Dopamine D3-receptor gene variant and susceptibility to tardive dyskinesia in schizophrenic patients

Molecular Psychiatry

Volumn 2, Issue 2, 1997, Pages 139-145

  Steen, V M ^a   Lovlie R ^a   MacEwan, T ^b   McCreadie, R G ^b  

^a HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^b Crichton Royal Hospital   (United Kingdom)

Author keywords

Anti psychotic drugs; DRD3 polymorphism; Extrapyramidal side effects; Genetic risk factor; Neuroleptics

Indexed keywords

DOPAMINE 3 RECEPTOR; NEUROLEPTIC AGENT;

ADULT; AGED; ALLELE; ARTICLE; AUTOSOMAL INHERITANCE; CLINICAL TRIAL; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; DISEASE PREDISPOSITION; DRUG CHOICE; DRUG DESIGN; EXTRAPYRAMIDAL SYNDROME; FEMALE; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE; HOMOZYGOSITY; HUMAN; HUMAN CELL; LONGITUDINAL STUDY; MAJOR CLINICAL STUDY; MALE; PATHOPHYSIOLOGY; PRIORITY JOURNAL; RECEPTOR GENE; RISK; RISK FACTOR; SCHIZOPHRENIA; TARDIVE DYSKINESIA;

EID: 0030903368     PISSN: 13594184     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.mp.4000249     Document Type: Article

References (74)

