Intronic polymorphisms affecting alternative splicing of human dopamine D2 receptor are associated with cocaine abuse

Neuropsychopharmacology

Volumn 36, Issue 4, 2011, Pages 753-762

  Moyer, Robert A ^a   Wang, Danxin ^a   Papp, Audrey C ^a   Smith, Ryan M ^a   Duque, Linda ^b   Mash, Deborah C ^b   Sadee, Wolfgang ^a  

^a THE OHIO STATE UNIVERSITY COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

Author keywords

alternative splicing; cocaine; D2S; dopamine; DRD2; human

Indexed keywords

DOPAMINE 2 RECEPTOR;

AFRICAN AMERICAN; ALLELISM; ALTERNATIVE RNA SPLICING; ARTICLE; AUTOPSY; CAUCASIAN; COCAINE DEPENDENCE; CONTROLLED STUDY; GENE LINKAGE DISEQUILIBRIUM; GENETIC SUSCEPTIBILITY; GENOTYPE; HUMAN; HUMAN CELL; HUMAN TISSUE; INTRON; PREFRONTAL CORTEX; PRIORITY JOURNAL; PUTAMEN; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; ALTERNATIVE SPLICING; BRAIN; COCAINE-RELATED DISORDERS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HEK293 CELLS; HUMANS; INTRONS; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, DOPAMINE D2; YOUNG ADULT;

EID: 79951510133     PISSN: 0893133X     EISSN: None     Source Type: Journal    
DOI: 10.1038/npp.2010.208     Document Type: Article

References (53)

