Family-based association analyses of alcohol dependence phenotypes across DRD2 and neighboring gene ANKK1

Alcoholism: Clinical and Experimental Research

Volumn 31, Issue 10, 2007, Pages 1645-1653

  Dick, Danielle M ^a,b   Wang, Jen C ^b   Plunkett, Jevon ^b   Aliev, Fazil ^b   Hinrichs, Anthony ^b   Bertelsen, Sarah ^b   Budde, John P ^b   Goldstein, Elianna L ^b   Kaplan, Daniel ^b   Edenberg, Howard J ^c   Nurnberger Jr , John ^c   Hesselbrock, Victor ^d   Schuckit, Marc ^e   Kuperman, Sam ^f   Tischfield, Jay ^g   Porjesz, Bernice ^h   Begleiter, Henri ^h   Bierut, Laura Jean ^b   Goate, Alison ^b  

^a VIRGINIA COMMONWEALTH UNIVERSITY   (United States)

^b WASHINGTON UNIVERSITY   (United States)

^c INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY OF CONNECTICUT HEALTH CENTER   (United States)

^e UNIVERSITY OF CALIFORNIA   (United States)

^f UNIVERSITY OF IOWA   (United States)

^g RUTGERS UNIVERSITY   (United States)

^h SUNY DOWNSTATE MEDICAL CENTER   (United States)

Author keywords

Alcohol Dependence; ANKK1; Association Analyses; DRD2; Genetics

Indexed keywords

DOPAMINE 2 RECEPTOR;

ALCOHOL WITHDRAWAL; ALCOHOLISM; ANKK1 GENE; ARTICLE; CAUCASIAN; CONTROLLED STUDY; FAMILY ASSESSMENT; FEMALE; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; MUTATOR GENE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; PSYCHOPATHY; SIGNAL TRANSDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM;

ALCOHOLISM; DISEASE SUSCEPTIBILITY; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENE FREQUENCY; GENOTYPE; HUMANS; LINKAGE DISEQUILIBRIUM; MALE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN-SERINE-THREONINE KINASES; RECEPTORS, DOPAMINE D2; SEVERITY OF ILLNESS INDEX; SIGNAL TRANSDUCTION;

EID: 34548590486     PISSN: 01456008     EISSN: 15300277     Source Type: Journal    
DOI: 10.1111/j.1530-0277.2007.00470.x     Document Type: Article

References (69)

