery for psychiatric disorders be improved?, Nat. Rev. Drug Discov., 6, 189, 10.1038/nrd2217 Bergeron, 2007, Endogenous N-acetylaspartylglutamate reduced NMDA receptor-dependent current neurotransmission in the CA1 area of the hippocampus, J. Neurochem., 100, 346, 10.1111/j.1471-4159.2006.04253.x Bertilsson, 2002, Molecular genetics of CYP2D6: clinical relevance with focus on psychotropic drugs, Br. J. Clin. Pharmacol., 53, 111, 10.1046/j.0306-5251.2001.01548.x Binneman, 2008, A 6-week randomized, placebo-controlled trial of CP-316,311 (a selective CRH1 antagonist) in the treatment of major depression, Am. J. Psychiatry, 165, 617, 10.1176/appi.ajp.2008.07071199 Bloss, 2011, Effect of direct-to-consumer genome wide profiling to assess disease risk, N. Engl. J. Med., 364, 524, 10.1056/NEJMoa1011893 Brown, 2007, Treatment response in melancholia, Acta Psychiatr. Scand., 115, 125, 10.1111/j.1600-0447.2007.00970.x Cannon, 2006, Endophenotypes in the genetic analyses of mental disorders, Annu. Rev. Clin. Psychol., 2, 267, 10.1146/annurev.clinpsy.2.022305.095232 Casciano, 2006, Empowering microarrays in the regulatory setting, Nat. Biotechnol., 24, 1103, 10.1038/nbt0906-1103 Cirulli, 2010, Uncovering the roles of rare variants in common disease through whole-genome sequencing, Nat. Rev. Genet., 11, 415, 10.1038/nrg2779 Conn, 2008, Opportunities and challenges of psychiatric drug discovery: roles for scientists in academic, industry, and government settings, Neuropsychopharmacology, 33, 2048, 10.1038/sj.npp.1301638 Coyle, 1996, The glutamatergic dysfunction hypothesis for schizophrenia, Harv. Rev. Psychiatry, 3, 241, 10.3109/10673229609017192 Cryan, 2007, Animal models of mood disorders: recent developments, Curr. Opin. Psychiatry, 20, 1, 10.1097/YCO.0b013e3280117733 Deverka, 2009, Pharmacogenomics, evidence, and the role of payers, Public Health Genomics, 12, 149, 10.1159/000189627 Devlin, 1999, Genomic control for association studies, Biometrics, 55, 997, 10.1111/j.0006-341X.1999.00997.x Dick, 2006, Endophenotypes successfully lead to gene identification: results from the collaborative study on the genetics of alcoholism, Behav. Genet., 36, 112, 10.1007/s10519-005-9001-3 Domenici, 2010, Plasma protein biomarkers for depression and schizophrenia by multi analyte profiling of case-control collections, PLoS One, 5, e9166, 10.1371/journal.pone.0009166 Dorado, 2007, CYP2D6 polymorphism: implications for antipsychotic drug response, schizophrenia and personality traits, Pharmacogenomics, 8, 1597, 10.2217/14622416.8.11.1597 Druker, 2008, Translation of the Philadelphia chromosome into therapy for CML, Blood, 112, 4808, 10.1182/blood-2008-07-077958 Durbin, 2010, A map of human genome variation from population-scale sequencing, Nature, 467, 1061, 10.1038/nature09534 Egan, 2009, Effect of H3 inverse agonist MK-0249 on cognitive performance in patients with schizophrenia Farde, 1996, The advantage of using positron emission tomography in drug research, Trends Neurosci., 19, 211, 10.1016/0166-2236(96)40002-9 Fava, 2008, Difference in treatment outcome in outpatients with anxious versus nonanxious depression: a STAR*D report, Am. J. Psychiatry, 165, 342, 10.1176/appi.ajp.2007.06111868 Fisher, 2006, Capacity for 5-HT1A-mediated autoregulation predicts amygdala reactivity, Nat. Neurosci., 9, 1362, 10.1038/nn1780 Flordellis, 2005, The emergence of a new paradigm of pharmacogenomics, Pharmacogenomics, 6, 515, 10.2217/14622416.6.5.515 Franke, 2010, Pharmacogenetics of drug transporters, Curr. Pharm. Des., 16, 220, 10.2174/138161210790112683 Girirajan, 2010, Phenotypic variability and genetic susceptibility to genomic disorders, Hum. Mol. Genet., 19, R176, 10.1093/hmg/ddq366 Goate, 1991, Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease, Nature, 349, 704, 10.1038/349704a0 Gonzalez, 2008, Relation between CYP2D6 phenotype and genotype and personality in healthy volunteers, Pharmacogenomics, 9, 833, 10.2217/14622416.9.7.833 Goodsaid, 2006, Process map proposal for the