The DRD4 receptor exon 3 VNTR and 5′ SNP variants and mRNA expression in human post-mortem brain tissue

American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics

Volumn 153, Issue 6, 2010, Pages 1228-1233

  Simpson, Jennifer ^a   Vetuz, Glenn ^a   Wilson, Mathew ^a   Brookes, Keeley J ^a   Kent, Lindsey ^a  

^a UNIVERSITY OF ST ANDREWS   (United Kingdom)

Author keywords

Dopamine D4 receptor; Functional studies; Gene expression; Polymorphism

Indexed keywords

DNA; DOPAMINE 4 RECEPTOR; MESSENGER RNA;

5' UNTRANSLATED REGION; ADOLESCENT; ADULT; AGED; ALLELE; ARTICLE; BRAIN TISSUE; CADAVER; DNA EXTRACTION; EXON; FEMALE; FRONTAL CORTEX; GENE DUPLICATION; GENE EXPRESSION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HEART FAILURE; HEART INFARCTION; HUMAN; HYPERTENSION; MALE; MEDICAL RESEARCH; OPTICAL DENSITY; PRIORITY JOURNAL; SCHIZOPHRENIA; SINGLE NUCLEOTIDE POLYMORPHISM; SUDDEN DEATH; VARIABLE NUMBER OF TANDEM REPEAT;

ADOLESCENT; ADULT; AGED; AUTOPSY; BRAIN; EXONS; FEMALE; GENOTYPE; HUMANS; MALE; MIDDLE AGED; MINISATELLITE REPEATS; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, DOPAMINE D4; RNA, MESSENGER; YOUNG ADULT;

EID: 77956108614     PISSN: 15524841     EISSN: 1552485X     Source Type: Journal    
DOI: 10.1002/ajmg.b.31084     Document Type: Article

References (50)

