442
Views
8
CrossRef citations to date
0
Altmetric
Review

DRD4 and DAT1 in ADHD: Functional neurobiology to pharmacogenetics

, &
Pages 61-78 | Published online: 21 May 2010

References

  • PolanczykGde LimaMSHortaBLBiedermanJRohdeLAThe worldwide prevalence of ADHD: A systematic review and metaregression analysisAm J Psychiatry2007164694294817541055
  • Lasky-SuJAnneyRJNealeBMGenome-wide association scan of the time to onset of attention deficit hyperactivity disorderAm J Med Genet B Neuropsychiatr Genet2008147B81355135818937294
  • ReiffMISteinMTAttention-deficit/hyperactivity disorder evaluation and diagnosis: A practical approach in office practicePediatr Clin North Am20035051019104814558680
  • MannuzzaSKleinRGKonigPHGiampinoTLHyperactive boys almost grown up. IV. Criminality and its relationship to psychiatric statusArch Gen Psychiatry19894612107310792589922
  • SatterfieldJHFallerKJCrinellaFMSchellAMSwansonJMHomerLDA 30-year prospective follow-up study of hyperactive boys with conduct problems: Adult criminalityJ Am Acad Child Adolesc Psychiatry200746560161017450051
  • BarkleyRAFischerMSmallishLFletcherKYoung adult follow-up of hyperactive children: Antisocial activities and drug useJ Child Psychol Psychiatry200445219521114982236
  • SwansonJMKinsbourneMNiggJEtiologic subtypes of attention-deficit/hyperactivity disorder: Brain imaging, molecular genetic and environmental factors and the dopamine hypothesisNeuropsychol Rev2007171395917318414
  • Sonuga-BarkeEJElgieSHallMMore to ADHD than meets the eye: Observable abnormalities in search behaviour do not account for performance deficits on a discrimination taskBehav Brain Funct2005111016033644
  • ArnstenAFLiBMNeurobiology of executive functions: Catecholamine influences on prefrontal cortical functionsBiol Psychiatry200557111377138415950011
  • PliszkaSRMcCrackenJTMaasJWCatecholamines in attention-deficit hyperactivity disorder: Current perspectivesJ Am Acad Child Adolesc Psychiatry19963532642728714313
  • SchultzWGetting formal with dopamine and rewardNeuron200236224126312383780
  • SchultzWMultiple dopamine functions at different time coursesAnnu Rev Neurosci20073025928817600522
  • SeemanPMadrasBKAnti-hyperactivity medication: Methylphenidate and amphetamineMol Psychiatry1998353863969774771
  • LeesAJHardyJReveszTParkinson’s diseaseLancet200937396802055206619524782
  • AultmanJMMoghaddamBDistinct contributions of glutamate and dopamine receptors to temporal aspects of rodent working memory using a clinically relevant taskPsychopharmacology (Berl)2001153335336411271408
  • FlorescoSBPhillipsAGDelay-dependent modulation of memory retrieval by infusion of a dopamine D1 agonist into the rat medial prefrontal cortexBehav Neurosci2001115493493911508732
  • VolkowNDWangGJKollinsSHEvaluating dopamine reward pathway in ADHD: Clinical implicationsJAMA2009302101084109119738093
  • HranilovicDBucanMWangYEmotional response in dopamine D2L receptor-deficient miceBehav Brain Res2008195224625018835570
  • PezzeMAFeldonJMesolimbic dopaminergic pathways in fear conditioningProg Neurobiol200474530132015582224
  • WenderPHA possible monoaminergic basis for minimal brain dysfunctionPsychopharmacol Bull197511336371153658
  • GiulianoFAllardJDopamine and sexual functionInt J Impot Res200113Suppl 3S18S2811477488
  • HymanSEMalenkaRCNestlerEJNeural mechanisms of addiction: The role of reward-related learning and memoryAnnu Rev Neurosci20062956559816776597
  • PecinaSBerridgeKCHedonic hot spot in nucleus accumbens shell: Where do mu-opioids cause increased hedonic impact of sweetness?J Neurosci20052550117771178616354936
  • BarbeauAHigh-level levodopa therapy in Parkinson’s disease: Five years laterTrans Am Neurol Assoc1974991601634463526
  • MogensonGJJonesDLYimCYFrom motivation to action: Functional interface between the limbic system and the motor systemProg Neurobiol1980142–369976999537
  • WiseRADopamine, learning and motivationNat Rev Neurosci20045648349415152198
  • WiseRADopamine and food reward: Back to the elementsAm J Physiol Regul Integr Comp Physiol20042861R1314660469
  • Ben-JonathanNHnaskoRDopamine as a prolactin (PRL) inhibitorEndocr Rev200122672476311739329
  • AlexanderGECrutcherMDFunctional architecture of basal ganglia circuits: Neural substrates of parallel processingTrends Neurosci19901372662711695401
  • Bar-GadIBergmanHStepping out of the box: Information processing in the neural networks of the basal gangliaCurr Opin Neurobiol200111668969511741019
  • HaberSNThe primate basal ganglia: Parallel and integrative networksJ Chem Neuroanat200326431733014729134
  • MiddletonFAStrickPLBasal-ganglia ‘projections’ to the prefrontal cortex of the primateCereb Cortex200212992693512183392
  • TakadaMTokunoHNambuAInaseMCorticostriatal projections from the somatic motor areas of the frontal cortex in the macaque monkey: Segregation versus overlap of input zones from the primary motor cortex, the supplementary motor area, and the premotor cortexExp Brain Res199812011141289628410
  • Sonuga-BarkeEJDalenLDaleyDRemingtonBAre planning, working memory, and inhibition associated with individual differences in preschool ADHD symptoms?Dev Neuropsychol200221325527212233938
  • KolomietsBPDeniauJMMaillyPMenetreyAGlowinskiJThierryAMSegregation and convergence of information flow through the cortico-subthalamic pathwaysJ Neurosci200121155764577211466448
  • McFarlandNRHaberSNThalamic relay nuclei of the basal ganglia form both reciprocal and nonreciprocal cortical connections, linking multiple frontal cortical areasJ Neurosci200222188117813212223566
  • HaberSNCalzavaraRThe cortico-basal ganglia integrative network: The role of the thalamusBrain Res Bull2009782–3697418950692
