Genetic Variability in Attention Deficit Hyperactivity Disorder

Česká verze

Authors: H. Kuželová ^1,2; M. Macek Jr ¹; J. Raboch ²; R. Ptáček ²
Authors place of work: 2. LF UK v Praze, FN v Motole, Praha ¹; Psychiatrická klinika 1. LF UK a VFN v Praze ²
Published in the journal: Cesk Slov Neurol N 2014; 77/110(4): 423-427
Category: Přehledný referát

Tento článek byl podpořen výzkumnými granty IRP 610- 09- 236025- 26, IRP 610- 09-336025- 26, VPK 205003- 1, CZ.2.16/ 3.1.00/ 24022OPPK a IP 6003 FN v Motole č. 00064203.

Summary

Attention deficit hyperactivity disorder (ADHD) is a common, probably highly genetically conditioned, neurobiological disorder. Heritability of ADHD symptoms is up to about 75%. However, the mechanism is still not fully understood. Attention is focused mainly on genes of the dopaminergic and serotonergic system as well as many other genes. The paper presents a summary of the most significant genetic associations with ADHD.

Key words:
attention deficit hyperactivity disorder – genetics – gene variant

Zdroje

1. Faraone SV, Mick E. Molecular genetics of attention deficit hyperactivity disorder. Psychiatr Clin North Am 2010; 33(1):159– 180. doi: 10.1016/ j.psc.2009.12.004.

2. Biederman J, Faraone SV, Keenan K, Knee D, Tsuang MT. Family‑ genetic and psychosocial risk factors in DSM‑ III attention deficit disorder. J Am Acad Child Adolesc Psychiatry 1990; 29: 526– 533.

3. Rubino IA, Frank E, Croce Nanni R, Pozzi D, Lanza di Scalea T, Siracusano A. A comparative study of axis I antecedents before age 18 of unipolar depression, bipolar disorder and schizophrenia. Psychopathology 2009; 42(5): 325– 332. doi: 10.1159/ 000232975.

4. Zhou K, Dempfle A, Arcos‑ Burgos M, Bakker SC, Banaschewski T, Biederman J et al. Meta‑analysis of genome‑ wide linkage scans of attention deficit hyperactivity disorder. Am J Med Genet B Neuropsychiatr Genet 2008; 147B(8): 1392– 1398. doi: 10.1002/ ajmg.b.30878.

5. Loo SK, Fisher SE, Francks C, Ogdie MN, MacPhie IL, Yang M et al. Genome‑ wide scan of reading ability in affected sibling pairs with attention‑ deficit/ hyperactivity disorder: unique and shared genetic effects. Mol Psychiatry 2004; 9(5): 485– 493.

6. Mulligan A, Anney RJ, O’Regan M, Chen W, Butler L, Fitzgerald M et al. Autism symptoms in Attention‑ Deficit/ Hyperactivity Disorder: a familial trait which correlates with conduct, oppositional defiant, language and motor disorders. J Autism Dev Disord 2009; 39(2): 197– 209. doi: 10.1007/ s10803- 008- 0621- 3.

7. Fisher SE, Francks C, McCracken JT, McGough JJ, Marlow AJ, MacPhie IL et al. A genomewide scan for loci involved in attention‑ deficit/ hyperactivity disorder. Am J Hum Genet 2002; 70(5): 1183– 1196.

8. Ogdie MN, Macphie IL, Minassian SL, Yang M, Fisher SE, Francks C et al. A genomewide scan for attention‑ deficit/ hyperactivity disorder in an extended sample: suggestive linkage on 17p11. Am J Hum Genet 2003; 72(5): 1268– 1279.

9. Franke B, Neale BM, Faraone SV. Genome‑ wide association studies in ADHD. Hum Genet 2009; 126(1): 13– 50. doi: 10.1007/ s00439- 009-0663-4.