1. McGuffin P, Owen MJ, Farmer AE. Genetic basis of schizophrenia. Lancet 1995; 346: 678-682.
2. Gershon ES, Martinez M, Goldin LR, Gejman PV. Genetic mapping of common diseases: the challenges of manic-depressive illness and schizophrenia. Trends Genet Sci 1990; 6: 282-287.
3. Peltonen L. All out for chromosome six. Nature 1995; 378: 665-666.
4. Straub RE, MacLean CJ, Kendler KS. The putative schizophrenia locus on chromosome 6p: a brief overview of the linkage studies. Mol Psychiatry 1996; 1: 89-92.
5. Crocq MA, Mant R, Asherson P, Williams J, Hode Y, Mayerova A, Collier D, Lannfelt L, Sokoloff P, Schwartz JC, Gill M, Macher JP, McGuffin P, Owen MJ. Association between schizophrenia and homozygosity at the dopamine D3 receptor gene. J Med Genet 1992; 29: 858-860.
6. Mant R, Williams J, Asherson P, Parfitt E, McGuffin P, Owen MJ. Relationship between homozygosity at the dopamine D3 receptor gene and schizophrenia. Am J Med Genet 1994; 54: 21-26.
7. Kennedy JL, Billett EA, Macciardi FM, Verga M, Parsons TJ, Meltzer HY, Lieberman J, Buchanan JA. Association study of dopamine D3 receptor gene and schizophrenia. Am J Med Genet 1995; 60: 558-562.
8. Asherson P, Mant R, Holmans P, Williams J, Cardno A, Murphy K, Jones L, Collier D, McGuffin P, Owen MJ. Linkage, association and mutational analysis of the dopamine D3 receptor gene in schizophrenia. Mol Psychiatry 1996; 1: 125-132.
9. Shaikh S, Collier DA, Sham PC, Ball D, Aitchison K, Vallada H, Smith I, Gill M, Kerwin RW. Allelic association between a Ser-9-Gly polymorphism in the dopamine D3 receptor gene and schizophrenia. Hum Genet 1996; 97: 714-719.
10. Griffon N, Crocq MA, Pilon C, Martres MP, Mayerova A, Uyanik G, Burgert E, Duval F, Macher JP, Javoy-Agid F, Tamminga CA, Schwartz JC, Sokoloff P. Dopamine D3 receptor gene: organization, transcript variants, and polymorphism associated with schizophrenia. Am J Med Genet 1996; 67: 63-70.
11. Ebstein RP, Maccardi F, Blaine D, Serretti A, Gur E, Verga M, Nebamov L, Belmaker RH, Avnon M, Lerer B. Evidence for an association between the dopamine D3 receptor gene (DRD3) and schizophrenia. Hum Heredity 1997 (in press).
12. Nimgaonkar VL, Zhang XR, Caldwell JG, Ganguli R, Chakravarti A. Association study of schizophrenia with dopamine D3 receptor gene polymorphisms: probable effects of family history of schizophrenia? Am J Med Genet 1993; 48: 214-217.
13. Yang L, Wiese C, Lannfelt L, Sokoloff P, Xu CT, Zeng Z, Schwartz JC, Liu X, Moises HW. No association between schizophrenia and homozygosity at the D3 dopamine receptor gene. Am J Med Genet 1993; 48: 83-86.
14. Nanko S, Sasaki T, Fukuda R, Hattori M, Dai XY, Kazamatsuri H, Kuwata S, Juji T, Gill M. A study of the association between schizophrenia and the dopamine D3 receptor gene. Hum Genet 1993; 92: 336-338.
15. Jönsson E, Lannfelt L, Sokoloff P, Schwartz JC, Sedvall G. Lack of association between schizophrenia and alleles in the dopamine D3 receptor gene. Acta Psychiatr Scand 1993; 87: 345-349.
16. Nöthen MM, Cichon S, Propping R, Fimmers R, Schwab SG, Wildenauer DB. Excess of homozygosity at the dopamine D3 receptor gene in schizophrenia not confirmed. J Med Genet 1993; 30: 708.
17. Di Bella D, Catalano M, Strukel A, Nobile M, Novelli E, Smeraldi E. Distribution of the MscI polymorphism of the dopamine D3 receptor in an Italian psychotic population. Psychiatr Genet 1994; 4: 39-42.
18. Sabate O, Campion D, d'Amato T, Martres MP, Sokoloff P, Giros B, Leboyer M, Jay M, Guedj F, Thibaut F, Dollfus S, Preterre P, Petit M, Babron MC, Waksman G, Mallet J, Schwartz JC. Failure to find evidence for linkage or association between the dopamine D3 receptor gene and schizophrenia. Am J Psychiatry 1994; 151: 107-111.
19. Laurent C, Savoye C, Samolyk D, Meloni R, Mallet J, Campion D, Martinez M, d'Amato T, Bastard C, Dollfus S. Homozygosity at the dopamine D3 locus is not associated with schizophrenia. J Med Genet 1994; 31: 260.
20. Gaitonde EJ, Morris A, Sivagnanasundaram S, McKenna PJ, Hunt DM, Mollon JD. Assessment of association of D3 dopamine receptor MscI polymorphism with schizophrenia: analysis of symptom ratings, family history, age at onset, and movement disorders. Am J Med Genet 1996; 67: 455-458.
21. Farde L, Wiesel FA, Nordström AL, Sedvall G. D1 and D2-dopamine receptor occupancy during treatment with conventional and atypical neuroleptics. Psychopharmacology 1989; 99: S28-S31.