  • CallierSSnapyanMLe CromSProuDVincentJDVernierPEvolution and cell biology of dopamine receptors in vertebratesBiol Cell200395748950214597267
  • AltarCABoyarWCOeiEWoodPLDopamine autoreceptors modulate the in vivo release of dopamine in the frontal, cingulate and entorhinal corticesJ Pharmacol Exp Ther198724211151203612520
  • MarinelliMRudickCNHuXTWhiteFJExcitability of dopamine neurons: modulation and physiological consequencesCNS Neurol Disord Drug Targets200651799716613555
  • HuotariMSanthaMLucasLRKarayiorgouMGogosJAMannistoPTEffect of dopamine uptake inhibition on brain catecholamine levels and locomotion in catechol-O-methyltransferase-disrupted miceJ Pharmacol Exp Ther200230331309131612438556
  • ZametkinAJLiottaWThe neurobiology of attention-deficit/hyperactivity disorderJ Clin Psychiatry199859Suppl 717239680049
  • GizerIRFicksCWaldmanIDCandidate gene studies of ADHD: A meta-analytic reviewHum Genet20091261519019506906
  • VolkowNDWangGJFowlerJSDingYSImaging the effects of methylphenidate on brain dopamine: New model on its therapeutic actions for attention-deficit/hyperactivity disorderBiol Psychiatry200557111410141515950015
  • VolkowNDWangGJFowlerJSEvidence that methylphenidate enhances the saliency of a mathematical task by increasing dopamine in the human brainAm J Psychiatry200416171173118015229048
  • PatrickKSCaldwellRWFerrisRMBreeseGRPharmacology of the enantiomers of threo-methylphenidateJ Pharmacol Exp Ther198724111521583572779
  • SeemanPMadrasBMethylphenidate elevates resting dopamine which lowers the impulse-triggered release of dopamine: A hypothesisBehav Brain Res20021301–2798311864721
  • FanXXuMHessEJD2 dopamine receptor subtype-mediated hyperactivity and amphetamine responses in a model of ADHDNeurobiol Dis20103722823619840852
  • KuczenskiRSegalDSDifferential effects of D- and L-amphetamine and methylphenidate on rat striatal dopamine biosynthesisEur J Pharmacol19753022442511126362
  • KuczenskiRSegalDSEffects of methylphenidate on extracellular dopamine, serotonin, and norepinephrine: comparison with amphetamineJ Neurochem1997685203220379109529
  • AcciliDFishburnCSDragoJA targeted mutation of the D3 dopamine receptor gene is associated with hyperactivity in miceProc Natl Acad Sci U S A1996935194519498700864
  • GirosBJaberMJonesSRWightmanRMCaronMGHyperlocomotion and indifference to cocaine and amphetamine in mice lacking the dopamine transporterNature199637965666066128628395
  • GranonSPassettiFThomasKLDalleyJWEverittBJRobbinsTWEnhanced and impaired attentional performance after infusion of D1 dopaminergic receptor agents into rat prefrontal cortexJ Neurosci20002031208121510648725
  • LeoDSorrentinoEVolpicelliFAltered midbrain dopaminergic neurotransmission during development in an animal model of ADHDNeurosci Biobehav Rev200327766166914624810
  • XuMMoratallaRGoldLHDopamine D1 receptor mutant mice are deficient in striatal expression of dynorphin and in dopamine-mediated behavioral responsesCell19947947297427954836
  • ShaywitzBAYagerRDKlopperJHSelective brain dopamine depletion in developing rats: An experimental model of minimal brain dysfunctionScience19761914224305308942800
  • MookDMJeffreyJNeuringerASpontaneously hypertensive rats (SHR) readily learn to vary but not repeat instrumental responsesBehav Neural Biol19935921261358476380
  • SagvoldenTBehavioral validation of the spontaneously hypertensive rat (SHR) as an animal model of attention-deficit/hyperactivity disorder (AD/HD)Neurosci Biobehav Rev2000241313910654658
  • WongAHBuckleCEVan TolHHPolymorphisms in dopamine receptors: What do they tell us?Eur J Pharmacol20004102–318320311134669
  • WyssJMFiskGvan GroenTImpaired learning and memory in mature spontaneously hypertensive ratsBrain Res19925921–21351401450905
  • BoixFQiaoSWKolpusTSagvoldenTChronic L-deprenyl treatment alters brain monoamine levels and reduces impulsiveness in an animal model of attention-deficit/hyperactivity disorderBehav Brain Res19989411531629708846
  • MyersMMMustyREHendleyEDAttenuation of hyperactivity in the spontaneously hypertensive rat by amphetamineBehav Neural Biol198234142547073635
  • Gonzalez-LimaFSadileAGNetwork operations revealed by brain metabolic mapping in a genetic model of hyperactivity and attention deficit: The Naples high- and low-excitability ratsNeurosci Biobehav Rev200024115716010654673
  • PapaMSellittiSSadileAGRemodeling of neural networks in the anterior forebrain of an animal model of hyperactivity and attention deficits as monitored by molecular imaging probesNeurosci Biobehav Rev200024114915610654672
  • SadileAGLambertiCSiegfriedBWelzlHCircadian activity, nociceptive thresholds, nigrostriatal and mesolimbic dopaminergic activity in the Naples high- and low-excitability rat linesBehav Brain Res199355117278101085
  • SadileAGPellicanoMPSagvoldenTSergeantJANMDA and non-NMDA sensitive [L-3H] glutamate receptor binding in the brain of the Naples high- and low-excitability rats: An autoradiographic studyBehav Brain Res19967821631748864048
  • HessEJCollinsKAWilsonMCMouse model of hyperkinesis implicates SNAP-25 in behavioral regulationJ Neurosci1996169310431118622140
  • SteffensenSCHenriksenSJWilsonMCTransgenic rescue of SNAP-25 restores dopamine-modulated synaptic transmission in the coloboma mutantBrain Res1999847218619510575087
  • GononFThe dopaminergic hypothesis of attention-deficit/hyperactivity disorder needs re-examiningTrends Neurosci20093212818986716
  • CheonKARyuYHKimYKNamkoongKKimCHLeeJDDopamine transporter density in the basal ganglia assessed with [123I]IPT SPET in children with attention deficit hyperactivity disorderEur J Nucl Med Mol Imaging200330230631112552351