1. Asghari V, Sanyal S, Buchwaldt S, Paterson A, Jovanovic V, Van Tol HH. 1995. Modulation of intracellular cyclic AMP levels by different human dopamine D4 receptor variants. J Neurochem 65(3):1157-1165.
2. Bahn S, Augood SJ, Ryan M, Standaert DG, Starkey M, Emson PC. 2001. Gene expression profiling in the post-mortem human brain - No cause for dismay. J Chem Neuroanat 22:79-94. (Pubitemid 32695511)
3. Barr CL, Misener VL. 2008. Dopamine system genes and ADHD. A review of the evidence. Future Neurol 3(6):705-728.
4. Barr CL, Feng Y, Wigg KG, Schachar R, Tannock R, Roberts W, Malone M, Kennedy JL. 2001. 5′-Untranslated region of the dopamine D4 receptor gene and attention-deficit hyperactivity disorder. Am J Med Genet 105(1):84-90.
5. Camarena B, Loyzaga C, Aguilar A, Weissbecker K, Nicolini H. 2007. Association study between the dopamine receptor D(4) gene and obsessive-compulsive disorder. Eur Neuropsychopharmacol 17(6-7): 406-409.
6. Castellanos FX, Lau E, Tayebi N, Lee P, Long RE, Giedd JN, Sharp W, Marsh WL, Walter JM, Hamburger SD, et al. 1998. Lack of an association between a dopamine-4 receptor polymorphism and attention-deficit/ hyperactivity disorder: Genetic and brain morphometric analyses. Mol Psychiatry 3(5):431-434.
7. Chang FM, Kidd JR, Livak KJ, Pakstis AJ, Kidd KK. 1996. The world-wide distribution of allele frequencies at the human dopamine D4 receptor locus. Hum Genet 98(1):91-101. (Pubitemid 26181289)
8. D'Souza UM, Russ C, Tahir E, Mill J, McGuffin P, Asherson PJ, Craig IW. 2004. Functional effects of a tandem duplication polymorphism in the 5' flanking region of the DRD4 gene. Biol Psychiatry 56(9):691-697.
9. De La Garza R II, Madras BK. 2000. [(3)H]PNU-10 1958, a D(4) dopamine receptor probe, accumulates in prefrontal cortex and hippocampus of non-human primate brain. Synapse 37(3):232-244.
10. Ding YC, Chi HC, Grady DL, Morishima A, Kidd JR, Kidd KK, Flodman P, Spence MA, Schuck S, Swanson JM, et al. 2002. Evidence of positive selection acting at the human dopamine receptor D4 gene locus. Proc Natl Acad Sci USA 99(1):309-314.
11. Ebstein RP, Novick O, Umansky R, Priel B, Osher Y, Blaine D, Bennett ER, Nemanov L, Katz M, Belmaker RH. 1996. Dopamine D4 receptor (D4DR) exon III polymorphism associated with the human personality trait of novelty seeking. Nat Genet 12(1):78-80.
12. Faraone SV, Doyle AE, Mick E, Biederman J. 2001. Meta-analysis of the association between the 7-repeat allele of the dopamine D(4) receptor gene and attention deficit hyperactivity disorder. Am J Psychiatry 158(7):1052-1057. (Pubitemid 32623108)
13. Franke B, Neale BM, Faraone SV. 2009. Genome-wide association studies in ADHD. Hum Genet 126(1):13-50.
14. Gervai J, Nemoda Z, Lakatos K, Ronai Z, Toth I, Ney K, Sasvari-Szekely M. 2005. Transmission disequilibrium tests confirm the link between DRD4 gene polymorphism and infant attachment. Am J Med Genet Part B 132B(1):126-130.
15. Gizer IR, Ficks C, Waldman ID. 2009. Candidate gene studies of ADHD: A meta-analytic review. Hum Genet 126(1):51-90.
16. Harrison PJ, Heath PR, Eastwood SL, Burnet PWJ, McDonald B, Pearson RCA. 1995. The relative importance of premortem acidosis and post-mortem interval for human brain gene expression studies: Selective mRNA vulnerability and comparison with their encoded proteins. Neurosci Lett 200:151-154.
17. Kereszturi E, Kiraly O, Barta C, Molnar N, Sasvari-Szekely M, Csapo Z. 2006. No direct effect of the -521 C/T polymorphism in the human dopamine D4 receptor gene promoter on transcriptional activity. BMC Mol Biol 7:18.
