Distribution of alleles of DRD4 and DAT1 genes of the dopaminergic system in the mixed Chilean population;Distribución de alelos de los genes DRD4 y DAT1 del sistema dopaminérgico en la población mixta de Santiago de Chile

Revista Medica de Chile

Volumn 131, Issue 2, 2003, Pages 135-143

  Vieyra S, Gonzalo ^a   Moraga V, Mauricio ^a   Henríquez B, Hugo ^a   Aboitiz D, Francisco ^b   Rothhammer E, Francisco ^a  

^a UNIVERSITY OF CHILE   (Chile)

^b Santiago Centro   (Chile)

Author keywords

Alleles; Carrier proteins; Gene frequency; Receptors, dopamine

Indexed keywords

DOPAMINE RECEPTOR; DOPAMINE TRANSPORTER; CARRIER PROTEIN; DOPAMINE 2 RECEPTOR; DOPAMINE 4 RECEPTOR; DRD4 PROTEIN, HUMAN; MEMBRANE PROTEIN; NERVE PROTEIN; SLC6A3 PROTEIN, HUMAN;

ALLELE; ARTICLE; BLOOD DONOR; BLOOD SAMPLING; CHILE; DOPAMINERGIC SYSTEM; GENE AMPLIFICATION; GENE FREQUENCY; GENETIC ANALYSIS; GENETIC POLYMORPHISM; HUMAN; POLYMERASE CHAIN REACTION; POPULATION; PUBLIC HOSPITAL; AMERICAN INDIAN; ATTENTION DEFICIT DISORDER; GENETICS; POPULATION GENETICS; REVIEW;

ALLELES; ATTENTION DEFICIT DISORDER WITH HYPERACTIVITY; CHILE; DOPAMINE PLASMA MEMBRANE TRANSPORT PROTEINS; GENE FREQUENCY; GENETICS, POPULATION; HUMANS; INDIANS, SOUTH AMERICAN; MEMBRANE GLYCOPROTEINS; MEMBRANE TRANSPORT PROTEINS; NERVE TISSUE PROTEINS; POLYMERASE CHAIN REACTION; RECEPTORS, DOPAMINE D2; RECEPTORS, DOPAMINE D4;

EID: 0037714054     PISSN: 00349887     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (75)

