483
Views
31
CrossRef citations to date
0
Altmetric
Research Article

Neurotransmitter systems and neurotrophic factors in autism: association study of 37 genes suggests involvement of DDC

, , , , , , , , , , , , , , , , & show all
Pages 516-527 | Received 06 Feb 2011, Accepted 22 Jun 2011, Published online: 08 Mar 2012

References

  • Abrahams BS, Geschwind DH. 2008. Advances in autism genetics: on the threshold of a new neurobiology. Nat Rev Genet 9:341–355.
  • Allen-Brady K, Miller J, Matsunami N, Stevens J, Block H, Farley M, et al. 2009. A high-density SNP genome-wide linkage scan in a large autism extended pedigree. Mol Psychiatry 14: 590–600.
  • Anderson BM, Schnetz-Boutaud NC, Bartlett J, Wotawa AM, Wright HH, Abramson RK, et al. 2009. Examination of association of genes in the serotonin system to autism. Neurogenetics 10:209–216.
  • Auranen M, Vanhala R, Varilo T, Ayers K, Kempas E, Ylisaukko-Oja T, et al. 2002. A genomewide screen for autism spectrum disorders: evidence for a major susceptibility locus on chromosome 3q25–27. Am J Hum Genet 71:777–790.
  • Barrett JC, Fry B, Maller J, Daly MJ. 2005. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21:263–265.
  • Børglum AD, Kirov G, Craddock N, Mors O, Muir W, Murray V, et al. 2003. Possible parent-of-origin effect of Dopa decarboxylase in susceptibility to bipolar affective disorder. Am J Med Genet B Neuropsychiatr Genet 117B:18–22.
  • Bourgeron T. 2009. A synaptic trek to autism. Curr Opin Neurobiol 19:231–234.
  • Burgess NK, Sweeten TL, McMahon WM, Fujinami RS. 2006. Hyperserotoninemia and altered immunity in autism. J Autism Dev Disord 36:697–704.
  • Carlson CS, Eberle MA, Rieder MJ, Yi Q, Kruglyak L, Nickerson DA. 2004. Selecting a maximally informative set of single- nucleotide polymorphisms for association analysis using linkage disequilibrium. Am J Hum Genet 74:106–120.
  • Chakrabarti B, Dudbridge F, Kent L, Wheelwright S, Hill- Cawthorne G, Allison C, et al. 2009. Genes related to sex steroids, neural growth, and social-emotional behavior are associated with autistic traits, empathy, and Asperger syndrome. Autism Res 2:157–177.
  • Chandana SR, Behen ME, Juhasz C, Muzik O, Rothermel RD, Mangner TJ, et al. 2005. Significance of abnormalities in developmental trajectory and asymmetry of cortical serotonin synthesis in autism. Int J Dev Neurosci 23:171–182.
  • Chen TJ, Blum K, Mathews D, Fisher L, Schnautz N, Braverman ER, et al. 2005. Are dopaminergic genes involved in a predisposition to pathological aggression? Hypothesizing the importance of “super normal controls” in psychiatricgenetic research of complex behavioral disorders. Med Hypotheses 65:703–707.
  • Cheng L, Ge Q, Xiao P, Sun B, Ke X, Bai Y, Lu Z. 2009. Association study between BDNF gene polymorphisms and autism by three-dimensional gel-based microarray. Int J Mol Sci 10:2487–2500.
  • Cho IH, Yoo HJ, Park M, Lee YS, Kim SA. 2007. Family-based association study of 5-HTTLPR and the 5-HT2A receptor gene polymorphisms with autism spectrum disorder in Korean trios. Brain Res 1139:34–41.
  • Connolly AM, Chez M, Streif EM, Keeling RM, Golumbek PT, Kwon JM, et al. 2006. Brain-derived neurotrophic factor and autoantibodies to neural antigens in sera of children with autistic spectrum disorders, Landau-Kleffner syndrome, and epilepsy. Biol Psychiatry 59:354–363.
  • Cook E, Leventhal B. 1996. The serotonin system in autism. A review of the evidence for involvement of the serotonin system in the aetiology of autism. Curr Opin Pediatr 8:348–354.