  • DoughertyDDBonabAASpencerTJRauchSLMadrasBKFischmanAJDopamine transporter density in patients with attention deficit hyperactivity disorderLancet199935491962132213310609822
  • KrauseKHDreselSHKrauseJKungHFTatschKIncreased striatal dopamine transporter in adult patients with attention deficit hyperactivity disorder: Effects of methylphenidate as measured by single photon emission computed tomographyNeurosci Lett2000285210711010793238
  • LarischRSitteWAntkeCStriatal dopamine transporter density in drug naive patients with attention-deficit/hyperactivity disorderNucl Med Commun200627326727016479247
  • van DyckCHQuinlanDMCretellaLMUnaltered dopamine transporter availability in adult attention deficit hyperactivity disorderAm J Psychiatry2002159230931211823278
  • HesseSBallaschkeOBarthelHSabriODopamine transporter imaging in adult patients with attention-deficit/hyperactivity disorderPsychiatry Res2009171212012819176281
  • MadrasBKMillerGMFischmanAJThe dopamine transporter: Relevance to attention deficit hyperactivity disorder (ADHD)Behav Brain Res20021301–2576311864718
  • BiedermanJFaraoneSVAttention-deficit hyperactivity disorderLancet2005366948123724816023516
  • StevensonJEvidence for a genetic etiology in hyperactivity in childrenBehav Genet19922233373441616463
  • SwansonJMSergeantJATaylorESonuga-BarkeEJJensenPSCantwellDPAttention-deficit hyperactivity disorder and hyperkinetic disorderLancet199835191004294339482319
  • NadderTSSilbergJLEavesLJMaesHHMeyerJMGenetic effects on ADHD symptomatology in 7- to 13-year-old twins: Results from a telephone surveyBehav Genet199828283999583234
  • SaudinoKJRonaldAPlominRThe etiology of behavior problems in 7-year-old twins: Substantial genetic influence and negligible shared environmental influence for parent ratings and ratings by same and different teachersJ Abnorm Child Psychol200533111313015759595
  • LarssonJOLarssonHLichtensteinPGenetic and environmental contributions to stability and change of ADHD symptoms between 8 and 13 years of age: A longitudinal twin studyJ Am Acad Child Adolesc Psychiatry200443101267127515381894
  • ThaparAHarringtonRMcGuffinPExamining the comorbidity of ADHD-related behaviours and conduct problems using a twin study designBr J Psychiatry200117922422911532799
  • PoldermanTJde GeusEJHoekstraRAAttention problems, inhibitory control, and intelligence index overlapping genetic factors: A study in 9-, 12-, and 18-year-old twinsNeuropsychology200923338139119413451
  • PurcellSStatistical methods in behavioral geneticsPlominRDeFriesJMcClearnGMcGuffinPBehavioral GeneticsNew York, NYWorth2001
  • RutterMGene-environment interdependenceDev Sci2007101121817181693
  • SpielmanRSMcGinnisREEwensWJTransmission test for linkage disequilibrium: The insulin gene region and insulin-dependent diabetes mellitus (IDDM)Am J Hum Genet19935235065168447318
  • SpielmanRSEwensWJThe TDT and other family-based tests for linkage disequilibrium and associationAm J Hum Genet19965959839898900224
  • ClaytonDA generalization of the transmission/disequilibrium test for uncertain-haplotype transmissionAm J Hum Genet19996541170117710486336
  • WeinbergCRAllowing for missing parents in genetic studies of case-parent triadsAm J Hum Genet19996441186119310090904
  • MortonNECollinsATests and estimates of allelic association in complex inheritanceProc Natl Acad Sci U S A1998951911389113939736746
  • MitchellAACutlerDJChakravartiAUndetected genotyping errors cause apparent overtransmission of common alleles in the transmission/disequilibrium testAm J Hum Genet200372359861012587097
  • RischNMerikangasKThe future of genetic studies of complex human diseasesScience19962735281151615178801636
  • LanderESSchorkNJGenetic dissection of complex traitsScience19942655181203720488091226
  • ClarkAGLiJConjuring SNPs to detect associationsNat Genet200739781581617597769
  • FisherRThe correlation between relatives on the supposition of Mendelian inheritanceTrans Roy Soc Edin191852399433
  • HirschhornJNLettreGProgress in genome-wide association studies of human heightHorm Res200971Suppl 251319407491
  • GoldsteinDBCommon genetic variation and human traitsN Engl J Med2009360171696169819369660
  • BurnsGLWalshJAOwenSMSnellJInternal validity of attention deficit hyperactivity disorder, oppositional defiant disorder, and overt conduct disorder symptoms in young children: Implications from teacher ratings for a dimensional approach to symptom validityJ Clin Child Psychol19972632662759292384
  • PintoLPTryonWWActivity measurements support dimensional assessmentBehav Modif19962032432588768507
  • HudziakJJAchenbachTMAlthoffRRPineDSA dimensional approach to developmental psychopathologyInt J Methods Psychiatr Res200716Suppl 1S16S2317623391
  • SwansonJMWigalTLakesKDSM-V and the future diagnosis of attention-deficit/hyperactivity disorderCurr Psychiatry Rep200911539940619785982
  • AshersonPAttention-deficit hyperactivity disorder in the post-genomic eraEur Child Adolesc Psychiatry200413Suppl 1I50I7015322957
  • SpenceJPLiangTLiuLFrom QTL to candidate gene: A genetic approach to alcoholism researchCurr Drug Abuse Rev20092212713419630743
  • CornishKMManlyTSavageRAssociation of the dopamine transporter (DAT1) 10/10-repeat genotype with ADHD symptoms and response inhibition in a general population sampleMol Psychiatry200510768669815809660
  • FisherSEFrancksCMcCrackenJTA genomewide scan for loci involved in attention-deficit/hyperactivity disorderAm J Hum Genet20027051183119611923911
  • Arcos-BurgosMCastellanosFXPinedaDAttention-deficit/hyperactivity disorder in a population isolate: Linkage to loci at 4q13.2, 5q33.3, 11q22, and 17p11Am J Hum Genet2004756998101415497111