1. VALLONE, D, PICETTI R, BORRELLI E. Structure and function of dopamine receptors. Neurosci Biobehav Rev 2000; 24: 125-32.
2. a edición, Editorial Masson, Barcelona, España 2000; 235-60.
3. AMARA SG, KUHAR MJ. Neurotransmitter transporters: recent progress. Annu Rev Neurosci 1993; 16: 73-93.
4. PAGE G, CHALON S, BARRIER L, PIRIOU A, HUGUET F. Characterization of both dopamine uptake systems in rat striatal slices by specific pharmacological tools. Neurochem Int 1998; 33: 459-66.
5. SEEMAN P, VAN TOL HHM. Dopamine receptor pharmacology. Trends Pharmacol Sci 1994; 15: 264-70.
6. COMINGS DE, COMINGS BG, MUHLEMAN D, DIETZ G, SHAHBAHRAMI B, TAST D ET AL. The dopamine D2 receptor locus as a modifying gene in neuropsychiatric disorders. JAMA 1991; 266: 1793-800.
7. SEEMAN P. Dopamine receptors and psychosis. Sci Am (Sci Med) 1995; 2: 28-37.
8. INADA T, SUGITA T, DOBASHI I, INAGAKI A, KITAO Y, MATSUDA G ET AL. Dopamine transporter gene polymorphism and psychiatric symptoms seen in schizofrenic patients at their first episode. Am J Med Genet (Neuropsychiatr Genet) 1996; 67: 406-8.
9. KOOB GF, LE MOAL M. Drug abuse: Hedonic homeostatic dysregulation. Science 1997; 278: 52-8.
10. ROTHHAMMER F, ROTHHAMMER P, LLOP E. Genética de los desórdenes adictivos. Rev Méd Chile 2000; 128: 1279-82.
11. WISE RA, BOZARTH MA. A psychomotor stimulant theory of addiction. Psycol Rev 1987; 94: 469-92.
12. BUNZOW JR, VAN TOL HH, GRANDY DK, ALBERT P, SALON J, CHRISTIE M ET AL. Cloning and expression of rat D2 dopamine receptor cDNA. Nature 1988; 336: 783-7.
13. GINGRICH JA, CARON MG. Recent advances in the molecular biology of dopamine receptors. Annu Rev Neurosci 1993; 16: 299-321.
14. SWANSON JM, SUNOHARA GA, KENNEDY JL, REGINO R, FINEBERG E, DAVIES M ET AL. Association of the dopamine receptor D4 (DRD4) gene with a refined phenotype of attention-deficit/hyperactivity disorder (ADHD): a family-based approach. Mol Psychiatry 1998; 3: 38-41.
15. VAN TOL HHM, WU CM, GUAN H-C, OHARA K, BUNZOW JR, CIVELLI O ET AL. Multiple dopamine D4 receptor variants in the human population. Nature 1992; 358: 149-52.
16. VANDENBERGH DJ, PERSICO AM, HAWKINS AL, GRIFFIN CA, LI X, JABS EW ET AL. Human dopamine transporter gene (DAT1) maps to chromosome 5p15.3 and displays a VNTR. Genomics 1992; 14: 1104-6.
17. LA HOSTE, GJ, SWANSON JM, WIGAL SB, GABLE C, WIGAL T, KING N ET AL. Dopamine D4 receptor gene polymorphism is associated with attention deficit hyperactivity disorder. Mol Psychiatry 1996; 1: 121-4.
18. ROWE DC, STEVER C, GIEDINGHAGEN LN, GARD JM, CLEVELAND HH, TERRIS ST ET AL. Dopamine D4 receptor polymorphism and attention deficit hyperactivity disorder. Mol Psychiatry 1998; 3: 419-26.
19. SMALLEY SL, BAILEY JN, PALMER CG, CANTWELL DP, MCGOUCH JJ, DEL'HOMME MA ET AL. Evidence that the dopamine D4 receptor is a susceptibility gene in attention deficit hyperactivity disorder. Mol Psychiatry 1998; 3: 427-30.
20. SWANSON JM, FLODMAN P, KENNEDY J, SPENCE MA, MOYZIS R, SCHUCK S ET AL. Dopamine genes and ADHD. Neurosci Biobehav Rev 2000; 24: 21-5.
21. FARAONE SV, BIEDERMAN J, WEIFFENBACH B, KEITH T, CHU MP, WEAVER A ET AL. Dopamine D4 gene 7-repeat allele and attention deficit hyperactivity disorder. Am J Psychiatry 1999; 156: 768-70.
22. BARR CL, WIGG KG, BLOOM S, SCHACHAR R, ROBERTS W, MALONE M ET AL. Further evidence from haplotype analysis for linkage of the dopamine D4 receptor gene and attention-deficit/hyperactivity disorder. Am J Med Genet (Neuropsychiatr Genet) 2000; 96: 262-7.