  • Coutinho AM, Sousa I, Martins M, Correia C, Morgadinho T, Bento C, et al. 2007. Evidence for epistasis between SLC6A4 and ITGB3 in autism etiology and in the determination of platelet serotonin levels. Hum Genet 121:243–256.
  • Croonenberghs J, Delmeire L, Verkerk R, Lin AH, Meskal A, Neels H, et al. 2000. Peripheral markers of serotonergic and noradrenergic function in post-pubertal, caucasian males with autistic disorder. Neuropsychopharmacology 22:275–283.
  • Cuscó I, Medrano A, Gener B, Vilardell M, Gallastegui F, Villa O, et al.2009. Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder. Hum Mol Genet18:1795–1804.
  • de Krom M, Staal WG, Ophoff RA, Hendriks J, Buitelaar J, Franke B, et al. 2009. A common variant in DRD3 receptor is associated with autism spectrum disorder. Biol Psychiatry 65:625–630.
  • Domínguez E, Loza MI, Padín F, Gesteira A, Paz E, Páramo M, Brenlla J, Pumar E, Iglesias F, Cibeira A, Castro M, Caruncho H, Carracedo A, Costas J. 2007. Extensive linkage disequilibrium mapping at HTR2A and DRD3 for schizophrenia susceptibility genes in the Galician population. Schizophr Res 90:123–129.
  • Dudbridge F. 2003. Pedigree disequilibrium tests for multilocus haplotypes. Genet Epidemiol 25:115–121.
  • Durand CM, Betancur C, Boeckers TM, Bockmann J, Chaste P, Fauchereau F et al. 2007. Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. Nat Genet 39:25–27.
  • Durany N, Thome J. 2004. Neurotrophic factors and the pathophy siology of schizophrenic psychoses. Eur Psychiatry 19: 326–337.
  • Fombonne E. 2009. Epidemiology of pervasive developmental disorders. Pediatr Res 65:591–598.
  • Gassó P, Mas S, Bernardo M, Alvarez S, Parellada E, Lafuente A. 2009. A common variant in DRD3 gene is associated with risperidone-induced extrapyramidal symptoms. Pharmacogenomics J 9:404–410.
  • Giegling I, Moreno-De-Luca D, Rujescu D, Schneider B, Hartmann AM, Schnabel A, et al. 2008. Dopa decarboxylase and tyrosine hydroxylase gene variants in suicidal behavior. Am J Med Genet B Neuropsychiatr Genet 147:308–315.
  • Gonzalez JR, Armengol L, Sole X, Guino E, Mercader JM, Estivill X, et al. 2007. SNPassoc: an R package to perform whole genome association studies. Bioinformatics 23:644–645.
  • Haavik J, Blau N, Thöny B. 2007. Mutations in human monoamine-related neurotransmitter pathway genes. Hum Mutat 29:891–902.
  • Hashimoto T, Bergen SE, Nguyen QL, Xu B, Monteggia LM, Pierri JN, et al. 2005. Relationship of brain-derived neurotrophic factor and its receptor TrkB to altered inhibitory prefrontal circuitry in schizophrenia. J Neurosci 25: 372–383.
  • Hettinger JA, Liu X, Schwartz CE, Michaelis RC, Holden JJ. 2008. A DRD1 haplotype is associated with risk for autism spectrum disorders in male-only affected sib-pair families. Am J Med Genet B Neuropsychiatr Genet 147B:628–636.
  • Huang CH, Santangelo SL. 2008. Autism and serotonin transporter gene polymorphisms: a systematic review and meta-analysis. Am J Med Genet B Neuropsychiatr Genet 147B: 903–913.
  • Jamain S, Quach H, Betancur C, Rastam M, Colineaux C, Gillberg IC et al. 2003. Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. Nat Genet 34:27–29.
  • Lasky-Su J, Neale BM, Franke B, Anney RJ, Zhou K, Maller JB, et al. 2008. Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations. Am J Med Genet B Neuropsychiatr Genet 147B:1345–1354.