1. 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. (Pubitemid 27142107)
2. Bertolino A, Fazio L, Di Giorgio A, Blasi G, Romano R, Taurisano P et al (2009a). Genetically determined interaction between the dopamine transporter and the D-2 receptor on prefronto-striatal activity and volume in humans. J Neurosci 29: 1224-1234.
3. Bertolino A, Fazio L, Caforio G, Blasi G, Rampino A, Romano R et al (2009b). Functional variants of the dopamine receptor D2 gene modulate prefronto-striatal phenotypes in schizophrenia. Brain 132: 417-425.
4. Bertolino A, Taurisano P, Pisciotta NM, Blasi G, Fazio L, Romano R et al (2010). Genetically determined measures of striatal D2 signaling predict prefrontal activity during working memory performance. Plos One 5(2): e9348.
5. Blasi G, Lo Bianco L, Taurisano P, Gelao B, Romano R, Fazio L et al (2009). Functional variation of the dopamine D-2 receptor gene is associated with emotional control as well as brain activity and connectivity during emotion processing in humans. J Neurosci 29: 14812-14819.
6. Civelli O, Bunzow JR, Grandy DK (1993). Molecular diversity of the dopamine receptors. Ann Rev Pharmacol Toxicol 33: 281-307. (Pubitemid 23116009)
7. Doehring A, von Hentig N, Graff J, Salamat S, Schmidt M, Geisslinger G et al (2009). Genetic variants altering dopamine D2 receptor expression or function modulate the risk of opiate addiction and the dosage requirements of methadone substitution. Pharmacogenetics Genomics 19: 407-414.
8. Duan JB, Wainwright MS, Comeron JM, Saitou N, Sanders AR, Gelernter J et al (2003). Synonymous mutations in the human dopamine receptor D2 (DRD2) affect mRNA stability and synthesis of the receptor. Hum Mol Genet 12: 205-216. (Pubitemid 36204418)
9. Frank MJ, Hutchison K (2009). Genetic contributions to avoidance-based decisions: striatal D2 receptor polymorphisms. Neuroscience 164: 131-140.
10. Frazer KA, Ballinger DG, Cox DR, Hinds DA, Stuve LL, Gibbs RA et al (2007). A second generation human haplotype map of over 3.1 million SNPs. Nature 449: 851-U853.
11. Giordano TP, Satpute SS, Striessnig J, Kosofsky BE, Rajadhyaksha AM (2006). Up-regulation of dopamine D2L mRNA levels in the ventral tegmental area and dorsal striatum of amphetamine-sensitized C57BL/6 mice: role of Ca(v)1.3 L-type Ca2+ channels. J Neurochem 99: 1197-1206. (Pubitemid 44655285)
12. Glatt SJ, Faraone SV, Lasky-Su JA, Kanazawa T, Hwu HG, Tsuang MT (2009). Family-based association testing strongly implicates DRD2 as a risk gene for schizophrenia in Han Chinese from Taiwan. Mol Psychiatry 14: 885-893.
13. Gosso MF, de Geus EJC, Polderman TJC, Boomsma DI, Heutink P, Posthuma D (2008). Catechol O-methyl transferase and dopa-mine D2 receptor gene polymorphisms: evidence of positive heterosis and gene-gene interaction on working memory functioning. Eur J Hum Genet 16: 1075-1082.
14. Haliassos A, Chomel JC, Grandjouan S, Kruh J, Kaplan JC, Kitzis A (1989a). Detection of minority point mutations by modified PCR techniqueFa new approach for a sensitive diagnosis of tumor-progression markers. Nucleic Acids Res 17: 8093-8099. (Pubitemid 19267165)
15. Haliassos A, Chomel JC, Tesson L, Baudis M, Kruh J, Kaplan JC et al (1989b). Modification of enzymatically amplified DNA for the detection of point mutations. Nucleic Acids Res 17: 3606-3606.
16. Herzberg I, Valencia-Duarte AV, Kay VA, White DJ, Muller H, Rivas IC et al (2010). Association of DRD2 variants and Gilles de la Tourette syndrome in a family-based sample from a South American population isolate. Psychiatr Genet 20: 179-183.
17. Huang WH, Payne TJ, Ma JZ, Beuten J, Dupont RT, Inohara N et al (2009). Significant association of ANKK1 and detection of a functional polymorphism with nicotine dependence in an African-American sample. Neuropsychopharmacology 34: 319-330.
18. Hwang R, Shinkai T, De Luca V, Muller DJ, Ni XQ, Macciardi F et al (2005). Association study of 12 polymorphisms spanning the dopamine D-2 receptor gene and clozapine treatment response in two treatment refractory/intolerant populations. Psychopharmacology 181: 179-187. (Pubitemid 41440929)
19. Hwang R, Shinkai T, Deluca V, Macciardi F, Potkin S, Meltzer HY et al (2006). Dopamine D2 receptor gene variants and quantitative measures of positive and negative symptom response following clozapine treatment. Eur Neuropsychophar-macol 16: 248-259.
20. Hyman SE, Malenka RC, Nestler EJ (2006). Neural mechanisms of addiction: the role of reward-related learning and memory. Ann Rev Neurosci 29: 565-598. (Pubitemid 44476856)
21. Ishiguro H, Arinami T, Saito T, Akazawa S, Enomoto M, Mitushio H et al (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. (Pubitemid 28292468)
22. Jiang XY, Zhou J, Mash DC, Marini AM, Lipsky RH (2009). Human BDNF isoforms are differentially expressed in cocaine addicts and are sorted to the regulated secretory pathway independent of the Met66 substitution. Neuromol Med 11: 1-12.
23. Johnson AD, Wang DX, Sadee W (2005). Polymorphisms affecting gene regulation and mRNA processing: broad implications for pharmacogenetics. Pharmacol Ther 106: 19-38. (Pubitemid 40392460)
24. Johnson AD, Handsaker RE, Pulit SL, Nizzari MM, O'Donnell CJ, de Bakker PIW (2008). SNAP: a web-based tool for identification and annotation of proxy SNPs using HapMap. Bioinformatics 24: 2938-2939.
25. Khan ZU, Mrzljak L, Gutierrez A, de la Calle A, Goldman-Rakic PS (1998). Prominence of the dopamine D2 short isoform in dopaminergic pathways. Proc Natl Acad Sci USA 95: 7731-7736. (Pubitemid 28293322)
