Is there a role for rare variants in DRD4 gene in the susceptibility for ADHD Searching for an effect of allelic heterogeneity

Molecular Psychiatry

Volumn 17, Issue 5, 2012, Pages 520-526

  Tovo Rodrigues, L ^a   Rohde, L A ^b   Roman, T ^a   Schmitz, M ^b   Polanczyk, G ^b   Zeni, C ^b   Marques, F Z C ^a   Contini, V ^a   Grevet, E H ^c   Belmonte De Abreu, P ^c   Bau, C H D ^a,b,c   Hutz, M H ^a  

^a FEDERAL UNIVERSITY OF RIO GRANDE DO SUL   (Brazil)

^b HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

^c Instituto de Psiquiatria Do Desenvolvimento Para A Infância e Adolescência   (Brazil)

Author keywords

ADHD; DRD4; rare variants; SH3 binding sites; VNTR

Indexed keywords

DOPAMINE 4 RECEPTOR;

ALLELE; ARTICLE; ATTENTION DEFICIT DISORDER; COMPUTER MODEL; CONTROLLED STUDY; DISEASE PREDISPOSITION; DNA SEQUENCE; EXON; GENE SEQUENCE; GENETIC HETEROGENEITY; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; VARIABLE NUMBER OF TANDEM REPEAT;

ADULT; ALLELES; AMINO ACID SEQUENCE; ATTENTION DEFICIT DISORDER WITH HYPERACTIVITY; BASE SEQUENCE; CHILD; EXONS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; GENOTYPE; HUMANS; MALE; MINISATELLITE REPEATS; MOLECULAR SEQUENCE DATA; RECEPTORS, DOPAMINE D4;

EID: 84860210990     PISSN: 13594184     EISSN: 14765578     Source Type: Journal    
DOI: 10.1038/mp.2011.12     Document Type: Article

References (51)