  • AminNAulchenkoYSDekkerMCSuggestive linkage of ADHD to chromosome 18q22 in a young genetically isolated Dutch populationEur J Hum Genet200917795896619156173
  • ZhouKDempfleAArcos-BurgosMMeta-analysis of genome-wide linkage scans of attention deficit hyperactivity disorderAm J Med Genet B Neuropsychiatr Genet2008147B81392139818988193
  • AshersonPZhouKAnneyRJA high-density SNP linkage scan with 142 combined subtype ADHD sib pairs identifies linkage regions on chromosomes 9 and 16Mol Psychiatry200813551452118180756
  • BakkerSCvan der MeulenEMBuitelaarJKA whole-genome scan in 164 Dutch sib pairs with attention-deficit/hyperactivity disorder: Suggestive evidence for linkage on chromosomes 7p and 15qAm J Hum Genet20037251251126012679898
  • FaraoneSVDoyleAELasky-SuJLinkage analysis of attention deficit hyperactivity disorderAm J Med Genet B Neuropsychiatr Genet2008147B81387139118081027
  • HebebrandJDempfleASaarKA genome-wide scan for attention-deficit/hyperactivity disorder in 155 German sib-pairsMol Psychiatry200611219620516222334
  • OgdieMNMacphieILMinassianSLA genomewide scan for attention-deficit/hyperactivity disorder in an extended sample: Suggestive linkage on 17p11Am J Hum Genet20037251268127912687500
  • RomanosMFreitagCJacobCGenome-wide linkage analysis of ADHD using high-density SNP arrays: Novel loci at 5q13.1 and 14q12Mol Psychiatry200813552253018301393
  • DoyleAEFerreiraMASklarPBMultivariate genome-wide linkage scan of neurocognitive traits and ADHD symptoms: Suggestive linkage to 3q13Am J Med Genet B Neuropsychiatr Genet2008147B81399141118973233
  • NealeBMLasky-SuJAnneyRGenome-wide association scan of attention deficit hyperactivity disorderAm J Med Genet B Neuropsychiatr Genet2008147B81337134418980221
  • CookEHJrSteinMAKrasowskiMDAssociation of attention-deficit disorder and the dopamine transporter geneAm J Hum Genet19955649939987717410
  • PaytonAHolmesJBarrettJHExamining for association between candidate gene polymorphisms in the dopamine pathway and attention-deficit hyperactivity disorder: A family-based studyAm J Med Genet2001105546447011449400
  • HawiZDringMKirleyASerotonergic system and attention deficit hyperactivity disorder (ADHD): A potential susceptibility locus at the 5-HT(1B) receptor gene in 273 nuclear families from a multi-centre sampleMol Psychiatry20027771872512192616
  • TuricDLangleyKWilliamsHA family based study implicates solute carrier family 1-member 3 (SLC1A3) gene in attention-deficit/hyperactivity disorderBiol Psychiatry200557111461146615950021
  • FaraoneSVPerlisRHDoyleAEMolecular genetics of attention-deficit/hyperactivity disorderBiol Psychiatry200557111313132315950004
  • Purper-OuakilDWohlMMourenMCVerpillatPAdesJGorwoodPMeta-analysis of family-based association studies between the dopamine transporter gene and attention deficit hyperactivity disorderPsychiatr Genet2005151535915722958
  • YangBChanRCJingJLiTShamPChenRYA meta-analysis of association studies between the 10-repeat allele of a VNTR polymorphism in the 3’-UTR of dopamine transporter gene and attention deficit hyperactivity disorderAm J Med Genet B Neuropsychiatr Genet2007144B454155017440978
  • JaberMRobinsonSWMissaleCCaronMGDopamine receptors and brain functionNeuropharmacology19963511150315199025098
  • NeveKASeamansJKTrantham-DavidsonHDopamine receptor signalingJ Recept Signal Transduct Res200424316520515521361
  • OakJNOldenhofJVan TolHHThe dopamine D(4) receptor: One decade of researchEur J Pharmacol20004051–330332711033337
  • TaraziFIZhangKBaldessariniRJDopamine D4 receptors: Beyond schizophreniaJ Recept Signal Transduct Res200424313114715521359
  • Van TolHHBunzowJRGuanHCCloning of the gene for a human dopamine D4 receptor with high affinity for the antipsychotic clozapineNature199135063196106141840645
  • ArianoMAWangJNoblettKLLarsonERSibleyDRCellular distribution of the rat D4 dopamine receptor protein in the CNS using anti-receptor antiseraBrain Res19977521–226349106437
  • GanLFalzoneTLZhangKRubinsteinMBaldessariniRJTaraziFIEnhanced expression of dopamine D(1) and glutamate NMDA receptors in dopamine D(4) receptor knockout miceJ Mol Neurosci200422316717814997010
  • MrzljakLBergsonCPappyMHuffRLevensonRGoldman-RakicPSLocalization of dopamine D4 receptors in GABAergic neurons of the primate brainNature199638165792452488622768
  • NoainDAvaleMEWedemeyerCCalvoDPeperMRubinsteinMIdentification of brain neurons expressing the dopamine D4 receptor gene using BAC transgenic miceEur J Neurosci20062492429243817100831
  • Van TolHHWuCMGuanHCMultiple dopamine D4 receptor variants in the human populationNature199235863821491521319557
  • ChangFMKiddJRLivakKJPakstisAJKiddKKThe world-wide distribution of allele frequencies at the human dopamine D4 receptor locusHum Genet1996981911018682515
  • DingYCChiHCGradyDLEvidence of positive selection acting at the human dopamine receptor D4 gene locusProc Natl Acad Sci U S A200299130931411756666
  • LichterJBBarrCLKennedyJLVan TolHHKiddKKLivakKJA hypervariable segment in the human dopamine receptor D4 (DRD4) geneHum Mol Genet1993267677738353495
  • WangEDingYCFlodmanPThe genetic architecture of selection at the human dopamine receptor D4 (DRD4) gene locusAm J Hum Genet200474593194415077199
  • WangETKodamaGBaldiPMoyzisRKGlobal landscape of recent inferred Darwinian selection for Homo sapiensProc Natl Acad Sci U S A2006103113514016371466
  • ChenCBurtonMGreenbergerEDmitrievaJPopulation migration and the variation of dopamine receptor (DRD4) allele frequencies around the globeEvol Hum Behav199920309324