10. Mick E, Wozniak J, Wilens TE, Biederman J, Faraone SV. Family‑based association study of the BDNF, COMT and serotonin transporter genes and DSMIV bipolar‑ I disorder in children. BMC Psychiatry 2009; 9: 2. doi: 10.1186/ 1471– 244X‑ 9– 2.

11. Coolidge FL, Thede LL, Young SE. Heritability and the comorbidity of attention deficit hyperactivity disorder with behavioral disorders and executive function deficits: a preliminary investigation. Dev Neuropsychol 2000; 17(3): 273– 287.

12. Ogdie MN, Fisher SE, Yang M, Ishii J, Francks C, Loo SK et al. Attention deficit hyperactivity disorder: fine mapping supports linkage to 5p13, 6q12, 16p13, and 17p11. Am J Hum Genet 2004; 75(4): 661– 668.

13. Bakker SC, van der Meulen EM, Buitelaar JK, Sandkuijl LA, Pauls DL, Monsuur AJ et al. A whole‑ genome scan in 164 Dutch sib pairs with attentiondeficit/ hyperactivity disorder: suggestive evidence for linkage on chromosomes 7p and 15q. Am J Hum Genet 2003; 72(5): 1251– 1260.

14. Acosta MT, Arcos‑ Burgos M, Muenke M. Attention deficit/ hyperaktivity disorder (ADHD): complex phenotype, simple genotype? Genet Med 2004; 6(1): 1– 15.

15. Arcos‑ Burgos M, Castellanos FX, Pineda D, Lopera F,Palacio JD, Palacio LG et al. Attention‑ deficit/ hyperactivity disorder in a population isolate: linkage to loci at 4q13.2, 5q33.3, 11q22, and 17p11. Am J Hum Genet 2004; 75(6): 998– 1014.

16. Asherson P, Zhou K, Anney RJ, Franke B, Buitelaar J, Buitelaar J et al. A high‑density SNP linkage scan with 142 combined subtype ADHD sib pairs identifies linkage regions on chromosomes 9 and 16. Mol Psychiatry 2008; 13(5): 514– 521. doi: 10.1038/ sj.mp.4002140.

17. Zhou K, Chen W, Buitelaar J, Banaschewski T, Oades RD, Oades RD et al. Genetic heterogeneity in ADHD: DAT1 gene only affects probands without CD. Am J Med Genet B Neuropsychiatr Genet 2008; 147B(8): 1481– 1487. doi: 10.1002/ ajmg.b.30644.

18. Romanos M, Freitag C, Jacob C, Craig DW, Dempfle A, Nguyen TT et al. Genome‑ wide linkage analysis of ADHD using high‑density SNP arrays: novel loci at 5q13.1 and 14q12. Mol Psychiatry 2008; 13(5): 522– 530. doi: 10.1038/ mp.2008.12.

19. Hebebrand J, Dempfle A, Saar K, Thiele H, Herpertz‑ Dahlmann B, Linder M et al. A genomewide scan for attention‑ deficit/ hyperactivity disorder in 155 German sib‑ pairs. Mol Psychiatry 2006; 11: 196– 205.

20. Hamarman S, Fossella J, Ulger C, Brimacombe M,Dermody J. Dopamine receptor 4 (DRD4) 7- repeat allele predicts methylphenidate dose response in children with attention deficit hyperactivity disorder: a pharmacogenetic study. J Child Adolesc Psychopharmacol 2004; 14(4): 564– 574.

21. Joober R, Grizenko N, Sengupta S, Amor LB, Schmitz N, Schwartz N et al. Dopamine transporter 30– UTR VNTR genotype and ADHD: a pharmaco‑ behavioural genetic study with methylphenidate. Neuropsychopharmacology 2007; 32(6): 1370– 1376.

22. Purper‑ Ouakil D, Ramoz N, Lepagnol‑ Bestel AM, Gorwood P, Simonneau M. Neurobiology of attention deficit/ hyperactivity disorder. Pediatr Res 2011; 69(5): 69R‑ 76R. doi: 10.1203/ PDR.0b013e318212b40f.