1. Polanczyk G, de Lima MS, Horta BL, Biederman J, Rohde LA. The worldwide prevalence of ADHD: a systematic review and metaregression analysis. Am J Psychiatry 2007; 164: 942-948. (Pubitemid 46972911)
2. Faraone SV, Perlis RH, Doyle AE, Smoller JW, Goralnick JJ, Holmgren MA et al. Molecular genetics of attention-deficit/hyperactivity disorder. Biol Psychiatry 2005; 57: 1313-1323. (Pubitemid 40798551)
3. Chang FM, Kidd JR, Livak KJ, Pakstis AJ, Kidd KK. The worldwide distribution of allele frequencies at the human dopamine D4 receptor locus. Hum Genet 1996; 98: 91-101. (Pubitemid 26181289)
4. Asghari V, Sanyal S, Buchwaldt S, Paterson A, Jovanovic V, Van Tol HH. Modulation of intracellular cyclic AMP levels by different human dopamine D4 receptor variants. J Neurochem 1995; 65: 1157-1165.
5. Missale C, Nash SR, Robinson SW, Jaber M, Caron MG. Dopamine receptors: from structure to function. Physiol Rev 1998; 78: 189-225. (Pubitemid 28070979)
6. Gizer IR, Ficks C, Waldman ID. Candidate gene studies of ADHD: a meta-analytic review. Hum Genet 2009; 126: 51-90.
7. Bakker SC, van der Meulen EM, Oteman N, Schelleman H, Pearson PL, Buitelaar JK et al. DAT1, DRD4, and DRD5 polymorphisms are not associated with ADHD in Dutch families. Am J Med Genet B Neuropsychiatr Genet 2005; 132B: 50-52. (Pubitemid 40066194)
8. Bhaduri N, Das M, Sinha S, Chattopadhyay A, Gangopadhyay PK, Chaudhuri K et al. Association of dopamine D4 receptor (DRD4) polymorphisms with attention deficit hyperactivity disorder in Indian population. Am J Med Genet B Neuropsychiatr Genet 2006; 141B: 61-66. (Pubitemid 43062544)
9. Carrasco X, Rothhammer P, Moraga M, Henriquez H, Aboitiz F, Rothhammer F. Presence of DRD4/7R and DAT1/10R allele in Chilean family members with attention deficit hyperactivity disorder. Rev Med Chil 2004; 132: 1047-1052.
10. 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 2000; 96: 258-261.
11. El-Faddagh M, Laucht M, Maras A, Vohringer L, Schmidt MH. Association of dopamine D4 receptor (DRD4) gene with attentiondeficit/hyperactivity disorder (ADHD) in a high-risk community sample: a longitudinal study from birth to 11 years of age. J Neural Transm 2004; 111: 883-889. (Pubitemid 38916281)
12. 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 2000; 96: 268-272.
13. 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: 523-530.
14. Leung PW, Lee CC, Hung SF, Ho TP, Tang CP, Kwong SL et al. Dopamine receptor D4 (DRD4) gene in Han Chinese children with attention-deficit/ hyperactivity disorder (ADHD): increased prevalence of the 2-repeat allele. Am J Med Genet B Neuropsychiatr Genet 2005; 133B: 54-56. (Pubitemid 40175615)
15. Loo SK, Rich EC, Ishii J, McGough J, McCracken J, Nelson S et al. Cognitive functioning in affected sibling pairs with ADHD: familial clustering and dopamine genes. J Child Psychol Psychiatry 2008; 49: 950-957.
16. Qian Q, Wang Y, Zhou R, Yang L, Faraone SV. Family-based and case-control association studies of DRD4 and DAT1 polymorphisms in Chinese attention deficit hyperactivity disorder patients suggest long repeats contribute to genetic risk for the disorder. Am J Med Genet B Neuropsychiatr Genet 2004; 128B: 84-89. (Pubitemid 38849925)
17. Roman T, Schmitz M, Polanczyk G, Eizirik M, Rohde LA, Hutz MH. Attention-deficit hyperactivity disorder: a study of association with both the dopamine transporter gene and the dopamine D4 receptor gene. Am J Med Genet 2001; 105: 471-478. (Pubitemid 32601600)
18. Ding YC, Chi HC, Grady DL, Morishima A, Kidd JR, Kidd KK et al. Evidence of positive selection acting at the human dopamine receptor D4 gene locus. Proc Natl Acad Sci USA 2002; 99: 309-314. (Pubitemid 34060359)
19. Grady DL, Chi HC, Ding YC, Smith M, Wang E, Schuck S et al. High prevalence of rare dopamine receptor D4 alleles in children diagnosed with attention-deficit hyperactivity disorder. Mol Psychiatry 2003; 8: 536-545. (Pubitemid 36829695)
20. Grady DL, Harxhi A, Smith M, Flodman P, Spence MA, Swanson JM et al. Sequence variants of the DRD4 gene in autism: further evidence that rare DRD4 7R haplotypes are ADHD specific. Am J Med Genet B Neuropsychiatr Genet 2005; 136B: 33-35. (Pubitemid 40917525)
21. Hattori E, Nakajima M, Yamada K, Iwayama Y, Toyota T, Saitou N et al. Variable number of tandem repeat polymorphisms of DRD4: re-evaluation of selection hypothesis and analysis of association with schizophrenia. Eur J Hum Genet 2009; 17: 793-801.
22. Lichter JB, Barr CL, Kennedy JL, Van Tol HH, Kidd KK, Livak KJ. A hypervariable segment in the human dopamine receptor D4 (DRD4) gene. Hum Mol Genet 1993; 2: 767-773. (Pubitemid 23197523)
23. Iyengar SK, Elston RC. The genetic basis of complex traits: rare variants or 'common gene, common disease'? Methods Mol Biol 2007; 376: 71-84. (Pubitemid 350189861)