18. Kereszturi E, Kiraly O, Csapo Z, Tarnok Z, Gadoros J, Sasvari-Szekely M, Nemoda Z. 2007. Association between the 120-bp duplication of the dopamine D4 receptor gene and attention deficit hyperactivity disorder: Genetic and molecular analyses. Am J Med Genet Part B 144B(2): 231-236.
19. Koga M, Ishiguro H, Yazaki S, Horiuchi Y, Arai M, Niizato K, Iritani S, Itokawa M, Inada T, Iwata N, Ozaki N, Ujike H, Kunugi H, Sasaki T, Takahashi M, Watanabe Y, Someya T, Kakita A, Takahashi H, Nawa H, Muchardt C, Yaniv M, Arinami T. 2009. Involvement of SMARCA2/BRM in the SWI/SNF chromatin-remodeling complex in schizophrenia. Hum Mol Genet 18(13):2483-2494.
20. Kuhnen CM, Chiao JY. 2009. Genetic determinants of financial risk taking. PLoS One 4(2):e4362.
21. Kustanovich V, Ishii J, Crawford L, Yang M, McGough JJ, McCracken JT, Smalley SL, Nelson SF. 2004. Transmission disequilibrium testing of dopamine-related candidate gene polymorphisms in ADHD: Confirmation of association of ADHD with DRD4 and DRD5. Mol Psychiatry 9(7):711-717. (Pubitemid 38932176)
22. LaHoste GJ, Swanson JM, Wigal SB, Glabe C, Wigal T, King N, Kennedy JL. 1996. Dopamine D4 receptor gene polymorphism is associated with attention deficit hyperactivity disorder. Mol Psychiatry 1(2):121-124.
23. Lakatos K, Nemoda Z, Toth I, Ronai Z, Ney K, Sasvari- Szekely M, Gervai J. 2002. Further evidence for the role of the dopamine D4 receptor (DRD4) gene in attachment disorganization: Interaction of the exon III 48-bp repeat and the -521 C/T promoter polymorphisms. Mol Psychiatry 7(1):27-31.
24. Li T, Chen CK, Hu X, Ball D, Lin SK, Chen W, Sham PC, Loh EW, Murray RM, Collier DA. 2004. Association analysis of the DRD4 and COMT genes in methamphetamine abuse. Am J Med Genet Part B 129B(1): 120-124. (Pubitemid 38989081)
25. Lopez Leon S, Croes EA, Sayed-Tabatabaei FA, Claes S, Van Broeckhoven C, van Duijn CM. 2005. The dopamine D4 receptor gene 48-base-pair-repeat polymorphism and mood disorders: A meta-analysis. Biol Psychiatry 57(9):999-1003.
26. Lowe N, Kirley A, Mullins C, Fitzgerald M, Gill M, Hawi Z. 2004. Multiple marker analysis at the promoter region of the DRD4 gene and ADHD: Evidence of linkage and association with the SNP -616. Am J Med Genet Part B 131B(1):33-37. (Pubitemid 39458434)
27. Matsumoto M, Hidaka K, Tada S, Tasaki Y, Yamaguchi T. 1995. Full-length cDNA cloning and distribution of human dopamine D4 receptor. Brain Res Mol Brain Res 29(1):157-162.
28. McCracken JT, Smalley SL, McGough JJ, Crawford L, Del'Homme M, Cantor RM, Liu A, Nelson SF. 2000. Evidence for linkage of a tandem duplication polymorphism upstream of the dopamine D4 receptor gene (DRD4) with attention deficit hyperactivity disorder (ADHD). Mol Psychiatry 5(5):531-536.
29. McGeary J. 2009. The DRD4 exon 3 VNTR polymorphism and addiction-related phenotypes: Areview. Pharmacol Biochem Behav 93(3):222-229.
30. Meador-Woodruff JH, Damask SP, Wang J, Haroutunian V, Davis KL, Watson SJ. 1996. Dopamine receptor mRNA expression in human striatum and neocortex. Neuropsychopharmacology 15(1):17-29.
31. Mill J, Curran S, Kent L, Richards S, Gould A, Virdee V, Huckett L, Sharp J, Batten C, Fernando S, et al. 2001. Attention deficit hyperactivity disorder (ADHD) and the dopamine D4 receptor gene: Evidence of association but no linkage in a UK sample. Mol Psychiatry 6(4):440-444.
32. Mill J, Fisher N, Curran S, Richards S, Taylor E, Asherson P. 2003. Polymorphisms in the dopamine D4 receptor gene and attention-deficit hyperactivity disorder. Neuroreport 14(11):1463-1466. (Pubitemid 37083128)
33. Mitsuyasu H, Hirata N, Sakai Y, Shibata H, Takeda Y, Ninomiya H, Kawasaki H, Tashiro N, Fukumaki Y. 2001. Association analysis of polymorphisms in the upstream region of the human dopamine D4 receptor gene (DRD4) with schizophrenia and personality traits. J Hum Genet 46(1):26-31. (Pubitemid 32178921)