23. Durston S, Mulder M, Casey BJ, Ziermans T, van Engeland H. Activation in ventral prefrontal cortex is sensitive to genetic vulnerability for attention‑ deficit hyperactivity disorder. Biol Psychiatry 2006; 60(10): 1062– 1070.

24. Oades RD. Dopamine‑ serotonin interactions in attention‑ deficit hyperactivity disorder (ADHD). Prog Brain Res 2008; 172: 543– 565. doi: 10.1016/ S0079– 6123(08)00926– 6.

25. Paclt I, Drtilkova I, Kopeckova M, Theiner P, Serý O,Cermakova N. The association between TaqI A polymorphism of ANKK1 (DRD2) gene and ADHD in the Czech boys aged between 6 and 13 years. Neuro Endocrinol Lett 2010; 31(1): 131– 136.

26. Gizer IR, Ficks C, Waldman ID. Candidate gene studies of ADHD: a metaanalytic review. Hum Genet 2009; 126(1): 51– 90. doi: 10.1007/ s00439- 009- 0694-x.

27. Itoi K, Sugimoto N. The brainstem noradrenergic systems in stress, anxiety and depression. J Neuroendocrinol 2010; 22(5): 355– 361. doi: 10.1007/ s00439- 009- 0694- x.

28. Moon DS, Paik JW, Cho A, Kim JW, Kim EJ, Chung JH.Association of schizophrenia and dopamine b‑ hydroxylase (DBH) polymorphism in Korean population. European Neuropsychopharmacol 2010; 20: 220– 221.

29. Muglia P, Jain U, Kennedy JL. A transmission disequilibrium test of the Ser9/ Gly dopamine D3 receptor gene polymorphism in adult attention‑ deficit hyperactivity disorder. Behav Brain Res 2002; 130(1– 2): 91– 95.

30. Zhang HB, Wang YF, Li J, Wang B, Yang L. Association between dopamine beta hydroxylase gene and attention deficit hyperactivity disorder complicated with disruptive behavior disorder. Zhonghua Er Ke Za Zhi 2005; 43(1): 26– 30.

31. Andrews GD, Lavin A. Methylphenidate increases cortical excitability via activation of alpha‑ 2 noradrenergic receptors. Neuropsychopharmacol 2006, 31(3): 594– 601.

32. Blom RM, Samuels JF, Riddle MA, Joseph Bienvenu O, Grados MA, Reti IM et al. Association between a serotonin transporter promoter polymorphism (5HTTLPR) and personality disorder traits in a community sample. J Psychiatr Res 2011; 45(9): 1153– 1159. doi: 10.1016/ j.jpsychires.2011.03.003.

33. Daly G, Hawi, Fitzgerald M, Gill M. Mapping susceptibility loci in attention deficit hyperactivity disorder: preferential transmission of parentel alleles at DAT1, DBH and DRD5 to affected children. Mol Psychiatry 1999; 4(2): 192– 196.

34. Kuzelova H, Ptacek R, Macek M. The serotonin transporter gene (5- HTT) variant and psychiatric disorders: review of current literature. Neuro Endocrinol Lett 2010; 31(1): 4– 10.

35. Smoller JW, Biederman J, Arbeitman L, Doyle AE, Fagerness J, Perlis RH et al. Association between the 5HT1B receptor gene (HTR1B) and the inattentive subtype of ADHD. Biol Psychiatry 2006; 59(5): 460– 467.

36. Roman T, Schmitz M, Polanczyk GV, Eizirik M, Rohde LA, Hutz MH. Is the alpha‑ 2A adrenergic receptor gene (ADRA2A) associated with attentiondeficit/ hyperactivity disorder? Am J Med Genet B Neuropsychiatr Genet 2003; 120B(1): 116– 120.

