Dopaminergic mutations: Within-family association and linkage in multiplex alcohol dependence families

American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics

Volumn 147, Issue 4, 2008, Pages 517-526

  Hill, Shirley Y ^a   Hoffman, Eric K ^a   Zezza, Nicholas ^a   Thalamuthu, Anbupalam ^b,c   Weeks, Daniel E ^c   Matthews, Abigail G ^a,c   Mukhopadhyay, Indranil ^c,d  

^a UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF MADRAS   (India)

^c UNIVERSITY OF PITTSBURGH GRADUATE SCHOOL OF PUBLIC HEALTH   (United States)

^d UNIVERSITY OF BURDWAN   (India)

Author keywords

Alcohol dependence; D2 receptor; Linkage; Multiplex families; Pedigree disequilibrium test

Indexed keywords

DOPAMINE 2 RECEPTOR;

ALCOHOLISM; ALLELE; ARTICLE; CONTROLLED STUDY; DOPAMINERGIC SYSTEM; FEMALE; GENE FREQUENCY; GENE LOCUS; GENE MUTATION; GENETIC LINKAGE; GENETIC POLYMORPHISM; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HUMAN; LINKAGE ANALYSIS; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

ALCOHOLISM; CASE-CONTROL STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LINKAGE DISEQUILIBRIUM; NUCLEAR FAMILY; PEDIGREE; POINT MUTATION; RECEPTORS, DOPAMINE D2;

ANIMALIA;

EID: 45149106758     PISSN: 15524841     EISSN: 1552485X     Source Type: Journal    
DOI: 10.1002/ajmg.b.30630     Document Type: Article

References (66)

