DRD4 rare variants in attention-deficit/hyperactivity disorder (ADHD): Further evidence from a birth cohort study

PLoS ONE

Volumn 8, Issue 12, 2013, Pages

  Tovo Rodrigues, Luciana ^a   Rohde, Luis A ^a,b   Menezes, Ana M B ^c   Polanczyk, Guilherme V ^b,d   Kieling, Christian ^a   Genro, Julia P ^a   Anselmi, Luciana ^a,b   Hutz, Mara H ^a  

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

^b National Institute of Developmental Psychiatry for Children and Adolescents (INCT CNPq)   (Brazil)

^c FEDERAL UNIVERSITY OF PELOTAS   (Brazil)

^d UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ATTENTION DEFICIT DISORDER WITH HYPERACTIVITY; BASE SEQUENCE; BRAZIL; CHILD; COHORT STUDIES; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; HAPLOTYPES; HUMANS; LOGISTIC MODELS; MINISATELLITE REPEATS; MOLECULAR SEQUENCE DATA; ODDS RATIO; QUESTIONNAIRES; RECEPTORS, DOPAMINE D4; SEQUENCE ANALYSIS, DNA;

EID: 84894068787     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0085164     Document Type: Article

References (40)

1. King RA (1997) Practice parameters for the psychiatric assessment of children and adolescents. American Academy of Child and Adolescent Psychiatry. J Am Acad Child Adolesc Psychiatry 36: 4S-20S.
2. Faraone SV, Perlis RH, Doyle AE, Smoller JW, Goralnick JJ et al. (2005) Molecular genetics of attention-deficit/hyperactivity disorder. Biol Psychiatry 57: 1313-1323. doi:10.1016/j.biopsych.2004.11.024. PubMed: 15950004. (Pubitemid 40798551)
3. Polanczyk G, de Lima MS, Horta BL, Biederman J, Rohde LA (2007) The worldwide prevalence of ADHD: a systematic review and metaregression analysis. Am J Psychiatry 164: 942-948. doi:10.1176/appi.ajp.164.6.942. PubMed: 17541055. (Pubitemid 46972911)
4. Gizer IR, Ficks C, Waldman ID (2009) Candidate gene studies of ADHD: a meta-analytic review. Hum Genet 126: 51-90. doi:10.1007/s00439-009-0694-x. PubMed: 19506906.
5. Chang FM, Kidd JR, Livak KJ, Pakstis AJ, Kidd KK (1996) The worldwide distribution of allele frequencies at the human dopamine D4 receptor locus. Hum Genet 98: 91-101. doi:10.1007/s004390050166. PubMed: 8682515. (Pubitemid 26181289)
6. Woods AS (2010) The dopamine D(4) receptor, the ultimate disordered protein. J Recept Signal Transduct Res 30: 331-336. doi:10.3109/10799893.2010. 513842. PubMed: 20836733.
7. Rechsteiner M, Rogers SW (1996) PEST sequences and regulation by proteolysis. Trends Biochem Sci 21: 267-271. doi:10.1016/0968-0004(96)10031-1. PubMed: 8755249. (Pubitemid 26228278)
8. Ferguson SS, Barak LS, Zhang J, Caron MG (1996) G-protein-coupled receptor regulation: role of G-protein-coupled receptor kinases and arrestins. Can J Physiol Pharmacol 74: 1095-1110. doi:10.1139/y96-124. PubMed: 9022829. (Pubitemid 27047505)
9. Ciruela F, Burgueño J, Casadó V, Canals M, Marcellino D et al. (2004) Combining mass spectrometry and pull-down techniques for the study of receptor heteromerization. Direct epitope-epitope electrostatic interactions between adenosine A2A and dopamine D2 receptors. Anal Chem 76: 5354-5363. doi:10.1021/ac049295f. PubMed: 15362892. (Pubitemid 39249416)
10. Oldenhof J, Vickery R, Anafi M, Oak J, Ray A et al. (1998) SH3 binding domains in the dopamine D4 receptor. Biochemistry 37: 15726-15736. doi:10.1021/bi981634+ PubMed: 9843378 (Pubitemid 28524744)
11. Dalgarno DC, Botfield MC, Rickles RJ (1997) SH3 domains and drug design: ligands, structure, and biological function. Biopolymers 43: 383-400. doi:10.1002/(SICI)1097-0282(1997)43:5. PubMed: 9566119.