1. Amadeo S, Abbar M, Fourcade ML, Waksman G, Leroux MG, Madex A, Selin M, Champiat J-C, Brethome A, Leclaire Y, Castelnau D, Venisse J-L, Mallet J (1993) D2 dopamine receptor gene and alcoholism. J Psychiatr Res 27 : 173 179.
2. 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.
3. American Psychiatric Association (1994) Diagnostic and Statistical Manual of Mental Disorders. 4th ed. American Psychiatric Association, Washington, DC.
4. Begleiter H, Reich T, Hesselbrock V, Porjesz B, Li TK, Schuckit M, Edenberg HJ, Rice J (1995) The collaborative study on the genetics of alcoholism. Alcohol Health Res World 19 : 228 236.
5. Blomqvist O, Gelernter J, Kranzler HR (2000) Family-based study of DRD2 alleles in alcohol and drug dependence. Am J Med Genet B Neuropsychiatr Genet 96 : 659 664.
6. Blum K, Cull JG, Braverman ER, Comings DE (1996) Reward deficiency syndrome. Am Sci 84 : 132 145.
7. Blum K, Noble EP, Sheridan PJ, Finley O, Montgomery A, Ritchie T, Ozkaragoz T, Fitch RJ, Sadlack F, Sheffield D (1991) Association of the A1 allele of the D2 dopamine receptor gene with severe alcoholism. Arch Gen Psychiatry 48 : 409 416.
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. J Am Med Assoc 263 : 2055 2060.
9. Boehnke M (1991) Allele frequency estimation from pedigree data. Am J Hum Genet 48 : 22 25.
10. Bolos AM, Dean M, Lucase-Derse S, Ramsburg M, Brown GL, Goldman D (1990) Population and pedigree studies reveal a lack of association between the D2 receptor gene and alcoholism. JAMA 264 : 3156 3160.
11. Bucholz KK, Cadoret R, Cloninger CR, Dinwiddie SH, Hesselbrock VM, Nurnberger JI, Reich T, Schmidt I, Schuckit MA (1994) A new, semi-structured psychiatric interview for use in genetic linkage studies: a report on the reliability of the SSAGA. J Stud Alcohol 55 : 149 158.
12. Chen WJ, Chen C-H, Huang J, Hsu Y-PP, Seow S-V, Chen C-C, Cheng ATA (2001) Genetic polymorphisms of the promoter region of dopamine D2 receptor and dopamine transporter genes and alcoholism among four aboriginal groups and Han Chinese in Taiwan. Psychiatr Genet 11 : 187 195.
13. Chen C-H, Chien SH, Hwu HG (1996) Lack of association between TawI A1 allele of dopamine D2 receptor gene and alcohol-use disorders in Atayal natives of Taiwan. Am J Med Genet B Neuropsychiatr Genet 67 : 488 490.
14. Chen WJ, Lu M-L, Hsu Y-PP, Chen C-C, Yu J-M, Cheng ATA (1997) Dopamine D2 receptor gene and alcoholism among four aboriginal groups and Han in Taiwan. Am J Med Genet B Neuropsychiatr Genet 74 : 129 136.
15. Clayton D (1999) A generalization of the transmission/disequilibrium test for uncertain haplotype transmission. Am J Hum Genet 65 : 1170 1177.
16. Comings DE, Blum K (2000) Reward deficiency syndrome: genetic aspects of behavioral disorders. Prog Brain Res 126 : 325 341.
17. Comings DE, Comings BG, Muhleman D, Dietz G, Shahbahrami B, Tast D, Knell E, Kocsis P, Baumgarten R, Kovacs BW (1991) The dopamine D2 receptor locus as a modifying gene in neuropsychiatric disorders. JAMA 266 : 1793 1800.
18. Cook BL, Wang ZW, Crowe RR, Hauser R, Freimer M (1992) Alcoholism and the D2 receptor gene. Alcohol Clin Exp Res 16 : 806 809.
19. Crabbe JC, Phillips TJ (1998) Genetics of alcohol and other abused drugs. Drug Alcohol Depend 51 : 61 71.
20. Cruz C, Camarena B, Mejia JM, Paez F, Eroza V, de la Fuente JR, Kershenobich D, Nicolini H (1995) The dopamine D2 receptor gene TaqI A1 polymorphism and alcoholism in a Mexican population. Arch Med Res 26 : 421 426.
21. Edenberg HJ, Foroud T, Koller DL, Goate A, Rice J, Van Eerdewegh P, Reich T, Cloninger CR, Nurnberger JI, Kowalczuk M, Wu B, Li TK, Conneally PM, Tischfield JA, Wu W, Shears S, Crowe R, Hesselbrock V, Schuckit M, Porjesz B, Begleiter H (1998) A family-based analysis of the association of the dopamine D2 receptor (DRD2) with alcoholism. Alcohol Clin Exp Res 22 : 505 512.
22. Finckh U, Rommelspacher H, Kuhn S, Dufeu P, Otto G, Heinz A, Delttling M, Giraldo-Valasquez M, Pelz J, Graf K-J, Harms H, Sander T, Schmidt LG, Rolfs A (1997) Influence of the dopamine D2 receptor (DRD2) genotype on neuroadaptive effects of alcohol and the clinical outcome of alcoholism. Pharmacogenetics 7 : 271 281.
23. Foley PF, Loh E-W, Innes DJ, Williams SM, Tannenberg AEG, Harper CG, Dodd PR (2004) Association studies of neurotransmitter gene polymorphisms in alcoholic Caucasians. Ann N Y Acad Sci 1025 : 39 46.
24. Gelernter J, Goldman D, Risch N (1993) The A1 allele at the D2 dopamine receptor gene and alcoholism. JAMA 269 : 1673 1677.