validation of genomic biomarkers, Pharmacogenomics, 7, 773, 10.2217/14622416.7.5.773 Goodsaid, 2007, Implementing the U.S. FDA guidance on pharmacogenomic data submissions, Environ. Mol. Mutagen., 48, 354, 10.1002/em.20294 Gottesman, 2003, The endophenotype concept in psychiatry: etymology and strategic intentions, Am. J. Psychiatry, 160, 636, 10.1176/appi.ajp.160.4.636 Green, 2011, Charting a course for genomic medicine from base pairs to bedside, Nature, 470, 204, 10.1038/nature09764 Grinker, 2010, In retrospect: the five lives of the psychiatry manual, Nature, 468, 168, 10.1038/468168a Grozeva, 2010, Rare copy number variants: a point of rarity in genetic risk for bipolar disorder and schizophrenia, Arch. Gen. Psychiatry, 67, 318, 10.1001/archgenpsychiatry.2010.25 Guilmatre, 2009, Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation, Arch. Gen. Psychiatry, 66, 947, 10.1001/archgenpsychiatry.2009.80 Hardy, 2002, The amyloid hypothesis of Alzheimer's disease: progress and problems on the road to therapeutics, Science, 297, 353, 10.1126/science.1072994 Heekeren, 2008, Mismatch negativity generation in the human 5HT2A agonist and NMDA antagonist model of psychosis, Psychopharmacology (Berl.), 199, 77, 10.1007/s00213-008-1129-4 Herpfer, 2005, Substance P receptor antagonists in psychiatry: rationale for development and therapeutic potential, CNS Drugs, 19, 275, 10.2165/00023210-200519040-00001 Hong, 2010, A genetically modulated, intrinsic cingulate circuit supports human nicotine addiction, Proc. Natl. Acad. Sci. USA, 107, 13509, 10.1073/pnas.1004745107 Hughes, 2009, Novel consortium to address shortfall in innovative medicines for psychiatric disorders, Nat. Rev., 8, 523, 10.1038/nrd2939 Insel, 2009, Translating scientific opportunity into public health impact: a strategic plan for research on mental illness, Arch. Gen. Psychiatry, 66, 128, 10.1001/archgenpsychiatry.2008.540 Insel, 2009, Endophenotypes: bridging genomic complexity and disorder heterogeneity, Biol. Psychiatry, 66, 988, 10.1016/j.biopsych.2009.10.008 International HapMap Consortium, 2005, A haplotype map of the human genome, Nature, 437, 1299, 10.1038/nature04226 International Human Genome Sequencing Consortium, 2004, Finishing the euchromatic sequence of the human genome, Nature, 431, 931, 10.1038/nature03001 Purcell, 2009, Common polygenic variation contributes to risk of schizophrenia and bipolar disorder, Nature, 460, 748, 10.1038/nature08185 Jain, 2005, Applications of AmpliChip CYP450, Mol. Diagn., 9, 119, 10.2165/00066982-200509030-00002 Javitt, 2007, Glutamate and schizophrenia: phencyclidine, N-methyl-D-aspartate receptors, and dopamine-glutamate interactions, Int. Rev. Neurobiol., 78, 69, 10.1016/S0074-7742(06)78003-5 Javitt, 1991, Recent advances in the phencyclidine model of schizophrenia, Am. J. Psychiatry, 148, 1301, 10.1176/ajp.148.10.1301 Javitt, 2000, Deficits in auditory and visual context-dependent processing in schizophrenia: defining the pattern, Arch. Gen. Psychiatry, 57, 1131, 10.1001/archpsyc.57.12.1131 Kantrowitz, 2010, N-methyl-d-aspartate (NMDA) receptor dysfunction or dysregulation: the final common pathway on the road to schizophrenia?, Brain Res. Bull., 83, 108, 10.1016/j.brainresbull.2010.04.006 Kauwe, 2011, Fine mapping of genetic variants in BIN1, CLU, CR1 and PICALM for association with cerebrospinal fluid biomarkers for Alzheimer's disease, PLoS One, 6, e15918, 10.1371/journal.pone.0015918 Kendler, 2010, Endophenotype: a conceptual analysis, Mol. Psychiatry, 15, 789, 10.1038/mp.2010.8 Kirchheiner, 2004, Pharmacogenetics of antidepressants and antipsychotics: the contribution of allelic variations to the phenotype of drug response, Mol. Psychiatry, 9, 442, 10.1038/sj.mp.4001494 Kirchheiner, 2010, Pharmacogenetics in psychiatry—a useful clinical tool or wishful thinking for the future?, Curr. Pharm. Des., 16, 136, 10.2174/138161210790112728 Klein, 2011, Causal thinking for objective psychiatric diagnostic criteria—a programmatic approach in therapeutic