C957T polymorphism of the human dopamine D2 receptor gene predicts extrastriatal dopamine receptor availability in vivo

Progress in Neuro-Psychopharmacology and Biological Psychiatry

Volumn 33, Issue 4, 2009, Pages 630-636

  Hirvonen, Mika M ^a,b   Lumme, Ville ^a,b   Hirvonen, Jussi ^b   Pesonen, Ullamari ^a   Någren, Kjell ^b   Vahlberg, Tero ^a   Scheinin, Harry ^b   Hietala, Jarmo ^a,b  

^a UNIVERSITY OF TURKU   (Finland)

^b TURKU UNIVERSITY HOSPITAL   (Finland)

Author keywords

Binding potential; Brain imaging; Cortical; DRD2; Positron emission tomography; Variation

Indexed keywords

CARBON 11; DOPAMINE 2 RECEPTOR; GENOMIC DNA; ISOREMOXIPRIDE; MESSENGER RNA; RADIOLIGAND;

ADULT; ARTICLE; BINDING AFFINITY; BRAIN CORTEX; DOPAMINE 2 RECEPTOR GENE; GENE; GENE EXPRESSION REGULATION; GENE INSERTION; GENE MUTATION; GENOTYPE; HUMAN; HUMAN EXPERIMENT; MALE; NORMAL HUMAN; POSITRON EMISSION TOMOGRAPHY; PROTEIN EXPRESSION; PROTEIN FUNCTION; RECEPTOR BINDING; RECEPTOR DENSITY; SINGLE NUCLEOTIDE POLYMORPHISM; THALAMUS;

ADOLESCENT; ADULT; ANALYSIS OF VARIANCE; BRAIN; CARBON ISOTOPES; GENE EXPRESSION REGULATION; GENOTYPE; HUMANS; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; POSITRON-EMISSION TOMOGRAPHY; PROTEIN BINDING; PYRROLIDINES; RECEPTORS, DOPAMINE D2; SALICYLAMIDES; YOUNG ADULT;

EID: 67349181298     PISSN: 02785846     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.pnpbp.2009.02.021     Document Type: Article

References (86)