1. Abecasis GR, Cookson WO. 2000. GOLD-graphical overview of linkage disequilibrium. Bioinformatics 16:182-183.
2. Amadeo S, Fourcade ML, Abbar M, Leroux MG, Castelnau D, Vanisse JL, Mallet J. 1993. Association between D2 receptor gene polymorphism and alcoholism. Psychiatr Genet 3:130-135.
3. American Psychiatric Association. 1982. Diagnostic and statistical manual of mental disorders, 3rd edition. Washington, DC: American Psychiatric Association.
4. American Psychiatric Association. 1987. Diagnostic and statistical manual of mental disorders, 3rd edition, revised. Washington, DC: American Psychiatric Association.
5. Anderson VE, Hauser WA, Rich SS. 1986. Genetic heterogeneity in the epilepsies. Adv Neurol 44:59-75.
6. Arinami T, Itokawa M, Komiyama T, Mitsushio H, Mori H, Mifune H, Hamaguchi H, Toru M. 1993. Association between severity of alcoholism and the A1 allele of the dopamine D2 receptor gene TaqI A RFLP in Japanese. Biol Psychiatry 33:108-114.
7. Arinami T, Gao M, Hamaguchi H, Toru M. 1997. A functional polymorphism in the promoter region of the dopamine D2 receptor gene is associated with schizophrenia. Hum Mol Genet 6:577-582.
8. Blum K, Noble EP, Sheridan PJ, Montgomery A, Ritchie T, Jagadeeswaran P, Nogami H, Briggs AH, Cohn JB. 1990. Allelic association of human dopamine D2 receptor gene in alcoholism. JAMA 263:2055-2060.
9. Bolos AM, Dean M, Lucas-Derse S, Ramsburg M, Brown GL, Goldman D. 1990. Population and pedigree studies reveal a lack of association between the dopamine D2 receptor gene and alcoholism. JAMA 264:3156-3160.
10. Cook BL, Wang ZW, Crowe RR, Hauser R, Freimer M. 1992. Alcoholism and the D2 receptor gene. Alcohol Clin Exp Res 16:806-809.
11. Duan J, Wainwright MS, Comeron JM, Saitou N, Sanders AR, Gelernter J, Gejman PV. 2003. Synonymous mutations in the human dopamine receptor D2 (DRD2) affect mRNA stability and synthesis of the receptor. Hum Mol Genet 12:205-216.
12. Feighner JP, Robins E, Guze SB, Woodruff RA Jr, Winokur G, Munoz R. 1972. Diagnostic criteria for use in psychiatric research. Arch Gen Psychiatry 26:57-63.
13. Fosella J, Green AE, Fan J. 2006. Evaluation of a structural polymorphism in the ankyrin repeat and kinase domain containing 1 (ANKK1) gene and the activation of executive attention networks. Cogn Affect Behav Neurosci 6:71-78.
14. Gejman PV, Ram A, Gelernter J, Friedman E, Cao Q, Pickar D, et al. 1994. No structural mutation in the dopamine D2 receptor gene in alcoholism or schizophrenia: Analysis using denaturing gradient gel electrophoresis. JAMA 271:204-208.
15. Gelernter J, O'Malley S, Risch N, Kranzler HR, Krystal J, Merikangas K, et al. 1991. No association between an allele at the D2 dopamine receptor gene (DRD2) and alcoholism. JAMA 266:1801-1807.
16. Gelernter J, Yu Y, Weiss R, Brady K, Panhuysen C, Yang B-Z, Kranzler HR, Farrer L. 2006. Haplotype spanning TTC12 and ANKK1, flanked by the DRD2 and NCAMI loci, is strongly associated to nicotine dependence in two distinct American populations. Hum Mol Genet 15:3498-3507.
17. Goodwin DW, Schulsinger F, Hermansen L, Guze SB, Winokur G. 1973. Alcohol problems in adoptees raised apart from alcoholic biological parents. Arch Gen Psychiatry 28:238-243.
18. Grandy DK, Litt M, Allen L, Bunzow JR, Marchionni M, Makam H, et al. 1989. The human dopamine D2 receptor gene is located on chromosome 11 at q22-q23 and identifies a Taq1 RFLP. Am J Hum Genet 45:778-785.
19. Heath AC, Madden PA, Bucholz KK, Dinwiddie SH, Slutske WS, Bierut LJ, Rohrbaugh JW, Statham DJ, Dunne MP, Whitfield JB, Martin NG. 1999. Genetic differences in alcohol sensitivity and the inheritance of alcoholism risk. Psychol Med 29:1069-1081.
20. Helzer JE, Robins LN, McEvoy LT, Spitznagel EL, Stoltzman RK, Farmer A, Brockington IF. 1985. A comparison of clinical and diagnostic interview schedule diagnoses. Physician reexamination of lay-interviewed cases in the general population. Arch Gen Psychiatry 42(7):657-666.
21. Hietala J, West C, Syvalahti E, Nagren K, Lehikoinen P, Sonninen P, Ruotsalainen U. 1994. Striatal D2 dopamine receptor binding characteristics in vivo in patients with alcohol dependence. Psychopharmacology 116:285-290.
22. Hill SY, Zezza N, Wipprecht G, Locke J, Neiswanger K. 1999. Personality traits and dopamine receptors (D2 and D4): Linkage studies in families of alcoholics. Am J Med Genet Neuropsychiatr Genet 88:634-641.