  • HarpendingHCochranGIn our genesProc Natl Acad Sci U S A2002991101211782544
  • AsghariVSanyalSBuchwaldtSPatersonAJovanovicVVan TolHHModulation of intracellular cyclic AMP levels by different human dopamine D4 receptor variantsJ Neurochem1995653115711657643093
  • De La GarzaR2ndMadrasBK[(3)H]PNU-101958, a D(4) dopamine receptor probe, accumulates in prefrontal cortex and hippocampus of non-human primate brainSynapse200037323224410881045
  • PrimusRJThurkaufAXuJII. Localization and characterization of dopamine D4 binding sites in rat and human brain by use of the novel, D4 receptor-selective ligand [3H]NGD 94-1J Pharmacol Exp Ther19972822102010279262371
  • DolanRJEmotion, cognition, and behaviorScience200229855961191119412424363
  • DurstonSde ZeeuwPStaalWGImaging genetics in ADHD: A focus on cognitive controlNeurosci Biobehav Rev200933567468918789356
  • RubinsteinMPhillipsTJBunzowJRMice lacking dopamine D4 receptors are supersensitive to ethanol, cocaine, and methamphetamineCell199790699110019323127
  • AvaleMEFalzoneTLGelmanDMLowMJGrandyDKRubinsteinMThe dopamine D4 receptor is essential for hyperactivity and impaired behavioral inhibition in a mouse model of attention deficit/hyperactivity disorderMol Psychiatry20049771872614699433
  • RubinsteinMCepedaCHurstRSDopamine D4 receptor-deficient mice display cortical hyperexcitabilityJ Neurosci200121113756376311356863
  • SeamanMIFisherJBChangFKiddKKTandem duplication polymorphism upstream of the dopamine D4 receptor gene (DRD4)Am J Med Genet199988670570910581493
  • KereszturiEKiralyOCsapoZAssociation between the 120-bp duplication of the dopamine D4 receptor gene and attention deficit hyperactivity disorder: Genetic and molecular analysesAm J Med Genet B Neuropsychiatr Genet2007144B223123617171658
  • YangJWJangWSHongSDA case-control association study of the polymorphism at the promoter region of the DRD4 gene in Korean boys with attention deficit-hyperactivity disorder: Evidence of association with the -521 C/T SNPProg Neuropsychopharmacol Biol Psychiatry200832124324817850946
  • GradyDLHarxhiASmithMSequence variants of the DRD4 gene in autism: Further evidence that rare DRD4 7R haplotypes are ADHD specificAm J Med Genet B Neuropsychiatr Genet2005136B1333515892149
  • LaHosteGJSwansonJMWigalSBDopamine D4 receptor gene polymorphism is associated with attention deficit hyperactivity disorderMol Psychiatry1996121211249118321
  • FaraoneSVDoyleAEMickEBiedermanJMeta-analysis of the association between the 7-repeat allele of the dopamine D(4) receptor gene and attention deficit hyperactivity disorderAm J Psychiatry200115871052105711431226
  • LiDShamPCOwenMJHeLMeta-analysis shows significant association between dopamine system genes and attention deficit hyperactivity disorder (ADHD)Hum Mol Genet200615142276228416774975
  • MaherBSMarazitaMLFerrellREVanyukovMMDopamine system genes and attention deficit hyperactivity disorder: A meta-analysisPsychiatr Genet200212420721512454525
  • WohlMPurper-OuakilDMourenMCAdesJGorwoodPMeta-analysis of candidate genes in attention-deficit hyperactivity disorderEncephale2005314 Pt 1437447 French16389711
  • CurranSMillJShamPQTL association analysis of the DRD4 exon 3 VNTR polymorphism in a population sample of children screened with a parent rating scale for ADHD symptomsAm J Med Genet2001105438739311378855
  • Lasky-SuJLangeCBiedermanJFamily-based association analysis of a statistically derived quantitative traits for ADHD reveal an association in DRD4 with inattentive symptoms in ADHD individualsAm J Med Genet B Neuropsychiatr Genet2008147B110010617579349
  • MillJXuXRonaldAQuantitative trait locus analysis of candidate gene alleles associated with attention deficit hyperactivity disorder (ADHD) in five genes: DRD4, DAT1, DRD5, SNAP-25, and 5HT1BAm J Med Genet B Neuropsychiatr Genet2005133B1687315578613
  • ToddRDNeumanRJLobosEAJongYJReichWHeathACLack of association of dopamine D4 receptor gene polymorphisms with ADHD subtypes in a population sample of twinsAm J Med Genet2001105543243811449395
  • GottesmanIIGouldTDThe endophenotype concept in psychiatry: Etymology and strategic intentionsAm J Psychiatry20031604636512668349
  • FlintJMunafoMRThe endophenotype concept in psychiatric geneticsPsychol Med200737216318016978446
  • DoyleAEWillcuttEGSeidmanLJAttention-deficit/hyperactivity disorder endophenotypesBiol Psychiatry200557111324133515950005
  • RommelseNNEndophenotypes in the genetic research of ADHD over the last decade: Have they lived up to their expectations?Expert Rev Neurother20088101425142918928337
  • Slaats-WillemseDSwaab-BarneveldHde SonnevilleLvan der MeulenEBuitelaarJDeficient response inhibition as a cognitive endophenotype of ADHDJ Am Acad Child Adolesc Psychiatry200342101242124814560175
  • BidwellLCWillcuttEGDefriesJCPenningtonBFTesting for neuropsychological endophenotypes in siblings discordant for attention-deficit/hyperactivity disorderBiol Psychiatry200762999199817585884
  • BitsakouPPsychogiouLThompsonMSonuga-BarkeEJDelay aversion in attention deficit/hyperactivity disorder: An empirical investigation of the broader phenotypeNeuropsychologia200947244645618929587
  • KebirOTabbaneKSenguptaSJooberRCandidate genes and neuropsychological phenotypes in children with ADHD: Review of association studiesJ Psychiatry Neurosci20093428810119270759
  • SwansonJOosterlaanJMuriasMAttention deficit/hyperactivity disorder children with a 7-repeat allele of the dopamine receptor D4 gene have extreme behavior but normal performance on critical neuropsychological tests of attentionProc Natl Acad Sci U S A20009794754475910781080