  • Lauritsen MB, Børglum AD, Betancur C, Philippe A, Kruse TA, Leboyer M, et al. 2002. Investigation of two variants in the DOPA decarboxylase gene in patients with autism. Am J Med Genet 114:466–470.
  • Leach NT, Chudoba I, Stewart TV, Holmes LB, Weremowicz S. 2007. Maternally inherited duplication of chromosome 7, dup(7)(p11.2p12), associated with mild cognitive deficit without features of Silver-Russell syndrome. Am J Med Genet A 143A:1489–1493.
  • Lee HF, Tsai CR, Chi CS, Chang TM, Lee HJ. 2009. Aromatic L-amino acid decarboxylase deficiency in Taiwan. Eur J Paediatr Neurol 13:135–140.
  • Light KJ, Joyce PR, Luty SE, Mulder RT, Frampton CM, Joyce LR, et al. 2006. Preliminary evidence for an association between a dopamine D3 receptor gene variant and obsessive-compulsive personality disorder in patients with major depression. Am J Med Genet B Neuropsychiatr Genet 141B:409–413.
  • Lord C, Rutter M, Le Couteur A. 1994. Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. J Autism Dev Disord 24:659–685.
  • Lord C, Cook EH, Leventhal BL, Amaral DG. 2000a. Autism spectrum disorders. Neuron 28:355–363.
  • Lord C, Risi S, Lambrecht L. 2000b. The autism diagnostic observation schedule-generic: a standard measure of social and communication deficits associated with the spectrum of autism. J Autism Dev Disord 30:205–223.
  • McCauley JL, Li C, Jiang L, Olson LM, Crockett G, Gainer K, et al. 2005. Genome-wide and Ordered-Subset linkage analyses provide support for autism loci on 17q and 19p with evidence of phenotypic and interlocus genetic correlates. BMC Med Genet 6:1.
  • McDougle CJ, Erickson CA, Stigler KA, Posey DJ. 2005. Neurochemistry in the pathophysiology of autism. J Clin Psychiatry 66:9–18.
  • Miller SA, Dykes DD, Polesky HF. 1998. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215.
  • Miyazaki K, Narita N, Sakuta R, Miyahara T, Naruse H, Okado N, et al. 2004. Serum neurotrophin concentrations in autism and mental retardation: a pilot study. Brain Dev 26:292–295.
  • Nelson PG, Kuddo T, Song EY, Dambrosia JM, Kohler S, Satyanarayana G, et al. 2006. Selected neurotrophins, neuropeptides, and cytokines: developmental trajectory and concentrations in neonatal blood of children with autism or Down syndrome. Int J Dev Neurosci 24:73–80.
  • Nickl-Jockschat T, Michel TM. 2011. The role of neurotrophic factors in autism. Mol Psychiatry 16:478–90.
  • Nikolov R, Jonker J, Scahill L. 2006. Autistic disorder: current psychopharmacological treatments and areas of interest for future developments. Rev Bras Psiquiatr 28:39–46.
  • Nishimura K, Nakamura K, Anitha A, Yamada K, Tsujii M, Iwayama Y, et al. 2007. Genetic analyses of the brain-derived neurotrophic factor (BDNF) gene in autism. Biochem Biophys Res Commun 356:200–206.
  • Noor A, Whibley A, Marshall CR, Gianakopoulos PJ, Piton A, Carson AR, et al. 2010. Disruption at the PTCHD1 locus on Xp22.11 in autism spectrum disorder and intellectual disability. Sci Transl Med 2:49ra68.
  • Nunokawa A, Watanabe Y, Kaneko N, Sugai T, Yazaki S, Arinami T, et al. 2010. The dopamine D3 receptor (DRD3) gene and risk of schizophrenia: case-control studies and an updated meta-analysis. Schizophr Res 116:61–67.
  • Orabona GM, Griesi-Oliveira K, Vadasz E, Bulcão VL, Takahashi VN, Moreira ES, et al. 2008. HTR1B and HTR2C in autism spectrum disorders in Brazilian families. Brain Res 1250:14–19.
  • Otsuki K, Uchida S, Watanuki T, Wakabayashi Y, Fujimoto M, Matsubara T, et al. 2008. Altered expression of neurotrophic factors in patients with major depression. J Psychiatr Res 42:1145–1153.