1. Aalto S, Hirvonen J, Kaasinen V, Hagelberg N, Kajander J, Någren K, et al.The effects of d-amphetamine on extrastriatal dopamine D2/D3 receptors - a randomized, double-blind, placebo-controlled PET study with [11C]FLB 457 in healthy subjects. Eur J Nucl Med 2008; in press.
2. Abecasis G.R., and Cookson W.O. GOLD-graphical overview of linkage disequilibrium. Bioinformatics 16 (2000) 182-183
3. Arinami T., Gao M., Hamaguchi H., and Toru M. A functional polymorphism in the promoter region of the dopamine D2 receptor gene is associated with schizophrenia. Hum Mol Genet 6 (1997) 577-582
4. Bannon M.J., Bunney E.B., and Roth R.H. Mesocortical dopamine neurons: rapid transmitter turnover compared to other brain catecholamine systems. Brain Res 218 (1981) 376-382
5. Bannon M.J., Michaud R.L., and Roth R.H. Mesocortical dopamine neurons. Lack of autoreceptors modulating dopamine synthesis. Mol Pharmacol 19 (1981) 270-275
6. Blum K., Noble E.P., Sheridan P.J., Montgomery A., Ritchie T., Jagadeeswaran P., et al. Allelic association of human dopamine D2 receptor gene in alcoholism. JAMA 263 (1990) 2055-2060
7. Bontempi S., Fiorentini C., Busi C., Guerra N., Spano P., and Missale C. Identification and characterization of two nuclear factor-kappaB sites in the regulatory region of the dopamine D2 receptor. Endocrinology 148 (2007) 2563-2570
8. Bruck A., Aalto S., Nurmi E., Bergman J., and Rinne J.O. Cortical 6-[18F]fluoro-l-dopa uptake and frontal cognitive functions in early Parkinson's disease. Neurobiol Aging 26 (2005) 891-898
9. Cao X., Yeo G., Muotri A.R., Kuwabara T., and Gage F.H. Noncoding RNAs in the mammalian central nervous system. Annu Rev Neurosci 29 (2006) 77-103
10. Carboni E., Tanda G.L., Frau R., and Di Chiara G. Blockade of the noradrenaline carrier increases extracellular dopamine concentrations in the prefrontal cortex: evidence that dopamine is taken up in vivo by noradrenergic terminals. J Neurochem 55 (1990) 1067-1070
11. Cass W.A., and Gerhardt G.A. In vivo assessment of dopamine uptake in rat medial prefrontal cortex: comparison with dorsal striatum and nucleus accumbens. J Neurochem 65 (1995) 201-207
12. Chernak J.M., Hoffman P.W., Minowa T., Mouradian M.M., and Roth G.S. Interaction of nuclear factors from young and old rat brain regions with regulatory sequences of the D2 dopamine receptor gene promoter. Brain Res Mol Brain Res 44 (1997) 113-124
13. Chiodo L.A., Bannon M.J., Grace A.A., Roth R.H., and Bunney B.S. Evidence for the absence of impulse-regulating somatodendritic and synthesis-modulating nerve terminal autoreceptors on subpopulations of mesocortical dopamine neurons. Neuroscience 12 (1984) 1-16
14. Chou Y.H., Halldin C., and Farde L. Effect of amphetamine on extrastriatal D2 dopamine receptor binding in the primate brain: a PET study. Synapse 38 (2000) 138-143
15. Ciliax B.J., Heilman C., Demchyshyn L.L., Pristupa Z.B., Ince E., Hersch S.M., et al. The dopamine transporter: immunochemical characterization and localization in brain. J Neurosci 15 (1995) 1714-1723
16. Comings D.E., Muhleman D., Ahn C., Gysin R., and Flanagan S.D. The dopamine D2 receptor gene: a genetic risk factor in substance abuse. Drug Alcohol Depend 34 (1994) 175-180
17. Creese I., Sibley D.R., and Xu S.X. Expression of rat striatal D1 and D2 dopamine receptor mRNAs: ontogenetic and pharmacological studies. Neurochem Int 20 (1992) 45S-48S Suppl
18. Cubeddu L.X., Hoffmann I.S., and Talmaciu R.K. Is the release of dopamine from medial prefrontal cortex modulated by presynaptic receptors? Comparison with nigrostriatal and mesolimbic terminals. Ann N Y Acad Sci 604 (1990) 452-461