23. HOLMES J, PAYTON A, BARRETT JH, HEVER T, FITZPATRICK H, TRUMPER AL ET AL. A family-based and case control association study of the dopamine D4 receptor gene and dopamine transporter gene in attention deficit hyperactivity disorder. Mol Psychiatry 2000; 5: 523-30.
24. MUGLIA P, JAIN U, MACCIARDI F, KENNEDY JL. Adult attention deficit hyperactivity disorder and the dopamine D4 receptor gene. Am J Med Genet (Neuropsychiatr Genet) 2000; 96: 273-7.
25. TAHIR E, YAZGAN Y, CIRAKOGLU B, OZBAY F, WALDMAN I, ASHERSON PJ. Association and linkage of DRD4 and DRD5 with attention deficit hiperactivity disorder (ADHD) in a sample of Turkish children. Mol Psychiatry 2000; 5: 396-404.
26. ROMAN T, SCHMITZ M, POLANCZYK G, EIZIRIK M, ROHDE LA, HUTZ MH. Attention deficit hyperactivity disorder: a study of association with both the dopamime transporter gene and the dopamine D4 receptor gene. Am J Med Genet (Neuropsychiatr Genet) 2001; 105: 471-8.
27. COMINGS DE. Clinical and molecular genetics of ADHD and Tourette syndrome. Two related polygenic disorders. Ann N Y Acad Sci 2001; 931: 50-83.
28. FARAONE SV, DOYLE AE, MICK E, BIEDERMAN J. Meta-Analysis of the association between the 7-repeat allele of the dopamine D4 receptor gene and attention deficit hyperactivity disorder. Am J Psychiatry 2001; 158: 1052-7.
29. BENJAMIN J, LI L, PATTERSON C, GREENBERG BD, MURPHY DL, HAMER DH. Population and familiar association between the D4 dopamine receptor gene and measures of novelty seeking. Nat Genet 1996 ; 12: 81-4.
30. EBSTEIN RP, NOVICK O, UMANSKY R, PRIEL B, OSHER Y, BLAINE D ET AL. Dopamine D4 receptor (DRD4) exon III polimorphism associated with the human personality trait of novelty seeking. Nat Genet 1996; 12: 78-80.
31. BAU CHD, ROMAN T, ALMEIDA S, HUTZ MH. Dopamine D4 receptor gene and personality dimensions in Brazilian male alcoholics. Psychiat Genet 1999; 9: 139-43.
32. COOK EH, STEIN MA, KRASOWSKI MD, COX NJ, OLKON DM, KIEFFER JE ET AL. Association of attention deficit disorder and the dopamine transporter gene. Am J Hum Genet 1995; 56: 993-8.
33. GILL M, DALY G, HERON S, HAWI Z, FITZGERALD M. Confirmation of association between attention deficit hyperactivity disorder and dopamine transporter polymorphism. Mol Psychiatry 1997; 2: 311-3.
34. WALDMAN ID, ROWE DC, ABRAMOWITZ A, KOZEL T, MOHR JH, SHERMAN SL ET AL. Association and linkage of the dopamine transporter gene and attention deficit hyperactivity disorder in children: heterogeneity owing to diagnostic subtype and severity. Am J Hum Genet 1998; 63: 1767-76.
35. RITZ MC, LAMB RJ, GOLDBERG SR, KUHAR MJ. Cocaine receptors on dopamine transporters are related to self administration of cocaine. Science 1987; 237: 1219-23.
36. UHL GR. Parkinson's disease: Neurotransmitter and neurotoxin receptors and their genes. Eur Neurol 1990; 30: 21-30.
37. SINGER HS, HAHN I-H, MORÁN T. Abnormal dopamine uptake sites in post mortem striatum from patients with Tourette's syndrome. Ann Neurol 1991; 30: 558-62.
38. GELERNTER J, KHANZLER HR, SATEL SL, RAO PA. Genetic association between dopamine transporter protein alleles and the cocaine-induced paranoia. Neuropsychopharmacology 1994; 11: 195-200.
39. CASTELLANOS FX, LAU E, TAYEBI N, LEE P, LONG RE, GIEDD JN ET AL. Lack of association between a dopamine-4 receptor polymorphism and attention-deficit/ hyperactivity disorder: genetic and brain morphometric analyses. Mol Psychiatry 1998; 3: 431-4.