26. Kollins SH, Anastopoulos AD, Lachiewicz AM, FitzGerald D, Morrissey-Kane E, Garrett ME et al (2008). SNPs in dopamine D2 receptor gene (DRD2) and norepinephrine transporter gene (NET) are associated with continuous performance task (CPT) phenotypes in ADHD children and their families. Am J Med Genet BNeuropsychiatr Genet 147B: 1580-1588.
27. Lawford BR, Young RM, Swagell CD, Barnes M, Burton SC, Ward WK 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. (Pubitemid 39574676)
28. Le Foll B, Gallo A, Le Strat Y, Lu L, Gorwood P (2009). Genetics of dopamine receptors and drug addiction: a comprehensive review. Behav Pharmacol 20: 1-17.
29. Lerman C, Jepson C, Wileyto EP, Epstein LH, Rukstalis M, Patterson F et al (2006). 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: 231-242. (Pubitemid 43250960)
30. Lucht M, Samochowiec A, Samochowiec J, Jasiewicz A, Grabe HJ, Geissler I et al (2010). Influence of DRD2 and ANKK1 genotypes on apomorphine-induced growth hormone (GH) response in alcohol-dependent patients. Prog Neuro-Psychopharmacol Biol Psychiatry 34: 45-49.
31. Lull ME, Freeman WM, Vrana KE, Mash DC (2008). Correlating human and animal studies of cocaine abuse and gene expression. Addiction Rev 1141: 58-75.
32. Munafo MR, Clark TG, Johnstone EC, Murphy MFG, Walton RT (2004). The genetic basis for smoking behavior: a systematic review and meta-analysis. Nicotine Tobacco Res 6: 583-597. (Pubitemid 39248145)
33. Munafo MR, Matheson IJ, Flint J (2007). Association of the DRD2 gene Taq1A polymorphism and alcoholism: a meta-analysis of case-control studies and evidence of publication bias. Mol Psychiatry 12: 454-461. (Pubitemid 46652456)
34. Papp AC, Pinsonneault JK, Cooke G, Sadee W (2003). Single nucleotide polymorphism genotyping using allele-specific PCR and fluorescence melting curves. Biotechniques 34: 1068-1072. (Pubitemid 36554575)
35. Pinsonneault JK, Papp AC, Sadee W (2006). Allelic mRNA expression of X-linked monoamine oxidase a (MAOA) in human brain: dissection of epigenetic and genetic factors. Hum Mol Genet 15: 2636-2649. (Pubitemid 44288692)
36. Preuss UW, Zill P, Koller G, Bondy B, Soyka M (2007). D2 dopamine receptor gene haplotypes and their influence on alcohol and tobacco consumption magnitude in alcohol-dependent individuals. Alcohol Alcohol 42: 258-266. (Pubitemid 47072543)
37. Rockman MV, Wray GA (2002). Abundant raw material for cis-regulatory evolution in humans. Mol Biol Evol 19: 1991-2004. (Pubitemid 35388122)
38. Sasabe T, Furukawa A, Matsusita S, Higuchi S, Ishiura S (2007). Association analysis of the dopamine receptor D2 (DRD2) SNP rs1076560 in alcoholic patients. Neurosci Lett 412: 139-142. (Pubitemid 46074350)
39. Seamans JK, Yang CR (2004). The principal features and mechanisms of dopamine modulation in the prefrontal cortex. Prog Neurobiol 74: 1-57. (Pubitemid 39286053)
40. Smith JW, Fetsko LA, Xu R, Wang Y (2002). Dopamine D2L receptor knockout mice display deficits in positive and negative reinforcing properties of morphine and in avoidance learning. Neuroscience 113: 755-765. (Pubitemid 35245246)
41. Strange PG (1993). New insights into dopamine-receptors in the central nervous system. Neurochem Int 22: 223-236.
42. Thelma BK, Srivastava V, Tiwari AK (2008). Genetic underpinnings of tardive dyskinesia: passing the baton to pharmaco-genetics. Pharmacogenomics 9: 1285-1306.
43. Usiello A, Baik JH, Rouge-Pont F, Picetti R, Dierich A, LeMeur M et al (2000). Distinct functions of the two isoforms of dopamine D-2 receptors. Nature 408: 199-203.
44. Voisey J, Swagell CD, Hughes IP, Alorris CP, van Daal A, Noble EP et al (2009). The DRD2 gene 957C4T polymorphism is associated with posttraumatic stress disorder in war veterans. Depress Anxiety 26: 28-33.
45. Volkow ND, Fowler JS, Wang GJ, Hitzemann R, Logan J, Schlyer DJ et al (1993). Decreased dopamine-D2 receptor availability is associated with reduced frontal metabolism in cocaine abusers. Synapse 14: 169-177. (Pubitemid 23157765)
46. Wang D, Papp AC, Binkley PF, Johnson JA, Sadee W (2006). Highly variable mRNA expression and splicing of L-type voltage-dependent calcium channel alpha subunit 1C in human heart tissues. Pharmacogenetics Genomics 16: 735-745. (Pubitemid 44454868)
47. Wang YY, Xu R, Sasaoka T, Tonegawa S, Kung MP, Sankoorikal EB (2000). Dopamine D2 long receptor-deficient mice display alterations in striatum-dependent functions. J Neurosci 20: 8305-8314.
48. Wray GA (2007). The evolutionary significance of cis-regulatory mutations. Nat Rev Genet 8: 206-216.
49. Xu R, Hranilovic D, Fetsko LA, Bucan M, Wang Y (2002). Dopamine D2S and D2L receptors may differentially contribute to the actions of antipsychotic and psychotic agents in mice. Mol Psychiatry 7: 1075-1082. (Pubitemid 36044266)
50. Zai CC, Hwang RW, De Luca V, Muller DJ, King N, Zai GC et al (2007). Association study of tardive dyskinesia and twelve DRD2 polymorphisms in schizophrenia patients. Int J Neuropsycho-pharmacol 10: 639-651. (Pubitemid 47517514)
51. Zhang JP, Lencz T, Malhotra AK (2010). D-2 receptor genetic variation and clinical response to antipsychotic drug treatment: a meta-analysis. Am J Psychiatry 167: 763-772.
52. Zhang Y, Bertolino A, Fazio L, Blasi G, Rampino A, Romano R et al (2007). Polymorphisms in human dopamine D2 receptor gene affect gene expression, splicing, and neuronal activity during working memory. Proc Natl Acad Sci USA 104: 20552-20557.
53. Zhang Y, Wang DX, Johnson AD, Papp AC, Sadee W (2005). Allelic expression imbalance of human mu opioid receptor (OPRM1) caused by variant A118G. J Biol Chem 280: 32618-32624. (Pubitemid 41368304)