context Krystal, 1994, Subanesthetic effects of the noncompetitive NMDA antagonist, ketamine, in humans. Psychotomimetic, perceptual, cognitive, and neuroendocrine responses, Arch. Gen. Psychiatry, 51, 199, 10.1001/archpsyc.1994.03950030035004 Lemonde, 2003, Impaired repression at a 5-hydroxytryptamine 1A receptor gene polymorphism associated with major depression and suicide, J. Neurosci., 23, 8788, 10.1523/JNEUROSCI.23-25-08788.2003 Li, 2007, G72/G30 genes and schizophrenia: a systematic meta-analysis of association studies, Genetics, 175, 917, 10.1534/genetics.106.061796 Licinio, 2011, Translational Psychiatry: leading the transition from the cesspool of devastation to a place where the grass is really greener, Transl. Psychiatry, 1, 10.1038/tp.2011.3 Llerena, 1993, Relationship between personality and debrisoquine hydroxylation capacity. Suggestion of an endogenous neuroactive substrate or product of the cytochrome P4502D6, Acta Psychiatr. Scand., 87, 23, 10.1111/j.1600-0447.1993.tb03325.x Losifescu, 2009, Frontal EEG predictors of treatment outcome in major depressive disorder, Eur. Neuropsychopharmacol., 19, 772, 10.1016/j.euroneuro.2009.06.001 Ma, 2009, A genome-wide association study of autism reveals a common novel risk locus at 5p14.1, Ann. Hum. Genet., 73, 263, 10.1111/j.1469-1809.2009.00523.x Malenka, 2011, Alzheimer's disease: recollection of lost memories, Nature, 469, 44, 10.1038/469044a McGrath, 2008, Response to a selective serotonin reuptake inhibitor (citalopram) in major depressive disorder with melancholic features: a STAR*D report, J. Clin. Psychiatry, 69, 1847, 10.4088/JCP.v69n1201 McNally, 2008, Inflammation, glutamate, and glia in depression: a literature review, CNS Spectr., 13, 501, 10.1017/S1092852900016734 Meyer-Lindenberg, 2006, Intermediate phenotypes and genetic mechanisms of psychiatric disorders, Nat. Rev. Neurosci., 7, 818, 10.1038/nrn1993 Morrow, 2007, National academy of clinical biochemistry laboratory medicine practice guidelines: clinical characteristics and utilization of biochemical markers in acute coronary syndromes, Clin. Chem., 53, 552, 10.1373/clinchem.2006.084194 Naatanen, 2011, Auditory processing that leads to conscious perception: a unique window to central auditory processing opened by the mismatch negativity and related responses, Psychophysiology, 48, 4, 10.1111/j.1469-8986.2010.01114.x Nelson, 2010, Anxiety does not predict response to duloxetine in major depression: results of a pooled analysis of individual patient data from 11 placebo-controlled trials, Depress. Anxiety, 27, 12, 10.1002/da.20632 Nestler, 2010, Animal models of neuropsychiatric disorders, Nat. Neurosci., 13, 1161, 10.1038/nn.2647 Ng, 2009, An agenda for personalized medicine, Nature, 461, 724, 10.1038/461724a Norton, 2006, An update on the genetics of schizophrenia, Curr. Opin. Psychiatry, 19, 158, 10.1097/01.yco.0000214341.52249.59 O'Donovan, 2008, Identification of loci associated with schizophrenia by genome-wide association and follow-up, Nat. Genet., 40, 1053, 10.1038/ng.201 Oliver, 2009, Interaction between environmental and genetic factors modulates schizophrenic endophenotypes in the Snap-25 mouse mutant blind-drunk, Hum. Mol. Genet., 18, 4576, 10.1093/hmg/ddp425 Orr, 2007, The experience with voluntary genomic data submissions at the FDA and a vision for the future of the voluntary data submission program, Clin. Pharmacol. Ther., 81, 294, 10.1038/sj.clpt.6100053 Paisan-Ruiz, 2004, Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease, Neuron, 44, 595, 10.1016/j.neuron.2004.10.023 Parker, 1999, Subtyping depression: testing algorithms and identification of a tiered model, J. Nerv. Ment. Dis., 187, 610, 10.1097/00005053-199910000-00004 Perry, 1996, Pharmacotherapy for major depression with melancholic features: relative efficacy of tricyclic versus selective serotonin reuptake inhibitor antidepressants, J. Affect. Disord., 39, 1, 10.1016/0165-0327(96)00014-6 Price, 2006, Principal components analysis corrects for