23. Hill SY, Shen S, Zezza N, Hoffman EK, Perlin M, Allan W. 2004. A genome wide search for alcoholism susceptibility genes. Am J Med Genet Part B 128B:102-113.
24. Hirvonen M, Laakso A, Nagren K, Rinne JO, Pohjalinen T, Hietala J. 2004. C957T polymorphism of the dopamine D2 receptor (DRD2) gene affects striatal DRD2 availability in vivo. Mol Psychiatry 9:1060-1061.
25. Hirvonen M, Laakso A, Nagren K, Rinne JO, Pohjalinen T, Hietala J. 2005. C957T polymorphism of the dopamine D2 receptor (DRD2) gene affects striatal DRD2 availability in vivo. Mol Psychiatry 10:889.
26. Jacobsen LK, Pugh KR, Menel WE, Gelernter J. 2006. C957T polymorphisms of the dopamine D2 receptor gene modulates the effect of nictoine on working memory performance and cortical processing efficiency. Psychopharmacology 188:530-540.
27. Jönsson EG, Nöthen MM, Grünhage F, Farde L, Nakashima Y, Propping P, Sedvall GC. 1999. Polymorphisms in the dopamine D2 receptor gene and their relationships to striatal dopamine receptor density of healthy volunteers. Mol Psychiatry 4:290-296.
28. Kendler KS, Heath AC, Neale MC, Kessler RC, Eaves LJ. 1992. A population-based twin study of alcoholism in women. JAMA 268:1877-1882.
29. Kidd KK, Morar B, Castiglione CM, Zhao H, Pakstis AJ, Speed WC, Bonne-Tamir B, Lu RB, Goldman D, Lee C, Nam YS, Grandy DK, Jenkins T, Kidd JR. 1998. A global survey of haplotype frequencies and linkage disequilibrium at the DRD2 locus. Human Genet 103:211-227.
30. Konishi T, Calvillo M, Leng A-S, Lin K-M, Wan Y-JY. 2004. Polymorphisms of the dopamine D2 receptor, serotonin transporter, and GABAA receptor B3 subunit genes and alcoholism in Mexican-Americans. Alcohol 32:45-52.
31. Laine TPJ, Ahonen A, Rasanen P, Pohjalainen T, Tiihonen J, Hietala J. 2001. The A1 allele of the D2 dopamine receptor gene is associated with high dopamine transporter density in detoxified alcoholics. Alcohol Alcohol 36:262-265.
32. Lange K, Cantor R, Horvath S, Perola M, Sabatti C, Sinsheimer J, Sobel E. 2001. Mendel version 4.0: A complete package for the exact genetic analysis of discrete traits in pedigree and population data sets. Am J Hum Genet 69(Suppl.):A1886.
33. Laruelle M, Gelernter J, Innis RB. 1998. D2 receptors binding potential is not affected by TaqI polymorphism at the D2 receptor gene. Mol Psychiatry 3:261-265.
34. Lawford BR, Young RM, Rowell JA, Gibson JN, Feeney GFX, Richie TL, Sydulko K, Noble EP. 1997. Association of the D2 dopamine receptor A1 allele with alcoholism: Medical severity of alcoholism and type of controls. Biol Psychiatry 41:386-393.
35. Lawford BR, Young RM, Swagell CD, Barnes M, Burton SC, Ward W, et al. 2005. The C/C genotype of the C957T polymorphism of the dopamine D2 receptor is associated with schizophrenia. Schizophr Res 73:31-37.
36. Lerman C, Jepson C, Wileyto EP, Epstein L, Rukstalis M, Patterson F, Kaufmann V, Restine S, Hawk L, Niaura R, Berfettini W. 2006. Role of functional genetic varation in the dopamine D2 receptor (DRD2) in response to buproprion and nicotine replace therapy for tobacco dependence: Results of two randomized clinical trials. Neuropsychopharmacology 31:231-242.
37. Martin ER, Monks SA, Warren LL, Kaplan NL. 2000. A test for linkage and association in general pedigrees. Am J Hum Genet 67:146-154.
38. Martin ER, Bass MP, Kaplan NL. 2001. Correcting for potential bias in the pedigree disequilibrium test. Am J Hum Genet 68:259-266.
39. McGue M, Pickens RW, Svikis DS. 1992. Sex and age effects on the inheritance of alcohol problems: A twin study. J Abnormal Psych 101:3-17.
40. Morton NE, Mi MP. 1968. Multiplex families with two or more probands. Am J Hum Genet 20:361-367.
41. Mukhopadhyay N, Almasy L, Schroeder M, Mulvihill WP, Weeks DE. 2005. Mega2 data-handling for facilitating genetic linkage and association studies. Bioinformatics 21:2556-2557.
42. Neiswanger K, Hill SY, Kaplan BR. 1995. Association and linkage studies of the TAQI A1 allele at the dopamine D2 receptor gene in samples of female and male alcoholics. Am J Med Genet (Neuropsychiatr Genet) 60:267-271.
43. Neville MJ, Johnstone EC, Walton RT. 2004. Identification and characterization of ANK K1: A novel kinase gene closely linked to DRD2 on chromosome band 11q23.1. Hum Mutat 23:540-545.
44. Noble E. 2003. D2 dopamine receptor gene in psychiatric and neurologic disorders and its phenotypes. Am J Med Genet Part B 116B:103-125.