  • LangleyKMarshallLvan den BreeMAssociation of the dopamine D4 receptor gene 7-repeat allele with neuropsychological test performance of children with ADHDAm J Psychiatry2004161113313814702261
  • ManorITyanoSEisenbergJBachner-MelmanRKotlerMEbsteinRPThe short DRD4 repeats confer risk to attention deficit hyperactivity disorder in a family-based design and impair performance on a continuous performance test (TOVA)Mol Psychiatry20027779079412192625
  • WaldmanIDStatistical approaches to complex phenotypes: Evaluating neuropsychological endophenotypes for attention-deficit/hyperactivity disorderBiol Psychiatry200557111347135615950007
  • SheeseBEVoelkerPMRothbartMKPosnerMIParenting quality interacts with genetic variation in dopamine receptor D4 to influence temperament in early childhoodDev Psychopathol20071941039104617931433
  • MoffittTECaspiARutterMStrategy for investigating interactions between measured genes and measured environmentsArch Gen Psychiatry200562547348115867100
  • RutterMSilbergJGene-environment interplay in relation to emotional and behavioral disturbanceAnnu Rev Psychol20025346349011752493
  • BrookesKJMillJGuindaliniCA common haplotype of the dopamine transporter gene associated with attention-deficit/hyperactivity disorder and interacting with maternal use of alcohol during pregnancyArch Gen Psychiatry2006631748116389200
  • WeindrichDLauchtMEsserGSchmidtMHMarital discord and early child developmentActa Paedopsychiatr19925541871921283482
  • NeumanRJLobosEReichWHendersonCASunLWToddRDPrenatal smoking exposure and dopaminergic genotypes interact to cause a severe ADHD subtypeBiol Psychiatry200761121320132817157268
  • LangleyKTuricDRiceFTesting for gene x environment interaction effects in attention deficit hyperactivity disorder and associated antisocial behaviorAm J Med Genet B Neuropsychiatr Genet2008147B1495317579368
  • SeegerGSchlossPSchmidtMHRuter-JungfleischAHennFAGene-environment interaction in hyperkinetic conduct disorder (HD = CD) as indicated by season of birth variations in dopamine receptor (DRD4) gene polymorphismNeurosci Lett2004366328228615288435
  • Bakermans-KranenburgMJVanIMHPijlmanFTMesmanJJufferFExperimental evidence for differential susceptibility: Dopamine D4 receptor polymorphism (DRD4 VNTR) moderates intervention effects on toddlers’ externalizing behavior in a randomized controlled trialDev Psychol200844129330018194028
  • AmaraSGKuharMJNeurotransmitter transporters: Recent progressAnnu Rev Neurosci19931673938096377
  • FrazerAGerhardtGADawsLCNew views of biogenic amine transporter function: Implications for neuropsychopharmacologyInt J Neuropsychopharmacol19992430532011285147
  • GainetdinovRRJonesSRFumagalliFWightmanRMCaronMGRe-evaluation of the role of the dopamine transporter in dopamine system homeostasisBrain Res Brain Res Rev1998262–31481539651511
  • CiliaxBJHeilmanCDemchyshynLLThe dopamine transporter: immunochemical characterization and localization in brainJ Neurosci1995153 Pt 1171417237534339
  • FreedCRevayRVaughanRADopamine transporter immunoreactivity in rat brainJ Comp Neurol199535923403497499533
  • VandenberghDJPersicoAMHawkinsALHuman dopamine transporter gene (DAT1) maps to chromosome 5p15.3 and displays a VNTRGenomics1992144110411061478653
  • MitchellRJHowlettSEarlLDistribution of the 3’ VNTR polymorphism in the human dopamine transporter gene in world populationsHum Biol200072229530410803661
  • FukeSSuoSTakahashiNKoikeHSasagawaNIshiuraSThe VNTR polymorphism of the human dopamine transporter (DAT1) gene affects gene expressionPharmacogenomics J20011215215611911442
  • MillJAshersonPBrowesCD’SouzaUCraigIExpression of the dopamine transporter gene is regulated by the 3’ UTR VNTR: Evidence from brain and lymphocytes using quantitative RT-PCRAm J Med Genet2002114897597912457396
  • MillerGMMadrasBKPolymorphisms in the 3’-untranslated region of human and monkey dopamine transporter genes affect reporter gene expressionMol Psychiatry200271445511803445
  • GreenwoodTAKelsoeJRPromoter and intronic variants affect the transcriptional regulation of the human dopamine transporter geneGenomics200382551152014559208
  • HeinzAGoldmanDJonesDWGenotype influences in vivo dopamine transporter availability in human striatumNeuropsychopharmacology200022213313910649826
  • van DyckCHMalisonRTJacobsenLKIncreased dopamine transporter availability associated with the 9-repeat allele of the SLC6A3 geneJ Nucl Med200546574575115872345
  • KimmelHLCarrollFIKuharMJDopamine transporter synthesis and degradation rate in rat striatum and nucleus accumbens using RTI-76Neuropharmacology200039457858510728879
  • XiaYGoebelDJKapatosGBannonMJQuantitation of rat dopamine transporter mRNA: Effects of cocaine treatment and withdrawalJ Neurochem1992593117911821494906
  • ChenCKChenSLMillJThe dopamine transporter gene is associated with attention deficit hyperactivity disorder in a Taiwanese sampleMol Psychiatry20038439339612740596
  • GillMDalyGHeronSHawiZFitzgeraldMConfirmation of association between attention deficit hyperactivity disorder and a dopamine transporter polymorphismMol Psychiatry1997243113139246671
  • RomanTSchmitzMPolanczykGEizirikMRohdeLAHutzMHAttention-deficit hyperactivity disorder: A study of association with both the dopamine transporter gene and the dopamine D4 receptor geneAm J Med Genet2001105547147811449401
  • ToddRDJongYJLobosEAReichWHeathACNeumanRJNo association of the dopamine transporter gene 3’ VNTR polymorphism with ADHD subtypes in a population sample of twinsAm J Med Genet2001105874574811803523
  • CurranSMillJTahirEAssociation study of a dopamine transporter polymorphism and attention deficit hyperactivity disorder in UK and Turkish samplesMol Psychiatry20016442542811443527