12. Ding YC, Chi HC, Grady DL, Morishima A, Kidd JR et al. (2002) Evidence of positive selection acting at the human dopamine receptor D4 gene locus. Proc Natl Acad Sci U S A 99: 309-314. doi:10.1073/pnas.012464099. PubMed: 11756666. (Pubitemid 34060359)
13. Grady DL, Chi HC, Ding YC, Smith M, Wang E et al. (2003) High prevalence of rare dopamine receptor D4 alleles in children diagnosed with attention-deficit hyperactivity disorder. Mol Psychiatry 8: 536-545. doi:10.1038/sj.mp.4001350. PubMed: 12808433. (Pubitemid 36829695)
14. Grady DL, Harxhi A, Smith M, Flodman P, Spence MA et al. (2005) 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 136B: 33-35. doi:10.1002/ajmg.b.30182. PubMed: 15892149. (Pubitemid 40917525)
15. Lichter JB, Barr CL, Kennedy JL, Van Tol HH, Kidd KK, et al. (1993) A hypervariable segment in the human dopamine receptor D4 (DRD4) gene. Hum Mol Genet 2: 767-773 (Pubitemid 23197523)
16. Tovo-Rodrigues L, Rohde LA, Roman T, Schmitz M, Polanczyk G et al. (2012) Is there a role for rare variants in DRD4 gene in the susceptibility for ADHD? Searching for an effect of allelic heterogeneity. Mol Psychiatry 17: 520-526. PubMed: 21403674.
17. Manolio TA (2009) Cohort studies and the genetics of complex disease. Nat Genet 41: 5-6. doi:10.1038/ng0109-5. PubMed: 19112455.
18. Manolio TA, Bailey-Wilson JE, Collins FS (2006) Genes, environment and the value of prospective cohort studies. Nat Rev Genet 7: 812-820. doi:10.1038/nrg1919. PubMed: 16983377. (Pubitemid 44413225)
19. Goodman SH, Lahey BB, Fielding B, Dulcan M, Narrow W et al. (1997) Representativeness of clinical samples of youths with mental disorders: a preliminary population-based study. J Abnorm Psychol 106: 3-14. doi:10.1037/0021-843X.106.1.3. PubMed: 9103713. (Pubitemid 27063187)
20. Bidwell LC, Willcutt EG, McQueen MB, DeFries JC, Olson RK et al. (2011) A family based association study of DRD4, DAT1, and 5HTT and continuous traits of attention-deficit hyperactivity disorder. Behav Genet 41: 165-174. doi:10.1007/s10519-010-9437-y. PubMed: 21207241.
21. Dickson SP, Wang K, Krantz I, Hakonarson H, Goldstein DB (2010) Rare variants create synthetic genome-wide associations. PLoS Biol 8: e1000294. PubMed: 20126254.
22. Bodmer W, Bonilla C (2008) Common and rare variants in multifactorial susceptibility to common diseases. Nat Genet 40: 695-701. doi: 10.1038/ng.f.136. PubMed: 18509313. (Pubitemid 351748875)
23. Williams NM, Zaharieva I, Martin A, Langley K, Mantripragada K et al. (2010) Rare chromosomal deletions and duplications in attention-deficit hyperactivity disorder: a genome-wide analysis. Lancet 376: 1401-1408. doi:10.1016/S0140-6736(10)61109-9. PubMed: 20888040.
24. Hu Y, Liu Y, Jung J, Dunker AK, Wang Y (2011) Changes in predicted protein disorder tendency may contribute to disease risk. BMC Genomics 12 Suppl 5: S2. doi:10.1186/1471-2164-12-S1-S2. PubMed: 22369681.
25. Vacic V, Iakoucheva LM (2012) Disease mutations in disordered regions - exception to the rule? Mol Biosyst 8: 27-32. doi:10.1039/c1mb05251a. PubMed: 22080206.
26. Nöthen MM, Cichon S, Hemmer S, Hebebrand J, Remschmidt H et al. (1994) Human dopamine D4 receptor gene: frequent occurrence of a null allele and observation of homozygosity. Hum Mol Genet 3: 2207-2212. doi:10.1093/hmg/3.12. 2207. PubMed: 7881421.