40. COMINGS DE, GONZÁLEZ N, WU S, GADE R, MUHLEMAN D, SAUCIER G ET AL. Studies of the 48 pb repeat polymorphism of the DRD4 gene in impulsive, compulsive, addictive behaviors: Tourette syndrome, ADHD, pathological gambling, and substance abuse. Am J Med Genet (Neuropsychiatr Genet) 1999; 88: 358-68.
41. EISENBERG J, ZOHAR A, MEI-TAL G, STEINBERG A, TARTAKOVSKY E, GRITSENKO I ET AL. A haplotype relative risk study of the dopamine D4 receptor (DRD4) exon III repeat polymorphism and attention deficit hyperactivity disorder (ADHD). Am J Med Genet (Neuropsychiatr Genet) 2000; 96: 258-61.
42. HAWI Z, MCCARRON M, KIRLEY A, DALY G, FITZGERALD M, GILL M. No association of the dopamine DRD4 receptor (DRD4) gene polymorphism with attention-deficit/hyperactivity disorder (ADHD) in the Irish population. Am J Med Genet (Neuropsychiatr Genet) 2000; 96: 268-72.
43. KOTLER M, MANOR I, SEVER Y, EISENBERG J, COHEN H, EBSTEIN RP ET AL. Failure to replicate an excess of the long dopamine D4 exon III repeat polymorphism in ADHD in a family-based study. Am J Med Genet (Neuropsychiatr Genet) 2000; 96: 278-81.
44. MILL JS, CASPI A, MCCLAY J, SUGDEN K, PURCELL S, ASHERSON P ET AL. The dopamine D4 receptor and the hyperactivity phenotype: developmental- epidemiological study. Mol Psychiatry 2002; 7: 383-91.
45. FISHER SE, FRANCKS C, MCCRACKEN JT, MCGOUGH JJ, MARLOW AJ, MCPHIE IL ET AL. A genomewide scan for loci involved in attention-deficit/hyperactivity disorder. Am J Hum Genet 2002; 70: 1183-96.
46. PALMER CGS, BAILEY JN, RAMSEY C, CANTWELL D, SINSHEIMER JS, DEL'HOMME M ET AL. No evidence of linkage or linkage disequilibrium between DAT1 and attention deficit hyperactivity disorder in large sample. Psychiat Genet 1999; 9: 157-60.
47. EYRE SL, ROUNSAVILLE BJ, KLEBER HD. History of childhood hyperactivity in a clinic population of opiate addicts. J New Ment Dis 1982; 170: 522-9.
48. COMINGS DE. Genetic factors in substance abuse based on studies of Tourette syndrome and ADHD probands and relatives. II. Drug abuse. Drug Alcohol Depend 1994; 35: 1-16.
49. WEISS RD, MIRIN SM. Subtypes of cocaine abusers. Psychiatr Clin North Am 1986; 9: 491-501.
50. LAHIRI DK, NURNBERGER J. A rapid non enzimatic method for the preparation of HMW DNA from blood for RFLP studies. Nucl Acids Res 1991; 19: 5444.
51. NANKO S, HATTORI M, IKEDA K, SASAKI T, KAZAMATSURI H, KUWATA S. Dopamine D4 receptor polymorphism and schizophrenia. Lancet 1993; 341: 689-90.
52. SANO A, KONDOH K, KAKIMOTO Y, KONDO I. A 40-nucleotide repeat polymorphism in the human dopamine transporter gene. Hum Genet 1993; 91: 405-6.
53. a edición. Editorial Universitaria. Santiago, 1983.
54. CHANG F-M, KIDD JR, LIVAK KJ, PAKSTIS AJ, KIDD KK. The world-wide distribution of allele frequencies at the human dopamine D4 receptor locus. Hum Genet 1996; 98: 91-101.
55. SERRETTI A, LILLI R, DI BELLA D, BERTELLI S, NOBILE M, NOVELLI E RT AL. Dopamine receptor D4 gene is not associated with mayor psychoses. Am J Med Genet (Neuropsychiatr Genet) 1999; 88: 486-91.
56. SANDER T, HARMS H, DUFEU P, KUHN S, ROMMELSPACHER H, SCHMIDT LG. Dopamine D4 receptor exon III alleles and variation of novelty seeking in alcoholics. Am J Med Genet (Neuropsychiatr Genet) 1997; 74: 483-7.
57. HUTZ MH, ALMEIDA S, COIMBRA CEA JR, SANTOS RV, SALZANO FM. Haplotype and allele frecuencies for three genes of the dopaminergic system in South American Indians. Am J Hum Biol 2000; 12: 638-45.