stratification in genome-wide association studies, Nat. Genet., 38, 904, 10.1038/ng1847 Report of the National Advisory Mental Health Councils Workgroup, 2010 Richardson-Jones, 2010, 5-HT1A autoreceptor levels determine vulnerability to stress and response to antidepressants, Neuron, 65, 40, 10.1016/j.neuron.2009.12.003 Riley, 2010, Replication of association between schizophrenia and ZNF804A in the Irish Case-Control Study of Schizophrenia sample, Mol. Psychiatry, 15, 29, 10.1038/mp.2009.109 Rogaev, 1995, Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene, Nature, 376, 775, 10.1038/376775a0 Roses, 2002, Genome-based pharmacogenetics and the pharmaceutical industry, Nat. Rev. Drug Discov., 1, 541, 10.1038/nrd840 Ross, 2009, The HER-2 receptor and breast cancer: ten years of targeted anti-HER-2 therapy and personalized medicine, Oncologist, 14, 320, 10.1634/theoncologist.2008-0230 Rush, 2004, Sequenced treatment alternatives to relieve depression (STAR*D): rationale and design, Control. Clin. Trials, 25, 119, 10.1016/S0197-2456(03)00112-0 Russell, 2001, Effect of concurrent anxiety on response to sertraline and imipramine in patients with chronic depression, Depress. Anxiety, 13, 18, 10.1002/1520-6394(2001)13:1<18::AID-DA3>3.0.CO;2-M Samuels, 2011, Modelling treatment resistant depression, Neuropharmacology, 61, 408, 10.1016/j.neuropharm.2011.02.017 Schwarz, 2011, Identification of a biological signature for schizophrenia in serum, Mol. Psychiatry Sherrington, 1995, Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease, Nature, 375, 754, 10.1038/375754a0 Shi, 2006, The MicroArray Quality Control (MAQC) project shows inter- and intraplatform reproducibility of gene expression measurements, Nat. Biotechnol., 24, 1151, 10.1038/nbt1239 Tan, 2008, Intermediate phenotypes in schizophrenia genetics redux: is it a no brainer?, Mol. Psychiatry, 13, 233, 10.1038/sj.mp.4002145 Thase, 2008, Maintenance therapy for bipolar disorder, J. Clin. Psychiatry, 69, e32, 10.4088/JCP.1108e32 Uher, 2009, The role of genetic variation in the causation of mental illness: an evolution-informed framework, Mol. Psychiatry, 14, 1072, 10.1038/mp.2009.85 Uhr, 2008, Polymorphisms in the drug transporter gene ABCB1 predict antidepressant treatment response in depression, Neuron, 57, 203, 10.1016/j.neuron.2007.11.017 Umbricht, 2005, Mismatch negativity in schizophrenia: a meta-analysis, Schizophr. Res., 76, 1, 10.1016/j.schres.2004.12.002 Umbricht, 2000, Ketamine-induced deficits in auditory and visual context-dependent processing in healthy volunteers: implications for models of cognitive deficits in schizophrenia, Arch. Gen. Psychiatry, 57, 1139, 10.1001/archpsyc.57.12.1139 Wain, 2011, Copy number variation, Methods Mol. Biol., 713, 167, 10.1007/978-1-60327-416-6_13 Wang, 2009, Common genetic variants on 5p14.1 associate with autism spectrum disorders, Nature, 459, 528, 10.1038/nature07999 Warden, 2007, The STAR*D Project results: a comprehensive review of findings, Curr. Psychiatry Rep., 9, 449, 10.1007/s11920-007-0061-3 Williams, 2008, PhRMA white paper on ADME pharmacogenomics, J. Clin. Pharmacol., 48, 849, 10.1177/0091270008319329 Wong, 2008, Multi- and single-target agents for major psychiatric diseases: therapeutic opportunities and challenges, Curr. Opin. Investig. Drugs, 9, 28 Wong, 2010, The effectiveness of multi-target agents in schizophrenia and mood disorders: relevance of receptor signature to clinical action, Pharmacol. Ther., 126, 173, 10.1016/j.pharmthera.2010.02.001 Wong, 2010, Challenges and opportunities for drug discovery in psychiatric disorders: the drug hunters' perspective, Int. J. Neuropsychopharmacol., 13, 1269, 10.1017/S1461145710000866 Woodcock, 2009, Chutes and Ladders on the Critical Path: Comparative Effectiveness, Product Value, and the Use of Biomarkers in Drug Development, Clin. Pharm. & Ther., 86, 12, 10.1038/clpt.2009.33 Zimprich, 2004, Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology, Neuron, 44, 601, 10.1016/j.neuron.2004.11.005