19. Davis C., Levitan R.D., Kaplan A.S., Carter J., Reid C., Curtis C., et al. Reward sensitivity and the D2 dopamine receptor gene: a case-control study of binge eating disorder. Prog Neuropsychopharmacol Biol Psychiatry 32 (2008) 620-628
20. Duan J., Wainwright M.S., Comeron J.M., Saitou N., Sanders A.R., Gelernter J., et al. Synonymous mutations in the human dopamine receptor D2 (DRD2) affect mRNA stability and synthesis of the receptor. Hum Mol Genet 12 (2003) 205-216
21. Dubertret C., Gouya L., Hanoun N., Deybach J.C., Ades J., Hamon M., et al. The 3′ region of the DRD2 gene is involved in genetic susceptibility to schizophrenia. Schizophr Res 67 (2004) 75-85
22. Farde L., Hall H., Pauli S., and Halldin C. Variability in D2-dopamine receptor density and affinity: a PET study with [11C]raclopride in man. Synapse 20 (1995) 200-208
23. Farde L., Suhara T., Nyberg S., Karlsson P., Nakashima Y., Hietala J., et al. A PET-study of [11C]FLB 457 binding to extrastriatal D2-dopamine receptors in healthy subjects and antipsychotic drug-treated patients. Psychopharmacology (Berl) 133 (1997) 396-404
24. Fox C.A., Mansour A., and Watson Jr. S.J. The effects of haloperidol on dopamine receptor gene expression. Exp Neurol 130 (1994) 288-303
25. Frank M.J., Moustafa A.A., Haughey H.M., Curran T., and Hutchison K.E. Genetic triple dissociation reveals multiple roles for dopamine in reinforcement learning. Proc Natl Acad Sci U S A 104 (2007) 16311-16316
26. Garris P.A., and Wightman R.M. Different kinetics govern dopaminergic transmission in the amygdala, prefrontal cortex, and striatum: an in vivo voltammetric study. J Neurosci 14 (1994) 442-450
27. Gelernter J., Goldman D., and Risch N. The A1 allele at the D2 dopamine receptor gene and alcoholism. A reappraisal. JAMA 269 (1993) 1673-1677
28. Gelernter J., Yu Y., Weiss R., Brady K., Panhuysen C., Yang B.Z., et al. Haplotype spanning TTC12 and ANKK1, flanked by the DRD2 and NCAM1 loci, is strongly associated to nicotine dependence in two distinct American populations. Hum Mol Genet 15 (2006) 3498-3507
29. Gogos J.A., Morgan M., Luine V., Santha M., Ogawa S., Pfaff D., et al. Catechol-O-methyltransferase-deficient mice exhibit sexually dimorphic changes in catecholamine levels and behavior. Proc Natl Acad Sci U S A 95 (1998) 9991-9996
30. Grandy D.K., Litt M., Allen L., Bunzow J.R., Marchionni M., Makam H., et al. The human dopamine D2 receptor gene is located on chromosome 11 at q22-q23 and identifies a TaqI RFLP. Am J Hum Genet 45 (1989) 778-785
31. Grandy D.K., Zhang Y., and Civelli O. PCR detection of the TaqA RFLP at the DRD2 locus. Hum Mol Genet 2 (1993) 2197
32. Hall H., Farde L., Halldin C., Hurd Y.L., Pauli S., and Sedvall G. Autoradiographic localization of extrastriatal D2-dopamine receptors in the human brain using [125I]epidepride. Synapse 23 (1996) 115-123
33. Halldin C., Farde L., Hogberg T., Mohell N., Hall H., Suhara T., et al. Carbon-11-FLB 457: a radioligand for extrastriatal D2 dopamine receptors. J Nucl Med 36 (1995) 1275-1281
34. Hill S.Y., Hoffman E.K., Zezza N., Thalamuthu A., Weeks D.E., Matthews A.G., et al. Dopaminergic mutations: within-family association and linkage in multiplex alcohol dependence families. Am J Med Genet B Neuropsychiatr Genet 147B (2008) 517-526
35. Hirvonen J., van Erp T.G., Huttunen J., Nagren K., Huttunen M., Aalto S., et al. Striatal dopamine D1 and D2 receptor balance in twins at increased genetic risk for schizophrenia. Psychiatry Res 146 (2006) 13-20