58. MITCHELL RJ, HOWLETT S, EARL L, WHITE NG, MCCOMB J, SHANFIELD MS ET AL. Distribution of the 3' VNTR polymorphism in the human dopamine transporter gene in world populations. Hum Biol 2000; 72: 295-304.
59. PERSICO AM, MACCIARDI F. Genotypic association between dopamine transporter gene polymorphism and schizophrenia. Am J Med Genet (Neuropsychiatr Genet) 1997; 74: 53-7.
60. BIEDERMAN J, MILBERGER S, FARAONE SV, KIELY K, GUITE J, MICK E ET AL. Impact of adversity on functioning and comorbidity in children with attention-deficit hyperactivity disorder. J Am Acad Child Adolesc Psychiatry 1995; 34: 1495-503.
61. ROIZEN NJ, BLONDIS TA, IRWIN M, RUBINOFF A, KIEFFER J, STEIN MA. Psychiatric and developmental disorders in families of children with attention-deficit hyperactivity disorder. Arch Pediatr Adolesc Med 1996; 150: 203-8.
62. FARAONE SV, BIEDERMAN J, KEENAN K, TSUANG MT. Separation of DSM-III attention deficit disorder and conduct disorder: evidence from a family-genetic study of American child psychiatric patients. Psychol Med 1991; 21: 109-21.
63. BARKLEY RA. Attention-deficit hyperactivity disorder. Sci Am 1998; 279: 66-71.
64. WARREN RP, ODELL JD, WARREN WL, BURGER RA, MACIULIS A, TORRES AR. Is decreased blood plasma concentration of the complement C4B protein associated with attention-deficit hyperactivity disorder? J Am Acad Child Adolesc Psychiatry 1995; 34: 1009-14.
65. LACHIEWICZ AM, DAWSON DV. Behavior problems of young girls with fragile X syndrome: factor scores on the Conners' Parent's Questionnaire. Am J Med Genet 1994; 51: 364-9.
66. MILBERGER S, BIEDERMAN J, FARAONE SV, MURPHY J, TSUANG MT. Attention deficit hyperactivity disorder and comorbid disorders: issues of overlapping symptoms. Am J Psychiatry 1995; 152: 1793-9.
67. WOZNIAK J, BIEDERMAN J, MUNDY E, MENNIN D, FARAONE SV. A pilot family study of childhood-onset mania. J Am Acad Child Adolesc Psychiatry 1995; 34: 1577-83.
68. COMINGS DE. The role of genetic factors in conduct disorder based on studies of Tourette syndrome and attention-deficit hyperactivity disorder probands and their relatives. J Dev Behav Pediatr 1995; 16: 142-57.
69. PAULS DL, LECKMAN JF, COHEN DJ. Familial relationship between Gilles de la Tourette's syndrome, attention deficit disorder, learning disabilities, speech disorders, and stuttering. J Am Acad Child Adolesc Psychiatry 1993; 32: 1044-50.
70. LICHTER DG, JACKSON LA, SCHACHTER M. Clinical evidence of genomic imprinting in Tourette's syndrome. Neurology 1995; 45: 924-8.
71. NOBLE EP, BLUM K, RITCHIE T, MONTGOMERY A, SHERIDAN PJ. Allelic association of the D2 dopamine receptor gene with receptor-binding characteristics in alcoholism. Arch Gen Psychiatry 1991; 48: 648-54.
72. BLUM K, SHERIDAN PJ, WOOD RC, BRAVERMAN ER, CHEN TJ, COMINGS DE. Dopamine D2 receptor gene variants: association and linkage studies in impulsive-addictive-compulsive behaviour. Pharmacogenetics 1995; 5: 121-41.
73. ROWE DC, STEVER C, GIEDINGHAGEN LN, GARD JM, CLEVELAND HH, TERRIS ST ET AL. Dopamine DRD4 receptor polymorphism and attention deficit hyperactivity disorder. Mol Psychiatry 1998; 3: 419-26.
74. WAHLSTEN D. Single-gene influences on brain and behavior. Annu Rev Psychol 1999; 50: 599-624.
75. SWANSON J, OOSTERLAAN J, MURIAS M, SCHUCK S, FLODMAN P, SPENCE MA ET AL. Attention 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 attention. Proc Natl Acad Sci USA 2000; 25; 97: 4754-9.