25. Gelernter J, Kranzler HR (1999) D2 dopamine receptor gene (DRD2) allele and haplotype frequencies in alcohol dependent and control subjects: no association with phenotype or severity of phenotype. Neuropsychopharmacology 20 : 640 649.
26. Gelernter J, O'Malley S, Risch N, Kranzler HR, Krystal J, Merikangas K, Kennedy JL, Kidd KK (1991) No association between an allele at the D2 dopamine receptor gene (DRD2) and alcoholism. JAMA 266 : 1801 1807.
27. Gelernter J, Yu Y, Weiss R, Brady K, Panhuysen C, Yang BZ, Kranzler HR, Farrer L (2006) 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 : 3498 3507.
28. Goldman D, Brown GL, Albaugh B, Robin R, Goodson S, Trunzo M, Akhtar L, Lucas-Derse S, Long JC, Linnoila M, Dean M (1993) DRD2 dopamine receptor genotype, linkage disquilibrium, and alcoholism in American Indians and other populations. Alcohol Clin Exp Res 17 : 199 204.
29. Goldman D, Dean M, Brown GL, Bolos AM, Tokola R, Virkkunen M, Linnoila M (1992) D2 dopamine receptor genotype and cerebrospinal fluid homovanillic acid, 5-hydroxyindoleacetic acid and 3-methoxy-4-hydroxyphenylglycol in alcoholics in Finland and the United States. Acta Psychiatr Scand 86 : 351 357.
30. Goldman D, Urbanek M, Guenther D, Robin R, Long JC (1997) Linkage and association of a functional DRD2 variant (Ser311Cys) and DRD2 markers to alcoholism, substance abuse and schizophrenia in Southwestern American Indians. Am J Med Genet B Neuropsychiatr Genet 74 : 386 394.
31. Gorwood P, Batel P, Gouya L, Courois F, Feingold J, Ades J (2000) Reappraisal of the association between the DRD2 gene, alcoholism and addiction. Eur Psychiatry 15 : 90 96.
32. Hesselbrock M, Easton C, Bucholz KK, Schuckit M, Hesselbrock V (1999) A validity study of the SSAGA - a comparison with the SCAN. Addiction 94 : 1361 1370.
33. Hesselbrock V, Hesselbrock M (1994) Alcoholism and subtypes of antisocial personality disorder. Alcohol Alcohol 2 (Suppl 479 484.
34. Hietala J, Pohjalainen T, Heikkila-Kallio U, West C, Salaspuro M, Syvalahti E (1997) Allelic association between D2 but not D1 dopamine receptor gene and alcoholism in Finland. Psychiatr Genet 7 : 19 25.
35. Higuchi S, Muramatsu T, Murayama M, Hayashida M (1994) Association of structural polymorphism of the dopamine D2receptor gene and alcoholism. Biochem Biophys Res Commun 204 : 1199 1205.
36. Hill SY, Zezza N, Wipprecht G, Zu J, Neiswanger K (1999) Linkage studies of D2 and D4 receptor genes and alcoholism. Am J Med Genet B Neuropsychiatr Genet 88 : 676 685.
37. Ishiguro H, Arinami T, Akazawa S, Enomoto M, Mitushio H, Fujishiro H, Tada K, Akimoto Y, Mifune H, Shioduka S, Hamaguchi H, Toru M, Shibuya H (1998) Association study between the -141C Ins/Del and TaqI A polymorphisms of the dopamine D2 receptor gene and alcoholism. Alcohol Clin Exp Res 22 : 845 848.
38. Kidd KK, Morar B, Castiglione CM, Zhao H, Pakstis AJ, Speed WC, Bonne-Tamir B, Lu R-B, 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. Hum Genet 103 : 211 227.
39. Konishi T, Calvillo M, Leng A-S, Lin K-M, Wan Y-JY (2004) Polymorphisms of the dopamine D2 receptor, serotonin transporter, and GABA-A receptor B3 subunit genes and alcoholism in Mexican Americans. Alcohol 32 : 45 52.
40. Kono Y, Yoneda H, Sakai T, Nonomura Y, Inayama Y, Koh J, Sakai J, Inada Y, Imamichi H, Asaba H (1997) Association between early-onset alcoholism and the dopamine D2 receptor gene. Am J Med Genet B Neuropsychiatr Genet 74 : 179 182.
41. Lawford BR, Young RM, Rowell JA, Gibson JN, Feeney GFX, Ritchie TL, Syndulko 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.
42. Lee JF, Lu RB, Ko HC, Chang FM, Yin S-J, Pakstis AJ, Kidd KK (1999) No association between DRD2 locus and alcoholism after controlling the ADH and ALDH genotypes in Chinese Han population. Alcohol Clin Exp Res 23 : 592 599.
43. Li J, Ji L (2005) Adjusting multiple testing in multilocus analyses using the eigenvalues of a correlation matrix. Heredity 95 : 221 227.
44. Lobos EA, Todd RD (1998) Association analysis in an evolutionary context: cladistic analysis of the DRD2 locus to test for association with alcoholism. Am J Med Genet B Neuropsychiatr Genet 81 : 411 419.
45. Lu R-B, Ko HC, Chang FM, Castiglione CM, Schoolfield G, Pakstis AJ, Kidd JR, Kidd KK (1996) No association between alcoholism and multiple polymorphisms at the dopamine D2 receptor gene (DRD2) in three distinct Taiwanese populations. Biol Psychiatry 39 : 419 429.