36. Hirvonen M., Laakso A., Nagren K., Rinne J.O., and Pohjalainen T. C957T polymorphism of the dopamine D2 receptor (DRD2) gene affects striatal DRD2 availability in vivo. Mol Psychiatry 9 (2004) 1060-1061
37. Hirvonen M., Laakso A., Någren K., Rinne J.O., and Pohjalainen T. C957T polymorphism of the dopamine D2 receptor (DRD2) gene affects striatal DRD2 availability in vivo. Mol Psychiatry 10 (2005) 889 (corrigendum)
38. Hirvonen MM, Laakso A, Någren K, Rinne JO, Pohjalainen T, Hietala J. C957T polymorphism of dopamine D2 receptor (DRD2) gene affects striatal DRD2 in vivo availability by changing the receptor affinity. Synapse; in press.
39. Innis R.B., Cunningham V.J., Delforge J., Fujita M., Gjedde A., Gunn R.N., et al. Consensus nomenclature for in vivo imaging of reversibly binding radioligands. J Cereb Blood Flow Metab 27 (2007) 1533-1539
40. Jongen-Relo A.L., Docter G.J., Jonker A.J., Vreugdenhil E., Groenewegen H.J., and Voorn P. Differential effects of dopamine depletion on the binding and mRNA levels of dopamine receptors in the shell and core of the rat nucleus accumbens. Brain Res Mol Brain Res 25 (1994) 333-343
41. Jonsson E.G., Nothen M.M., Grunhage F., Farde L., Nakashima Y., Propping P., et al. Polymorphisms in the dopamine D2 receptor gene and their relationships to striatal dopamine receptor density of healthy volunteers. Mol Psychiatry 4 (1999) 290-296
42. Kaasinen V., Vilkman H., Hietala J., Nagren K., Helenius H., Olsson H., et al. Age-related dopamine D2/D3 receptor loss in extrastriatal regions of the human brain. Neurobiol Aging 21 (2000) 683-688
43. Karoum F., Chrapusta S.J., and Egan M.F. 3-Methoxytyramine is the major metabolite of released dopamine in the rat frontal cortex: reassessment of the effects of antipsychotics on the dynamics of dopamine release and metabolism in the frontal cortex, nucleus accumbens, and striatum by a simple two pool model. J Neurochem 63 (1994) 972-979
44. Kessler R.M., Whetsell W.O., Ansari M.S., Votaw J.R., de Paulis T., Clanton J.A., et al. Identification of extrastriatal dopamine D2 receptors in post mortem human brain with [125I]epidepride. Brain Res 609 (1993) 237-243
45. Knapp M., Wong A.H., Schoots O., Guan H.C., and Van Tol H.H. Promoter-independent regulation of cell-specific dopamine receptor expression. FEBS Lett 434 (1998) 108-114
46. Lammertsma A.A., and Hume S.P. Simplified reference tissue model for PET receptor studies. NeuroImage 4 (1996) 153-158
47. Landwehrmeyer B., Mengod G., and Palacios J.M. Dopamine D3 receptor mRNA and binding sites in human brain. Brain Res Mol Brain Res 18 (1993) 187-192
48. Laruelle M. Imaging synaptic neurotransmission with in vivo binding competition techniques: a critical review. J Cereb Blood Flow Metab 20 (2000) 423-451
49. Laruelle M., Gelernter J., and Innis R.B. D2 receptors binding potential is not affected by Taq1 polymorphism at the D2 receptor gene. Mol Psychiatry 3 (1998) 261-265
50. Lerman C., Jepson C., Wileyto E.P., Epstein L.H., Rukstalis M., Patterson F., et al. Role of functional genetic variation in the dopamine D2 receptor (DRD2) in response to bupropion and nicotine replacement therapy for tobacco dependence: results of two randomized clinical trials. Neuropsychopharmacology 31 (2006) 231-242
51. Levesque D., Diaz J., Pilon C., Martres M.P., Giros B., Souil E., et al. Identification, characterization, and localization of the dopamine D3 receptor in rat brain using 7-[3H]hydroxy-N,N-di-n-propyl-2-aminotetralin. Proc Natl Acad Sci U S A 89 (1992) 8155-8159