45. Noble EP, Blum K, Ritchie T, Montgomery A, Sheridan PJ. 1991. Allelic association of the D2 dopamine receptor gene with receptor binding characteristics in alcoholism. Arch Gen Psychiatry 48:648-654.
46. Noble EP, Syndulko K, Fitch RJ, Ritchie T, Bohlman MC, Guth P, et al. 1994. D2 dopamine receptor TaqI A alleles in medically ill alcoholic and nonalcoholic patients. Alcohol Alcohol 29:729-744.
47. O'Connell JR, Weeks DE. 1998. PedCheck: A program for identifying genotype incompatibilities in linkage analysis. Am J Hum Genet 63:259-266.
48. Perlin MW, Lancia G, Ng SK. 1995. Toward fully automated genotyping: Genotyping microsatellite markers by deconvolution. Am J Hum Genet 57:1199-1210.
49. Pickens RW, Svikis DS, McGue M, Lykken DT, Heston LL, Clayton PJ. 1991. Heterogeneity in the inheritance of alcoholism: A study of male and female twins. Arch Gen Psychiatry 48:19-28.
50. Pohjalainen T, Rinne JO, Någren K, Lehikoinen P, Anttila K, Syvalahti EKG, Hietala J. 1998. The A1 allele of the human D2 dopamine receptor gene predicts low D2 receptor availability in healthy volunteers. Mol Psychiatry 3:256-260.
51. Prescott CA. 2001. The genetic epidemiology of alcoholism: Sex differences and future directions. In: Agarwal DP, Seitz HK, editors. Alcohol in health and disease. Marcel Dekker, Inc. New York and Basel: pp 125-149.
52. SAGE, 2004. Statistical analysis for genetic epidemiology. Statistical Solutions Ltd. Cork, Ireland.
53. Seeman P. 1992. Dopamine receptor sequences. Thereapeutic levels of neuroleptics occupy D2 receptors, clozapine occupies D4. Neuropharmacology 7:261-284.
54. Smith SS, O'Hara BF, Persico AM, Gorelick DA, Newlin DB, Vlahov D, Solomon L, Pickens R, Uhl GR. 1992. Genetic vulnerability to drug abuse: The D2 dopamine receptor TaqI B1 restriction fragment length polymorphism appears more frequently in polysubtance abusers. Arch Gen Psychiatry 49:723-727.
55. Spielman RS, McGinnis RE, Ewens WJ. 1993. Transmission test for linkage disequilibrium: The insulin gene region and Insulin-dependent Diabetes Mellitus (IDDM). Am J Hum Genet 52:506-516.
56. Suarez BK, Parsian A, Hampe CL, Todd RD, Reich T, Cloninger CL. 1994. Linkage disequilibria at the D2 dopamine receptor locus (DRD2) in alcoholics and controls. Genomics 19:12-20.
57. The R Foundation for Statistical Computing Version 2.1.1, 2005.
58. Thompson J, Thomas N, Singleton A, Piggott M, Lloyd S, Perry EK, Morris CM, Perry RH, Ferrier IN, Court JA. 1997. D2 dopamine receptor gene (DRD2) TaqI A polymorphism: Reduced dopamine D2 receptor binding in the human striatum associated with the A1 allele. Pharmacogenetics 7:479-484.
59. Turner E, Ewing J, Shilling P, Smith TL, Irwin M, Schuckit M, Kelsoe JR. 1992. Lack of association between an RFLP near the D2 dopamine receptor gene and severe alcoholism. Biol Psychiatry 31:285-290.
60. Volkow ND, Fowler JS, Wang GJ, Hitzemann R, Logan J, Schlyer DJ, Dewey SL, Wolf AP. 1993. Decreased dopamine D2 receptor availability is associated with reduced frontal metabolism in cocaine abusers. Synapse 14:169-177.
61. Volkow ND, Fowler JS, Wang G-J. 2002a. Role of dopamine in drug reinforcement and addiction in humans: Results from imaging studies. Behav Pharmacol 13:355-366.
62. Volkow ND, Wang GJ, Maynard L, Fowler JS, Jayne B, Telang F, Logan J, Ding YS, Gatley SJ, Hitzemann R, Wong C, Pappas N. 2002b. Effects of alcohol detoxification on dopamine D2 receptors in alcoholics: A preliminary study. Psychiatry Res 116:163-172.
63. Volkow ND, Fowler JS, Wang G-J. 2003. The addicted human brain: Insights from imaging studies. J Clin Invest 111:1444-1451.
64. Volkow ND, Wang G-J, Begleiter H, Porjesz B, Fowler J, Telang F, Wong C, Ma Y, Logan J, Goldstein R, Alexoff D, Thanos PK. 2006. High levels of dopamine D2 receptors in unaffected members of alcoholic families. Arch Gen Psychiatry 63:999-1008.
65. Wang GJ, Volkow ND, Fowler JS, Logan J, Abumrad NN, Hitzemann RJ, Pappas NS, Pascani K. 1997. Dopamine D2 receptor availability in opiate-dependent subjects before and after naloxone-precipitated withdrawal. Neuropsychopharmacology 16:174-182.
66. Xu K, Lichtermann D, Lipsky RH, Franke P, Liu X, Hu Y, Cao L, Schwab SG, Wildenauer DB, Bau CHD, Ferro E, Astor W, Finch T, Terry J, Taubman J, Maier W, Goldman D. 2004. Association of specific haplotypes of D2 dopamine receptor gene with vulnerability to heroin dependence in 2 distinct populations. Arch Gen Psychiatry 61:597-606.