46. Martin ER, Monks SA, Warren LL, Kaplan NL (2000) A test for linkage and association in general pedigrees: The Pedigree Disequilibrium Test. Am J Hum Genet 67 : 146 154.
47. Matsushita S, Muramatsu T, Murayama M, Nakane J, Higuchi S (2001) Alcoholism, ALDH2*2 allele and the A1 allele of the dopamine D2 receptor gene: an association study. Psychiatry Res 104 : 19 26.
48. Neiswanger K, Hill SY, Kaplan BB (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 B Neuropsychiatr Genet 60 : 267 271.
49. Neville MJ, Johnstone EC, Walton RT (2004) Identification and characterization of ANKK1: a novel kinase gene closely linked to DRD2 on chromosome band 11q23.1. Hum Mutat 23 (6 540 545.
50. Noble EP (2000a) Addiction and its reward process through polymorphisms of the D2 dopmaine receptor gene: a review. Eur Psychiatry 15 : 79 89.
51. Noble EP (2000b) The DRD2 gene in psychiatric and neurological disorders and its phenotypes. Pharmacogenetics 1 : 309 333.
52. Noble EP (2003) D2 dopamine receptor gene in psychiatric and neurologic disorders and its phenotypes. Am J Med Genet B Neuropsychiatr Genet 116 : 103 125.
53. Noble EP, Syndulko K, Fitch RJ, Ritchie T, Bohlman MC, Guth P, Sheridan PJ, Montgomery A, Heinzmann C, Sparkes RS (1994) D2 dopamine receptor TawI A alleles in medically ill alcoholic and nonalcoholic patients. Alcohol Alcohol 29 : 729 744.
54. Noble EP, Zhang X, Ritchie TL, Sparkes RS (2000) Haplotypes at the DRD2 locus and severe alcoholism. Am J Med Genet B Neuropsychiatr Genet 96 : 622 631.
55. Nyholt DR (2004) A simple correction for multiple testing for single-nucleotide polymorphisms in linkage disequilibrium with each other. Am J Hum Genet 74 : 765 769.
56. Parsian A, Cloninger CR, Zhang Z-H (2000) Functional variant in the DRD2 receptor promoter region and subtypes of alcoholism. Am J Med Genet B Neuropsychiatr Genet 96 : 407 411.
57. Parsian A, Todd RD, Devor EJ, O'Malley KL, Suarex BK, Reich T, Cloninger CR (1991) Alcoholism and alleles of the human D2 dopamine receptor locus. Arch Gen Psychiatry 48 : 655 663.
58. Ponce G, Jimenez-Arriero MA, Rubio G, Hoenicka J, Ampuero I, Ramos JA, Palomo T (2003) The A1 allele of the DRD2 gene (TaqI A polymorphisms) is associated with antisocial personality in a sample of alcohol-dependent patients. Eur Psychiatry 18 : 356 360.
59. Reich T (1996) A genomic survey of alcohol dependence and related phenotypes: results from the Collaborative Study on the Genetics of Alcoholism (COGA). Alcohol Clin Exp Res 20 (Suppl 8 133A 137A.
60. Sander T, Harms H, Podschus J, Finckh U, Nickel B, Rolfs A, Rommelspacher H, Schmidt LG (1995) Dopamine D1, D2, and D3 receptor genes in alcohol dependence. Psychiatr Genet 5 : 171 176.
61. Sander T, Ladehoff M, Samochowiec J, Finckh U, Rommelspacher H, Schmidt LG (1999) Lack of an allelic association between polymorphisms of the dopamine D2 receptor gene and alcohol dependence in the German population. Alcohol Clin Exp Res 23 : 578 581.
62. Schuckit MA, Danko GP, Smith TL, Hesselbrock V, Kramer J, Bucholz KK (2003) A 5-year prospective evaluation of DSM-IV alcohol dependence with and without a physiological component. Alcohol Clin Exp Res 27 : 818 825.
63. Schwab S, Soyka M, Niederecker M, SAckenheil M, Scherer J, Wilderauer DB (1991) Allelic association of human dopamine D2-receptor DNA polymorphism ruled out in 45 alcoholics. Am J Hum Genet 49 (Suppl 203.
64. Suarez BK, Parsian A, Hampe CL, Todd RD, Reich T, Cloninger CR (1994) Linkage disequilibria at the D2 dopmaine receptor locus (DRD2) in alcoholics and controls. Genomics 19 : 12 20.
65. Thanos PK, Taintor NB, Rivera SN, Umegaki H, Ilkari H, Roth G, Ingram DK, Hitzemann R, Fowler JS, Gatley SJ, Wang G-J, Volkow ND (2004) DRD2 gene transfer into the nucleus accumbens core of the alcohol preferring and nonpreferring rats attenuates alcohol drinking. Alcohol Clin Exp Res 28 : 720 728.
66. 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.
67. Volkow ND, Fowler JS, Wang G-J, Swanson JM (2004) Dopamine in drug abuse and addiction: results from imaging studies and treatment implications. Mol Psychiatry 9 : 557 569.
68. Waldman ID, Robinson BF, Rhee SH (1999) A logistic regression extension of the transmission disequilibrium test for continuous traits: application to linkage disequilibrium between alcoholism and the candidate genes DRD2 and ADH3. Genet Epidemiol 17 (Suppl 1 S379 S384.
69. Wise RA, Rompre P-P (1989) Brain dopamine and reward. Annu Rev Psychol 40 : 191 225.