  • AshersonPBrookesKFrankeBConfirmation that a specific haplotype of the dopamine transporter gene is associated with combined-type ADHDAm J Psychiatry2007164467467717403983
  • MugliaPJainUInksterBKennedyJLA quantitative trait locus analysis of the dopamine transporter gene in adults with ADHDNeuropsychopharmacology200227465566212377402
  • CornishKMWildingJMHollisCVisual search performance in children rated as good or poor attenders: The differential impact of DAT1 genotype, IQ, and chronological ageNeuropsychology200822221722518331164
  • ToddRDHuangHSmalleySLCollaborative analysis of DRD4 and DAT genotypes in population-defined ADHD subtypesJ Child Psychol Psychiatry200546101067107316178930
  • LooSKSpecterESmolenAHopferCTealePDReiteMLFunctional effects of the DAT1 polymorphism on EEG measures in ADHDJ Am Acad Child Adolesc Psychiatry200342898699312874502
  • Sonuga-BarkeEJSergeantJANiggJWillcuttEExecutive dysfunction and delay aversion in attention deficit hyperactivity disorder: Nosologic and diagnostic implicationsChild Adolesc Psychiatr Clin N Am200817236738418295151
  • RommelseNNAltinkMEArias-VasquezAA review and analysis of the relationship between neuropsychological measures and DAT1 in ADHDAm J Med Genet B Neuropsychiatr Genet2008147B81536154618729135
  • KahnRSKhouryJNicholsWCLanphearBPRole of dopamine transporter genotype and maternal prenatal smoking in childhood hyperactive-impulsive, inattentive, and oppositional behaviorsJ Pediatr2003143110411012915833
  • BeckerKEl-FaddaghMSchmidtMHEsserGLauchtMInteraction of dopamine transporter genotype with prenatal smoke exposure on ADHD symptomsJ Pediatr2008152226326918206700
  • LauchtMSkowronekMHBeckerKInteracting effects of the dopamine transporter gene and psychosocial adversity on attention-defiit/hyperactivity disorder symptoms among 15-year-olds from a high-risk community sampleArch Gen Psychiatry200764558559017485610
  • Sonuga-BarkeEJOadesRDPsychogiouLDopamine and serotonin transporter genotypes moderate sensitivity to maternal expressed emotion: The case of conduct and emotional problems in attention deficit/hyperactivity disorderJ Child Psychol Psychiatry20095091052106319490304
  • StevensSEKumstaRKreppnerJMBrookesKJRutterMSonuga-BarkeEJDopamine transporter gene polymorphism moderates the effects of severe deprivation on ADHD symptoms: Developmental continuities in gene-environment interplayAm J Med Genet B Neuropsychiatr Genet2009150B675376119655343
  • BradleyCThe behavior of children receiving benzedrineAm J Psychiatry193794577585
  • ChavezBSopkoMAJrEhretMJAn update on central nervous system stimulant formulations in children and adolescents with attention-deficit/hyperactivity disorderAnn Pharmacother20094361084109519470858
  • MaloneMASwansonJMEffects of methylphenidate on impulsive responding in children with attention-deficit hyperactivity disorderJ Child Neurol1993821571638505479
  • PatrickKSStraughnABPerkinsJSGonzalezMAEvolution of stimulants to treat ADHD: Transdermal methylphenidateHum Psychopharmacol200924111719051222
  • WilensTEBiedermanJPrinceJSix-week, double-blind, placebo-controlled study of desipramine for adult attention deficit hyperactivity disorderAm J Psychiatry19961539114711538780417
  • SpencerTBiedermanJHeiligensteinJAn open-label, dose-ranging study of atomoxetine in children with attention deficit hyperactivity disorderJ Child Adolesc Psychopharmacol200111325126511642475
  • Sonuga-BarkeEJVan LierPSwansonJMHeterogeneity in the pharmacodynamics of two long-acting methylphenidate formulations for children with attention deficit/hyperactivity disorder. A growth mixture modelling analysisEur Child Adolesc Psychiatry200817424525418071840
  • CoghillDRRhodesSMMatthewsKThe neuropsychological effects of chronic methylphenidate on drug-naive boys with attention-deficit/hyperactivity disorderBiol Psychiatry200762995496217543895
  • CornforthCCoghillDSonuga-BarkeESex and age effects in MPH response in ADHDPsychopharmacology (Berl)2010In press
  • Sonuga-BarkeEJCoghillDMarkowitzJSSwansonJMVandenbergheMHatchSJSex differences in the response of children with ADHD to once-daily formulations of methylphenidateJ Am Acad Child Adolesc Psychiatry200746670171017513982
  • SteinMAMcGoughJJThe pharmacogenomic era: Promise for personalizing attention deficit hyperactivity disorder therapyChild Adolesc Psychiatr Clin N Am200817247549018295157
  • LevyFWhat do dopamine transporter and catechol-o-methyltransferase tell us about attention deficit-hyperactivity disorder? Pharmacogenomic implicationsAust N Z J Psychiatry2007411101617464676
  • WinsbergBGComingsDEAssociation of the dopamine transporter gene (DAT1) with poor methylphenidate responseJ Am Acad Child Adolesc Psychiatry199938121474147710596245
  • RomanTSzobotCMartinsSBiedermanJRohdeLAHutzMHDopamine transporter gene and response to methylphenidate in attention-deficit/hyperactivity disorderPharmacogenetics200212649749912172219
  • CheonKARyuYHKimJWChoDYThe 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 methylphenidateEur Neuropsychopharmacol20051519510115572278
  • KirleyALoweNHawiZAssociation of the 480 bp DAT1 allele with methylphenidate response in a sample of Irish children with ADHDAm J Med Genet B Neuropsychiatr Genet2003121B1505412898575
  • SteinMAWaldmanIDSarampoteCSDopamine transporter genotype and methylphenidate dose response in children with ADHDNeuropsychopharmacology20053071374138215827573
  • JooberRGrizenkoNSenguptaSDopamine transporter 3’-UTR VNTR genotype and ADHD: A pharmaco-behavioural genetic study with methylphenidateNeuropsychopharmacology20073261370137617063150