24. Smith DJ, Lusis AJ. The allelic structure of common disease. Hum Mol Genet 2002; 11: 2455-2461. (Pubitemid 35174709)
25. Hirschhorn JN, Daly MJ. Genome-wide association studies for common diseases and complex traits. Nat Rev Genet 2005; 6: 95-108. (Pubitemid 40179532)
26. Wang E, Ding YC, Flodman P, Kidd JR, Kidd KK, Grady DL et al. The genetic architecture of selection at the human dopamine receptor D4 (DRD4) gene locus. Am J Hum Genet 2004; 74: 931-944. (Pubitemid 38568966)
27. Oldenhof J, Vickery R, Anafi M, Oak J, Ray A, Schoots O et al. SH3 binding domains in the dopamine D4 receptor. Biochemistry 1998; 37: 15726-15736. (Pubitemid 28524744)
28. Dalgarno DC, Botfield MC, Rickles RJ. SH3 domains and drug design: ligands, structure, and biological function. Biopolymers 1997; 43: 383-400.
29. Pawson T. Protein modules and signalling networks. Nature 1995; 373: 573-580.
30. Kay BK, Williamson MP, Sudol M. The importance of being proline: the interaction of proline-rich motifs in signaling proteins with their cognate domains. Faseb J 2000; 14: 231-241. (Pubitemid 30086060)
31. Grevet EH, Marques FZ, Salgado CA, Fischer AG, Kalil KL, Victor MM et al. Serotonin transporter gene polymorphism and the phenotypic heterogeneity of adult ADHD. J Neural Transm 2007; 114: 1631-1636. (Pubitemid 350212019)
32. Schmitz M, Denardin D, Laufer Silva T, Pianca T, Hutz MH, Faraone S et al. Smoking during pregnancy and attention-deficit/hyperactivity disorder, predominantly inattentive type: a casecontrol study. J Am Acad Child Adolesc Psychiatry 2006; 45: 1338-1345. (Pubitemid 44665451)
33. Santos NP, Ribeiro-Rodrigues EM, Ribeiro-Dos-Santos AK, Pereira R, Gusmao L, Amorim A et al. Assessing individual interethnic admixture and population substructure using a 48-insertiondeletion (INSEL) ancestry-informative marker (AIM) panel. Hum Mutat 2010; 31: 184-190.
34. Lahiri DK, Nurnberger JI Jr. A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies. Nucleic Acids Res 1991; 19: 5444.
35. Stephens M, Scheet P. Accounting for decay of linkage disequilibrium in haplotype inference and missing-data imputation. Am J Hum Genet 2005; 76: 449-462. (Pubitemid 40250525)
36. Stephens M, Smith NJ, Donnelly P. A new statistical method for haplotype reconstruction from population data. Am J Hum Genet 2001; 68: 978-989. (Pubitemid 32289743)
37. Jones DT. Protein secondary structure prediction based on position-specific scoring matrices. J Mol Biol 1999; 292: 195-202. (Pubitemid 29435759)
38. McGuffin LJ, Bryson K, Jones DT. The PSIPRED protein structure prediction server. Bioinformatics 2000; 16: 404-405. (Pubitemid 30417087)
39. Kelley LA, Sternberg MJ. Protein structure prediction on the Web: a case study using the Phyre server. Nat Protoc 2009; 4: 363-371.
40. Obenauer JC, Cantley LC, Yaffe MB. Scansite 2.0: proteome-wide prediction of cell signaling interactions using short sequence motifs. Nucleic Acids Res 2003; 31: 3635-3641. (Pubitemid 37442212)
41. Ferraro E, Peluso D, Via A, Ausiello G, Helmer-Citterich M. SH3-Hunter: discovery of SH3 domain interaction sites in proteins. Nucleic Acids Res 2007; 35: W451-W454.
42. Puntervoll P, Linding R, Gemund C, Chabanis-Davidson S, Mattingsdal M, Cameron S et al. ELM server: a new resource for investigating short functional sites in modular eukaryotic proteins. Nucleic Acids Res 2003; 31: 3625-3630. (Pubitemid 37448491)
43. Sela M, White Jr FH, Anfinsen CB. Reductive cleavage of disulfide bridges in ribonuclease. Science 1957; 125: 691-692.
44. Dickson SP, Wang K, Krantz I, Hakonarson H, Goldstein DB. Rare variants create synthetic genome-wide associations. PLoS Biol 2010; 8: e1000294.
45. Goldstein DB. Common genetic variation and human traits. N Engl J Med 2009; 360: 1696-1698.
46. Larsen SA, Mogensen L, Dietz R, Baagoe HJ, Andersen M, Werge T et al. Identification and characterization of tandem repeats in exon III of dopamine receptor D4 (DRD4) genes from different mammalian species. DNA Cell Biol 2005; 24: 795-804. (Pubitemid 41832103)
47. Iakoucheva LM, Brown CJ, Lawson JD, Obradovic Z, Dunker AK. Intrinsic disorder in cell-signaling and cancer-associated proteins. J Mol Biol 2002; 323: 573-584. (Pubitemid 35283681)
48. Anwar T, Khan AU. Identification of a casein kinase II phosphorylation domain in NS1 protein of H5N1 influenza virus. Bioinformation 2007; 2: 57-61.
49. Volkenstein MV. Coding of polar and non-polar amino-acids. Nature 1965; 207: 294-295.
50. Xiong H, Buckwalter BL, Shieh HM, Hecht MH. Periodicity of polar and nonpolar amino acids is the major determinant of secondary structure in self-assembling oligomeric peptides. Proc Natl Acad Sci USA 1995; 92: 6349-6353.
51. Ren S, Uversky VN, Chen Z, Dunker AK, Obradovic Z. Short linear motifs recognized by SH2, SH3 and Ser/Thr kinase domains are conserved in disordered protein regions. BMC Genomics 2008; 9: S26.