27. Pena SD, Di Pietro G, Fuchshuber-Moraes M, Genro JP, Hutz MH et al. (2011) The genomic ancestry of individuals from different geographical regions of Brazil is more uniform than expected. PLOS ONE 6: e17063. doi:10.1371/journal.pone.0017063. PubMed: 21359226.
28. Santos NP, Ribeiro-Rodrigues EM, Ribeiro-Dos-Santos AK, Pereira R, Gusmão L et al. (2010) Assessing individual interethnic admixture and population substructure using a 48-insertion-deletion (INSEL) ancestry-informative marker (AIM) panel. Hum Mutat 31: 184-190. doi:10.1002/humu.21159. PubMed: 19953531.
29. Victora CG, Barros FC, Halpern R, Menezes AM, Horta BL et al. (1996) Longitudinal study of the mother and child population in an urban region of southern Brazil, 1993: methodological aspects and preliminary results. Rev Saude Publica 30: 34-45. doi:10.1590/S0034-89101996000100005. PubMed: 9008920. (Pubitemid 126451358)
30. Victora CG, Hallal PC, Araújo CL, Menezes AM, Wells JC et al. (2008) Cohort profile: the 1993 Pelotas (Brazil) birth cohort study. Int J Epidemiol 37: 704-709. doi:10.1093/ije/dym177. PubMed: 17846051.
31. Goodman R (1997) The Strengths and Difficulties Questionnaire: a research note. J Child Psychol Psychiatry 38: 581-586. doi:10.1111/j. 1469-7610.1997.tb01545.x. PubMed: 9255702.
32. Becker A, Steinhausen HC, Baldursson G, Dalsgaard S, Lorenzo MJ et al. (2006) Psychopathological screening of children with ADHD: Strengths and Difficulties Questionnaire in a pan-European study. Eur Child Adolesc Psychiatry 15 Suppl 1: I56-I62. doi:10.1007/s00787-006-1008-7. PubMed: 17177017.
33. Goodman R, Ford T, Simmons H, Gatward R, Meltzer H (2003) Using the Strengths and Difficulties Questionnaire (SDQ) to screen for child psychiatric disorders in a community sample. Int Rev Psychiatry 15: 166-172. doi:10.1080/0954026021000046128. PubMed: 12745328. (Pubitemid 36363543)
34. Rohde LA, BJ, Knijnik M, Ketzer C, Chachamovich E, Vieira GM, Pinzon V (1999) Exploring different information sources for DSM-1V ADHD diagnoses in Brazilian adolescents. Journal of Attention Disorders 3: 91-96. doi:10.1177/108705479900300203.
35. Stephens M, Donnelly P (2003) A comparison of bayesian methods for haplotype reconstruction from population genotype data. Am J Hum Genet 73: 1162-1169. doi:10.1086/379378. PubMed: 14574645. (Pubitemid 37414228)
36. Jones DT (2007) Improving the accuracy of transmembrane protein topology prediction using evolutionary information. Bioinformatics 23: 538-544. doi:10.1093/bioinformatics/btl677. PubMed: 17237066.
37. Li X, Romero P, Rani M, Dunker AK, Obradovic Z (1999) Predicting Protein Disorder for N-, C-, and Internal Regions. Genome Inform Ser Workshop Genome Inform 10: 30-40. PubMed: 11072340.
38. Blom N, Gammeltoft S, Brunak S (1999) Sequence and structure-based prediction of eukaryotic protein phosphorylation sites. J Mol Biol 294: 1351-1362. doi:10.1006/jmbi.1999.3310. PubMed: 10600390. (Pubitemid 30008805)
39. Dinkel H, Michael S, Weatheritt RJ, Davey NE, Van Roey K et al. (2012) ELM - the database of eukaryotic linear motifs. Nucleic Acids Res 40: D242-D251. doi:10.1093/nar/gks559. PubMed: 22110040.
40. Anselmi L, Menezes AM, Barros FC, Hallal PC, Araújo CL et al. (2010) Early determinants of attention and hyperactivity problems in adolescents: the 11-year follow-up of the 1993 Pelotas (Brazil) birth cohort study. Cad Saude Publica 26: 1954-1962. doi:10.1590/S0102-311X2010001000012. PubMed: 20963293.