37. Schmitz M, Denardin D, Silva TL, Pianca T, Roman T,Hutz MH et al. Association between alpha‑ 2a‑adrenergic receptor gene and ADHD inattentive type. Biol Psychiatry 2006; 60(10): 1028– 1033.

38. Heinz A, Smolka MN. The effects of catechol O‑ methyltransferase genotype on brain activation elicited by affective stimuli and cognitive tasks. Rev Neurosci 2006; 17(3): 359– 367.

39. Nobile M, Rusconi M, Bellina M, Marino C, Giorda R,Vanzin L et al. COMT Val158Met polymorphism and socioeconomic status interact to predict attention deficit/ hyperactivity problems in children aged 10– 14. Eur Child Adolesc Psychiatry 2010; 19(7): 549– 557. doi: 10.1007/ s00787– 009– 0080– 1.

40. Kovács‑ Nagy R, Hu J, Rónai Z, Sasvári‑ Székely M. SNAP‑ 25: a novel candidate gene in psychiatric genetics. Neuropsychopharmacol Hung 2009; 11(2): 89– 94.

41. Kim JW, Biederman J, Arbeitman L, Fagerness J, Doyle AE, Petty C et al. Investigation of variation in SNAP‑ 25 and ADHD and relationship to co‑ morbid major depressive disorder. Am J Med Genet B Neuropsychiatr Genet 2007; 144B(6): 781– 790.

42. Yan T, McQuillin A, Thapar A, Asherson P, Hunt S,Stanford S et al. NK1 (TACR1) receptor gene „knockout“ mouse phenotype predicts genetic association with ADHD. J Psychopharmacol 2010; 24(1): 27– 38. doi: 10.1177/ 0269881108100255

43. Li J, Wang Y, Zhou R, Zhang H, Yang L, Wang B et al.Association between tryptophan hydroxylase gene polymorphisms and attention deficit hyperactivity disorder in Chinese Han population. Am J Med Genet B Neuropsychiatr Genet 2006; 141B(2): 126– 129.

44. Sheehan K, Lowe N, Kirley A, Mullins C, Fitzgerald M,Gill M et al. Tryptophan hydroxylase 2 (TPH2) gene variants associated with ADHD. Mol Psychiatry 2005; 10(10): 944– 949.

45. Jiang SD, He M, Qian YP, Wang DX, Zhang Y, Li Fet al. Genome‑ wide search for linkage to attention deficit hyperactivity disorder (ADHD) on the X chromosome. Yi Chuan 2006; 28(1): 26– 30.

46. Zametkin A, Rapoport JL, Murphy DL, Linnoila M, Ismond D. Treatment of hyperactive children with monoamine oxidase inhibitors. I. Clinical efficacy. Arch Gen Psychiatry 1985; 42(10): 962– 966.

47. Ptáček R, Kuželová H, Stefano G. Dopamine D4 receptor gene DRD4 and its association with psychiatric disorders. Med Sci Monit 2011; 17(9): RA215– RA220.

48. Ptáček R, Kuželová H, Stefano G. Genetics in Psychiatry – up‑ to‑ date review 2011. Neuro Endocrinol Lett 2011; 32(4): 389– 399.

49. Příhodová I, Kemlink D, Nevšímalová S. Polysomnografické nálezy u dětí s poruchou pozornosti a hyperaktivitou (ADHD) vyšetřovaných pro poruchu spánku. Cesk Slov Neurol N 2012; 75/ 108(2): 191– 196.

50. Příhodová I. Porucha spánku s rytmickými pohyby. Cesk Slov Neurol N 2012; 75/ 108(4): 415– 419.

51. Cahová P, Pejčochová J, Ošlejšková H. Hyperkinetická porucha/ „Attention Deficit Hyperactivity Disorder“ u dětských pacientů s epilepsií. Cesk Slov Neurol N 2011; 74/ 107(2): 157– 162.

52. Ptáček R, Kuželová H, Macek M Jr. Farmakogenetika ADHD. Čes a Slov Psychiatr 2010; 106(4): 226 – 229.