52. Lewis D.A., Melchitzky D.S., Sesack S.R., Whitehead R.E., Auh S., and Sampson A. Dopamine transporter immunoreactivity in monkey cerebral cortex: regional, laminar, and ultrastructural localization. J Comp Neurol 432 (2001) 119-136
53. Lewis D.A., Sesack S.R., Levey A.I., and Rosenberg D.R. Dopamine axons in primate prefrontal cortex: specificity of distribution, synaptic targets, and development. Adv Pharmacol 42 (1998) 703-706
54. Lumme V., Aalto S., Ilonen T., and Nagren K. Dopamine D2/D3 receptor binding in the anterior cingulate cortex and executive functioning. Psychiatry Res 156 (2007) 69-74
55. Mazei M.S., Pluto C.P., Kirkbride B., and Pehek E.A. Effects of catecholamine uptake blockers in the caudate-putamen and subregions of the medial prefrontal cortex of the rat. Brain Res 936 (2002) 58-67
56. Meador-Woodruff J.H., Damask S.P., Wang J., Haroutunian V., Davis K.L., and Watson S.J. Dopamine receptor mRNA expression in human striatum and neocortex. Neuropsychopharmacology 15 (1996) 17-29
57. Meyer J.H., Gunn R.N., Myers R., and Grasby P.M. Assessment of spatial normalization of PET ligand images using ligand-specific templates. NeuroImage 9 (1999) 545-553
58. Minowa T., Minowa M.T., and Mouradian M.M. Analysis of the promoter region of the rat D2 dopamine receptor gene. Biochemistry 31 (1992) 8389-8396
59. Monakhov M., Golimbet V., Abramova L., Kaleda V., and Karpov V. Association study of three polymorphisms in the dopamine D2 receptor gene and schizophrenia in the Russian population. Schizophr Res 100 (2008) 302-307
60. Montgomery A.J., Asselin M.C., Farde L., and Grasby P.M. Measurement of methylphenidate-induced change in extrastriatal dopamine concentration using [11C]FLB 457 PET. J Cereb Blood Flow Metab 27 (2007) 369-377
61. Moron J.A., Brockington A., Wise R.A., Rocha B.A., and Hope B.T. Dopamine uptake through the norepinephrine transporter in brain regions with low levels of the dopamine transporter: evidence from knock-out mouse lines. J Neurosci 22 (2002) 389-395
62. Murphy B.C., O'Reilly R.L., and Singh S.M. Site-specific cytosine methylation in S-COMT promoter in 31 brain regions with implications for studies involving schizophrenia. Am J Med Genet B Neuropsychiatr Genet 133 (2005) 37-42
63. Neville M.J., Johnstone E.C., and Walton R.T. Identification and characterization of ANKK1: a novel kinase gene closely linked to DRD2 on chromosome band 11q23.1. Human Mutat 23 (2004) 540-545
64. Noble E.P. D2 dopamine receptor gene in psychiatric and neurologic disorders and its phenotypes. Am J Med Genet B Neuropsychiatr Genet 116 (2003) 103-125
65. Noble E.P., Blum K., Ritchie T., Montgomery A., and Sheridan P.J. Allelic association of the D2 dopamine receptor gene with receptor-binding characteristics in alcoholism. Arch Gen Psychiatry 48 (1991) 648-654
66. Okauchi T., Suhara T., Maeda J., Kawabe K., Obayashi S., and Suzuki K. Effect of endogenous dopamine on endogenous dopamine on extrastriated [(11)C]FLB 457 binding measured by PET. Synapse 41 (2001) 87-95
67. Olsson H., Halldin C., and Farde L. Differentiation of extrastriatal dopamine D2 receptor density and affinity in the human brain using PET. NeuroImage 22 (2004) 794-803
68. Petronis A. The regulation of D2 dopamine receptor gene expression: epigenetic factors should not be forgotten. Mol Psychiatry 4 (1999) 212-213
69. Pohjalainen T., Nagren K., and Syvalahti E.K. The dopamine D2 receptor 5′-flanking variant, -141C Ins/Del, is not associated with reduced dopamine D2 receptor density in vivo. Pharmacogenetics 9 (1999) 505-509