34. Muglia P, Tozzi F, Galwey NW, Francks C, Upmanyu R, Kong XQ, Antoniades A, Domenici E, Perry J, Rothen S, et al. (in press). Genome -wide association study of recurrent major depressive disorder in two European case-control cohorts. Mol Psychiatry. 10.1038/mp.2008.131.
35. O'Donovan MC, Craddock N, Norton N, Williams H, Peirce T, Moskvina V, Nikolov I, Hamshere M, Carroll L, Georgieva L, et al. 2008. Identifi- cation of loci associated with schizophrenia by genome-wide association and follow-up. Nat Genet 40(9):1053-1055.
36. Oak JN, Oldenhof J, Van Tol HH. 2000. The dopamine D(4) receptor: One decade of research. Eur J Pharmacol 405(1-3):303-327.
37. Okuyama Y, Ishiguro H, Toru M, Arinami T. 1999. A genetic polymorphism in the promoter region of DRD4 associated with expression and schizophrenia. Biochem Biophys Res Commun 258(2):292-295. (Pubitemid 29287044)
38. Perez de Castro I, Ibanez A, Torres P, Saiz-Ruiz J, Fernandez-Piqueras J. 1997. Genetic association study between pathological gambling and a functional DNA polymorphism at the D4 receptor gene. Pharmacogenetics 7(5):345-348.
39. Ronai Z, Guttman A, Keszler G, Sasvari-Szekely M. 2004a. Capillary electrophoresis study on DNA-protein complex formation in the polymorphic 50 upstream region of the dopamine D4 receptor (DRD4) gene. Curr Med Chem 11(8):1023-1029.
40. Ronai Z, Szantai E, Szmola R, Nemoda Z, Szekely A, Gervai J, Guttman A, Sasvari-Szekely M. 2004b. A novel A/G SNP in the -615th position of the dopamine D4 receptor promoter region as a source of misgenotyping of the -616 C/G SNP. Am J Med Genet Part B 126B(1):74-78.
41. Schinka JA, Letsch EA, Crawford FC. 2002. DRD4 and novelty seeking: Results of meta-analyses. Am J Med Genet 114(6):643-648.
42. Schoots O, Van Tol HH. 2003. The human dopamine D4 receptor repeat sequences modulate expression. Pharmacogenomics J 3(6):343-348. (Pubitemid 38072172)
43. Seaman MI, Fisher JB, Chang F, Kidd KK. 1999. Tandem duplication polymorphism upstream of the dopamine D4 receptor gene (DRD4). Am J Med Genet 88(6):705-709.
44. The Wellcome Trust Case Control Consortium. 2007. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 447(7145):661-678.
45. Todd RD, Neuman RJ, Lobos EA, Jong YJ, Reich W, Heath AC. 2001. Lack of association of dopamine D4 receptor gene polymorphisms with ADHD subtypes in a population sample of twins. Am J Med Genet 105(5):432-438. (Pubitemid 32601594)
46. Vandesompele J, De Preter K, Pattyn F, Poppe B, Van Roy N, De Paepe A, Speleman F. 2002. Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes. Genome Biol 3(7):RESEARCH0034.
47. Williams T, Tjian R. 1991. Analysis of the DNA-binding and activation properties of the human transcription factor AP-2. Genes Dev 5(4):670-682. (Pubitemid 21905986)
48. Xiang L, Szebeni K, Szebeni A, Klimek V, Stockmeier CA, Karolewicz B, Kalbfleisch J, Ordway GA. 2008. Dopamine receptor gene expression in human amygdaloid nuclei: Elevated D4 receptor mRNA in major depression. Brain Res 1207:214-224.
49. Xing QH, Wu SN, Lin ZG, Li HF, Yang JD, Feng GY, Wang MT, Yang WW, He L. 2003. Association analysis of polymorphisms in the upstream region of the human dopamine D4 receptor gene in schizophrenia. Schizophr Res 65(1):9-14.
50. Yang JW, Jang WS, Hong SD, Ji YI, Kim DH, Park J, Kim SW, Joung YS. 2008. A case-control association study of the polymorphism at the promoter region of the DRD4 gene in Korean boys with attention deficit-hyperactivity disorder: Evidence of association with the -521 C/T SNP. Prog Neuropsychopharmacol Biol Psychiatry 32(1):243-248.