  • LangleyKTuricDPeirceTRNo support for association between the dopamine transporter (DAT1) gene and ADHDAm J Med Genet B Neuropsychiatr Genet2005139B171016082688
  • McGoughJMcCrackenJSwansonJPharmacogenetics of methylphenidate response in preschoolers with ADHDJ Am Acad Child Adolesc Psychiatry200645111314132217023870
  • TharoorHLobosEAToddRDReiersenAMAssociation of dopamine, serotonin, and nicotinic gene polymorphisms with methylphenidate response in ADHDAm J Med Genet B Neuropsychiatr Genet2008147B452753017948872
  • van der MeulenEMBakkerSCPaulsDLHigh sibling correlation on methylphenidate response but no association with DAT1-10R homozygosity in Dutch sibpairs with ADHDJ Child Psychol Psychiatry200546101074108016178931
  • ZeniCPGuimaraesAPPolanczykGVNo significant association between response to methylphenidate and genes of the dopaminergic and serotonergic systems in a sample of Brazilian children with attention-deficit/hyperactivity disorderAm J Med Genet B Neuropsychiatr Genet2007144B339139417171656
  • HamarmanSFossellaJUlgerCBrimacombeMDermodyJDopamine receptor 4 (DRD4) 7-repeat allele predicts methylphenidate dose response in children with attention deficit hyperactivity disorder: A pharmacogenetic studyJ Child Adolesc Psychopharmacol200414456457415662148
  • CheonKAKimBNChoSCAssociation of 4-repeat allele of the dopamine D4 receptor gene exon III polymorphism and response to methylphenidate treatment in Korean ADHD childrenNeuropsychopharmacology20073261377138317077808
  • FroehlichTEMcGoughJJSteinMAProgress and promise of attention-deficit hyperactivity disorder pharmacogeneticsCNS Drugs20102429911720088618
  • McCarthyMIAbecasisGRCardonLRGenome-wide association studies for complex traits: Consensus, uncertainty and challengesNat Rev Genet20089535636918398418
  • McCarthyMIHirschhornJNGenome-wide association studies: Potential next steps on a genetic journeyHum Mol Genet200817R2R156R16518852205
  • MaherBPersonal genomes: The case of the missing heritabilityNature20084567218182118987709
  • FrankeBNealeBMFaraoneSVGenome-wide association studies in ADHDHum Genet20091261135019384554
  • LeungPWLeeCCHungSFDopamine receptor D4 (DRD4) gene in Han Chinese children with attention-deficit/hyperactivity disorder (ADHD): Increased prevalence of the 2-repeat alleleAm J Med Genet B Neuropsychiatr Genet2005133B1545615578612
  • GabrielaMLJohnDGMagadelaBVGenetic interaction analysis for DRD4 and DAT1 genes in a group of Mexican ADHD patientsNeurosci Lett2009451325726019146920
  • GordonDHaynesCJohnnidisCPatelSBBowcockAMOttJA transmission disequilibrium test for general pedigrees that is robust to the presence of random genotyping errors and any number of untyped parentsEur J Hum Genet200412975276115162128
  • CurtisDShamPCA note on the application of the transmission disequilibrium test when a parent is missingAm J Hum Genet19955638118127887437
  • SwansonJMMoyzisRKMcGoughJJEffects of source of DNA on genotyping success rates and allele percentages in the Preschoolers with Attention-Deficit/Hyperactivity Disorder Treatment Study (PATS)J Child Adolesc Psychopharmacol200717563564617979583
  • WestALangleyKHamshereMLEvidence to suggest biased phenotypes in children with attention deficit hyperactivity disorder from completely ascertained triosMol Psychiatry20027996296612399949
  • PearsonTAManolioTAHow to interpret a genome-wide association studyJAMA2008299111335134418349094
  • WeedonMNLangoHLindgrenCMGenome-wide association analysis identifies 20 loci that influence adult heightNat Genet200840557558318391952
  • VisscherPMSizing up human height variationNat Genet200840548949018443579
  • PritchardJKCoxNJThe allelic architecture of human disease genes: common disease-common variant...or not?Hum Mol Genet200211202417242312351577
  • SchorkNJMurraySSFrazerKATopolEJCommon vs rare allele hypotheses for complex diseasesCurr Opin Genet Dev200919321221919481926
  • RobinsonRCommon disease, multiple rare (and distant) variantsPLoS Biol201081e100029320126253
  • DicksonSPWangKKrantzIHakonarsonHGoldsteinDBRare variants create synthetic genome-wide associationsPLoS Biol201081e100029420126254
  • DeFriesJCFulkerDWMultiple regression analysis of twin dataBehav Genet19851554674734074272
  • SwansonJDeutschCCantwellDGenes and attention-deficit hyperactivity disorderClin Neurosci Res20011217216
  • ZametkinADopamine reward pathway in adult ADHD (Letter to editor)JAMA2010303323223420085952
  • HayDABennettKSLevyFSergeantJSwansonJA twin study of attention-deficit/hyperactivity disorder dimensions rated by the strengths and weaknesses of ADHD-symptoms and normal-behavior (SWAN) scaleBiol Psychiatry200761570070516962074
  • YoungDJLevyFMartinNCHayDAAttention deficit hyperactivity disorder: A Rasch analysis of the SWAN Rating ScaleChild Psychiatry Hum Dev200940454355919455417
  • AulchenkoYSStruchalinMVBelonogovaNMPredicting human height by Victorian and genomic methodsEur J Hum Genet20091781070107519223933
  • GaudermanWJSample size requirements for matched case-control studies of gene-environment interactionStat Med2002211355011782049
  • GluckmanPDHansonMACooperCThornburgKLEffect of in utero and early-life conditions on adult health and diseaseN Engl J Med20083591617318596274
  • LouHCEtiology and pathogenesis of attention-deficit hyperactivity disorder (ADHD): Significance of prematurity and perinatal hypoxic-haemodynamic encephalopathyActa Paediatr19968511126612718955450
  • Rosa NetoPLouHCummingPPrydsOGjeddeAMethylphenidate-evoked potentiation of extracellular dopamine in the brain of adolescents with premature birth: Correlation with attentional deficitAnn N Y Acad Sci200296543443912105118