22. Farde L, Nordström AL, Wiesel FA, Pauli S, Halldin C, Sedwall G. Positron emission tomographic analysis of central D1 and D2 dopamine receptor occupancy in patients treated with classical neuroleptics and clozapine. Relation to extrapyramidal side effects. Arch Gen Psychiatry 1992; 49: 538-544.
23. Smith JM, Baldessarini RJ. Changes in prevalence, severity and recovery in tardive dyskinesia with age. Arch Gen Psychiatry 1980; 37: 1368-1373.
24. Kane JM, Smith JM. Tardive dyskinesia: prevalence and risk factors 1959-1979. Arch Gen Psychiatry 1982; 39: 473-481.
25. Johnson GFS, Hunt GE, Rey JM. Incidence and severity of tardive dyskinesia increase with age. Arch Gen Psychiatry 1982; 39: 486.
26. McCreadie RG, Barron ET, Winslow GS. The Nithsdale schizophrenia survey. II. Abnormal movements. Br J Psychiatry 1982; 140: 587-590.
27. Morgenstern H, Glazer WH. Identifying risk factors for tardive dyskinesia among long-term outpatients maintained with neuroleptic medications. Arch Gen Psychiatry 1993; 50: 723-733.
28. Yassa R, Nair V, Schwartz G. Tardive dyskinesia: a two-year follow-up study. Psychosomatics 1984; 25: 852-855.
29. Mukherjee S, Wisniewski A, Bilder R, Sackeim HA. Possible association between tardive dyskinesia and altered carbohydrate metabolism. Arch Gen Psychiatry 1985; 42: 205.
30. Yassa R, Jeste DV. Gender differences in tardive dyskinesia: a critical review of the literature. Schizophrenia Bull 1992; 18: 701-715.
31. Woerner MG, Saltz BL, Kane JM, Lieberman JA, Alvir JMJ. Diabetes and development of tardive dyskinesia. Am J Psychiatry 1993; 150: 966-968.
32. Kane JM. Tardive dyskinesia: epidemiological and clinical presentation. In: Bloom FE, Kupfer DJ (eds). Psychopharmacology: the Fourth Generation of Progress. Raven Press: New York, 1995, pp 1485-1495.
33. Chakos MH, Alvir JMJ, Woerner MG, Koreen A, Geisler S, Mayerhoff D, Sobel S, Kane JM, Borenstein M, Lieberman JA. Incidence and correlates of tardive dyskinesia in first episode of schizophrenia. Arch Gen Psychiatry 1996; 53: 313-319.
34. Yassa R, Ananth J. Familial tardive dyskinesia. Am J Psychiatry 1981; 138: 1618-1619.
35. Weinhold P, Wegner JT, Kane JM. Familial occurrence of tardive dyskinesia. J Clin Psychiatry 1981; 42: 165-166.
36. Andreassen OA. MacEwan T, Gulbrandsen AK, McCreadie RG, Steen VM. Non-functional CYP2D6 alleles and risk for neuroleptic-induced movement disorders in schizophrenic patients. Psychopharmacology 1997 (in press).
37. Giros B, Martres MP, Sokoloff P, Schwartz JC. cDNA cloning of the human dopaminergic: D3 receptor and chromosome identification. CR Acad Sci (Paris) 1990; 311: 501-508.
38. Le Coniat M, Sokoloff P, Hillion J, Martres MP, Giros B, Pilon C, Schwartz JC, Berger R. Chromosomal localization of the human D3 dopamine receptor gene. Hum Genet 1991; 87: 618-620.
39. Lannfelt L, Sokoloff P, Martres MP, Pilon C, Giros B, Jönsson E, Sedvall G, Schwartz JC. Amino acid substitution in the dopamine D3 receptor as a useful polymorphism for investigating psychiatric disorders. Psychiatr Genet 1992; 2: 249-256.
40. Lundstrom K, Turpin MP. Proposed schizophrenia-related gene polymorphism; expression of the Ser9Gly mutant human dopamine D3 receptor with the Semliki forest virus system. Biochem Biophys Res Commun 1996; 225: 1068-1072.
41. Daly SA, Waddington JL. Behavioural effects of the putative D-3 dopamine receptor agonist 7-OH-DPAT in relation to other 'D-2-like' agonists. Neuropharmacology 1993; 32: 509-510.
42. Svensson K, Carlsson A, Huff RM, Kling-Petersen T, Waters N. Behavioral and neurochemical data suggest functional differences between dopamine D2 and D3 receptors. Eur J Pharmacol 1994; 263: 235-243.
43. Svensson K, Carlsson A, Waters N. Locomotor inhibition by the D3 ligand R-(+)-7-OH-DPAT is independent of changes in dopamine release. J Neural Transm 1994; 95: 71-74.
44. Waters N, Svensson K, Haadsma-Svensson SR, Smith MW, Carlsson A. The dopamine D3-receptor: a postsynaptic receptor inhibitory on rat locomotor activity. J Neural Transm 1993; 94: 11-19.
45. Accili D, Fishburn CS, Drago J, Steiner H, Lachowicz JE, Park BH, Gauda EB, Lee EJ, Cool MH, Sibley DR, Gerfen CR, Westphal H, Fuchs S. A targeted mutation of the D3 dopamine receptor gene is associated with hyperactivity in mice. Proc Natl Acad Sci USA 1996; 93: 1945-1949.
46. McCreadie RG. The Nithsdale schizophrenia survey. I. Psychiatric and social handicaps. Br J Psychiatry 1982; 140: 582-586.
47. McCreadie RG, MacDonald E, Wiles D, Campbell G, Paterson JR. The Nithsdale schizophrenia surveys. XIV. Plasma lipid peroxide and serum vitamin E levels in patients with and without tardive dyskinesia, and in normal subjects. Br J Psychiatry 1995; 167: 610-617.