70. Pohjalainen T., Rinne J.O., Nagren K., Lehikoinen P., Anttila K., Syvalahti E.K., et al. The A1 allele of the human D2 dopamine receptor gene predicts low D2 receptor availability in healthy volunteers. Mol Psychiatry 3 (1998) 256-260
71. Ponce G., Hoenicka J., Jimenez-Arriero M.A., Rodriguez-Jimenez R., Aragues M., Martin-Sune N., et al. DRD2 and ANKK1 genotype in alcohol-dependent patients with psychopathic traits: association and interaction study. Br J Psychiatry 193 (2008) 121-125
72. Popendikyte V., Laurinavicius A., Paterson A.D., Macciardi F., Kennedy J.L., and Petronis A. DNA methylation at the putative promoter region of the human dopamine D2 receptor gene. NeuroReport 10 (1999) 1249-1255
73. Ritchie T., and Noble E.P. Association of seven polymorphisms of the D2 dopamine receptor gene with brain receptor-binding characteristics. Neurochem Res 28 (2003) 73-82
74. Rodriguez-Jimenez R., Hoenicka J., Jimenez-Arriero M.A., Ponce G., Bagney A., Aragues M., et al. Performance in the Wisconsin Card Sorting Test and the C957T polymorphism of the DRD2 gene in healthy volunteers. Neuropsychobiology 54 (2006) 166-170
75. Sakata M., Farooqui S.M., and Prasad C. Post-transcriptional regulation of loss of rat striatal D2 dopamine receptor during aging. Brain Res 575 (1992) 309-314
76. Scatton B., Dubois A., Dubocovich M.L., Zahniser N.R., and Fage D. Quantitative autoradiography of 3H-nomifensine binding sites in rat brain. Life Sci 36 (1985) 815-822
77. Sesack S.R., Hawrylak V.A., Matus C., Guido M.A., and Levey A.I. Dopamine axon varicosities in the prelimbic division of the rat prefrontal cortex exhibit sparse immunoreactivity for the dopamine transporter. J Neurosci 18 (1998) 2697-2708
78. Slifstein M., and Laruelle M. Models and methods for derivation of in vivo neuroreceptor parameters with PET and SPECT reversible radiotracers. Nucl Med Biol 28 (2001) 595-608
79. Sudo Y., Suhara T., Inoue M., Ito H., Suzuki K., Saijo T., et al. Reproducibility of [11 C]FLB 457 binding in extrastriatal regions. Nucl Med Commun 22 (2001) 1215-1221
80. Suzuki M., Hurd Y.L., Sokoloff P., Schwartz J.C., and Sedvall G. D3 dopamine receptor mRNA is widely expressed in the human brain. Brain Res 779 (1998) 58-74
81. Thompson J., Thomas N., Singleton A., Piggott M., Lloyd S., Perry E.K., et al. D2 dopamine receptor gene (DRD2) Taq1 A polymorphism: reduced dopamine D2 receptor binding in the human striatum associated with the A1 allele. Pharmacogenetics 7 (1997) 479-484
82. van Tol H.H., Riva M., Civelli O., and Creese I. Lack of effect of chronic dopamine receptor blockade on D2 dopamine receptor mRNA level. Neurosci Lett 111 (1990) 303-308
83. Vilkman H., Kajander J., Nagren K., Oikonen V., and Syvalahti E. Measurement of extrastriatal D2-like receptor binding with [11C]FLB 457-a test-retest analysis. Eur J Nucl Med 27 (2000) 1666-1673
84. Xu H., Kellendonk C.B., Simpson E.H., Keilp J.G., Bruder G.E., Polan H.J., et al. DRD2 C957T polymorphism interacts with the COMT Val158Met polymorphism in human working memory ability. Schizophr Res 90 (2007) 104-107
85. Yavich L., Forsberg M.M., Karayiorgou M., Gogos J.A., and Mannisto P.T. Site-specific role of catechol-O-methyltransferase in dopamine overflow within prefrontal cortex and dorsal striatum. J Neurosci 27 (2007) 10196-10209
86. Zai C.C., Hwang R.W., De Luca V., Muller D.J., King N., Zai G.C., et al. Association study of tardive dyskinesia and twelve DRD2 polymorphisms in schizophrenia patients. Int J Neuropsychopharmacol (2006) 1-13