  • Pardo CA, Eberhart CG. 2007. The neurobiology of autism. Brain Pathol 4:434–47.
  • Pinto D, Pagnamenta AT, Klei L, Anney R, Merico D, Regan R, et al. 2010. Functional impact of global rare copy number variation in autism spectrum disorders. Nature 466:368–372.
  • Pritchard JK, Stephens M, Donnelly P. 2000. Inference of population structure using multilocus genotype data. Genetics 155:945–959.
  • Reichardt LF. 2006. Neurotrophin-regulated signalling pathways. Phil Trans R Soc Lond B Biol Sci 361:1545–1564.
  • Ribasés M, Hervás A, Ramos-Quiroga JA, Bosch R, Bielsa A, Gastaminza X. et al. 2008. Association study of 10 genes encoding neurotrophic factors and their receptors in adult and child attention-deficit/hyperactivity disorder. Biol Psychiatry 63:935–945.
  • Ribasés M, Ramos-Quiroga JA, Hervás A, Bosch R, Bielsa A, Gastaminza X, et al. 2009. Exploration of 19 serotoninergic candidate genes in adults and children with attention-deficit/hyperactivity disorder identifies association for 5HT2A, DDC and MAOB. Mol Psychiatry 14:71–85.
  • Rommelse NN, Franke B, Geurts HM, Hartman CA, Buitelaar JK. 2010. Shared heritability of attention-deficit/hyperactivity disorder and autism spectrum disorder. Eur Child Adolesc Psychiatry 19:281–295.
  • Rumsey JM, Ernst M. 2000. Functional neuroimaging of autistic disorders. Ment Retard Dev Disabil Res Rev 6:171–179.
  • Sanchez JJ, Phillips C, Borsting C, Balogh K, Bogus M, Fondevila M, et al. 2006. A multiplex assay with 52 single nucleotide polymorphisms for human identification. Electrophoresis 27:1713–1724.
  • Seo D, Patrick CJ, Kennealy PJ. 2008. Role of serotonin and dopamine system interactions in the neurobiology of impulsive aggression and its comorbidity with other clinical disorders. Aggress Violent Behav 13:383–395.
  • Skol AD, Scott LJ, Abecasis GR, Boehnke M. 2006. Joint analysis is more efficient than replication-based analysis for two-stage genome-wide association studies. Nat Genet 38:209–213.
  • Storey J. 2002. A direct approach to false discovery rates. J R Stat Soc Ser B 64:479–498.
  • Szatmari P, Paterson AD, Zwaigenbaum L, Roberts W, Brian J, Liu XQ et al. 2007. Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet 39:319–328.
  • Taylor J, Tyekucheva S, King DC, Hardison RC, Miller W, Chiaromonte F. 2006. ESPERR: learning strong and weak signals in genomic sequence alignments to identify functional elements. Genome Res 16:1596–1604.
  • Tobler AR, Short S, Andersen MR, Paner TM, Briggs JC, Lambert SM, et al. 2005. The SNPlex genotyping system: a flexible and scalable platform for SNP genotyping. J Biomol Tech 16:398–406.
  • Vitalis T, Parnavelas JG. 2003. The role of serotonin in early cortical development. Dev Neurosci 25:245–256.
  • Wickham H. 2009. ggplot2: elegant graphics for data analysis. New York: Springer.
  • Wolpert CM, Donnelly SL, Cuccaro ML, Hedges DJ, Poole CP, Wright HH, et al. 2001. De novo partial duplication of chromosome 7p in a male with autistic disorder. Am J Med Genet 105:222–225.
  • Yonan AL, Alarcon M, Cheng R, Magnusson PK, Spence SJ, Palmer AA, et al. 2003. A genomewide screen of 345 families for autismsusceptibility loci. Am J Hum Genet 73:886–897.
  • Yoo HJ, Lee SK, Park M, Cho IH, Hyun SH, Lee JC, et al. 2009. Family- and population-based association studies of monoamine oxidase A and autism spectrum disorders in Korean. Neurosci Res 63:172–176.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.