48. World Health Organization. Mental Disorders. Glossary and Guide to their Classification in Accordance with the Ninth Revision of the International Classification of Diseases. World Health Organization: Geneva, Switzerland, 1978.
49. American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders (3rd edition, revised) (DSM-III-R). American Psychiatric Association: Washington, DC, 1987.
50. McGuffin P, Farmer AE, Harvey I. A polydiagnostic application of operational criteria in studies of psychotic illness: development and reliability of the OPCRIT system. Arch Gen Psychiatry 1991; 48: 764-770.
51. US Department of Health, Education & Welfare. Abnormal involuntary movements scale. In: Guy W (ed). ECDEU Assessment Manual. US Department of Health, Education & Welfare: Rockville, Maryland, 1976.
52. Schooler NR, Kane JM. Research diagnoses for tardive dyskinesia. Arch Gen Psychiatry 1982; 39: 486-487.
53. Barron ET, McCreadie RG. One year follow-up of tardive dyskinesia. Br J Psychiatry 1983; 143: 423-424.
54. Robinson ADT, McCreadie RG. The Nithsdale schizophrenia survey. V. Follow-up of tardive dyskinesia at 31/2 years. Br J Psychiatry 1986; 149: 621-623.
55. McCreadie RG, Robertson LJ, Wiles DH. The Nithsdale schizophrenia surveys. IX. Akathisia, parkinsonism, tardive dyskinesia and plasma neuroleptic levels. Br J Psychiatry 1992; 161: 793-799.
56. Sokoloff P, Giros B, Martres MP, Bouthenet ML, Schwartz JC. Molecular cloning of a novel dopamine receptor (D3) as a target for neuroleptics. Nature 1990; 347: 146-151.
57. 2-family receptor distribution in human postmortem tissue: an autoradiographic study. NeuroReport 1995; 6: 2505-2512.
58. Wiese C, Lannfelt L, Kristbjarnarson H, Yang L, Zoega T, Sokoloff P, Ivarsson O, Schwartz JC, Moises HW, Helgason T. No evidence of linkage between schizophrenia and D3 dopamine receptor gene locus in Icelandic pedigrees. Psychiatry Res 1993; 46: 69-78.
59. Nanko S, Fukuda R, Hattori M, Sasaki T, Dai XY, Yamaguchi K, Kazamatsuri H. Further evidence of no linkage between schizophrenia and the dopamine D3 receptor gene locus. Am J Med Genet 1994; 54: 264-267.
60. Seeman P, Van Tol HHM. Dopamine receptor pharmacology. Trends Pharmacol Sci 1994; 15: 264-270.
61. Valine194Glycine, is insensitive to dopamine and clozapine: report of a homozygous individual. Am J Med Genet 1996; 61: 277-282.
62. Baik JH, Picetti R, Saiardi A, Thiriet G, Dierich A, Depaulis A, Le Meur M, Borrelli E. Parkinsonian-like locomotor impairment in mice lacking dopamine D2 receptors. Nature 1995; 377: 424-428.
63. Tarsy D, Baldessarini RJ. Pharmacologically-induced behavioral supersensitivity to apomorphine. Nature 1973; 245: 262-263.
64. Klawans HL. The pharmacology of tardive dyskinesia. Am J Psychiatry 1973; 130: 82-86.
65. Gunne LM, Häggström JE, Sjöquist B. Association with persistent neuroleptic-induced dyskinesia of regional changes in brain GABA synthesis. Nature 1984; 309: 347-349.
66. Fibiger HC, Lloyd KG. Neurobiological substrates of tardive dyskinesia: the GABA hypothesis. Trends Neurosci 1984; 7: 462-464.
67. McGeer EG, McGeer PL. Duplication of biochemical changes of Huntington's chorea by intrastriatal injections of glutamic and kainic acids. Nature 1976; 263: 517-519.
68. DeKeyser J. Excitotoxic mechanisms may be involved in the pathophysiology of tardive dyskinesia. Clin Neuropharmacol 1991; 14: 562-565.
69. Buckland PR, O'Donovan MC, McGuffin P. Changes in dopamine D1, D2 and D3 receptor mRNA levels in rat brain following antipsychotic treatment. Psychopharmacology 1992; 106: 479-483.
70. Buckland PR, O'Donovan MC, McGuffin P. Clozapine and sulpiride up-regulate D3 receptor mRNA levels. Neuropharmacology 1993; 32: 901-907.
71. Fishburn CS, David C, Carmon S, Fuchs S. The effect of haloperidol on D2 dopamine receptor subtype mRNA levels in the brain. FEBS Lett 1994; 339: 63-66.
72. Lévesque D, Martres MP, Diaz J, Griffon N, Lammers CH, Sokoloff P, Schwartz JC. A paradoxical regulation of the dopamine D3 receptor expression suggests the involvement of an antegrade factor from dopamine neurons. Proc Natl Acad Sci USA 1995; 92: 1719-1723.
73. Wang W, Hahn KH, Bishop JF, Gao DQ, Jose PA, Mouradian MM. Up-regulation of D3 dopamine receptor mRNA by neuroleptics. Synapse 1996; 23: 232-235.
74. Tang L, Todd RD, O'Malley KL. Dopamine D2 and D3 receptors inhibit dopamine release. J Pharmacol Exp Ther 1994; 270: 475-479.