Genetic Variation in Serotonin Transporter Modulates Tactile Hyperresponsiveness in ASD.

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  • Additional Information
    • Source:
      Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101300021 Publication Model: Print Cited Medium: Print ISSN: 1750-9467 (Print) NLM ISO Abbreviation: Res Autism Spectr Disord Subsets: PubMed not MEDLINE
    • Publication Information:
      Original Publication: Amsterdam : Elsevier
    • Abstract:
      Several lines of evidence implicate dysfunction of the serotonin (5-HT) system in autism spectrum disorder (ASD). Specifically, the serotonin transporter (5-HTT, SERT) has been scrutinized as an ASD candidate risk gene. SERT plays key roles in the development of circuits that underlie sensory function, particularly in the somatosensory system. One previous study in ASD found association of a rare, hyperfunctional SERT variant with sensory aversion, but studies of common SERT variants have never examined sensory symptoms in ASD. Using standardized caregiver assessments of sensory function in children, we evaluated patterns of sensory responsiveness in 47 children with ASD and 38 typically developing (TD) children. Study participants were genotyped for the functional SERT promoter polymorphisms, 5-HTTLPR and rs25531, to test the hypothesis that the higher expressing genotypes would be associated with hyperresponsiveness to touch, a common sensory aversion in ASD. All measures of sensory hypo- and hyperresponsiveness were increased in children with ASD, with hyporesponsive sensory patterns negatively correlated to age and hyperresponsive sensory patterns positively correlated to repetitive behavior. Strikingly, high-expressing SERT genotypes were associated with increased tactile hyperresponsiveness in the ASD group. Our findings indicate genetic variation that increases SERT function may specifically impact somatosensory processing in ASD.
    • References:
      Alcohol Clin Exp Res. 2005 Jan;29(1):8-16. (PMID: 15654286)
      J Autism Dev Disord. 2000 Jun;30(3):205-23. (PMID: 11055457)
      Mol Autism. 2014 Apr 24;5:29. (PMID: 24791196)
      Am J Occup Ther. 2007 Mar-Apr;61(2):190-200. (PMID: 17436841)
      Am J Hum Genet. 2005 Aug;77(2):265-79. (PMID: 15995945)
      J Autism Dev Disord. 2008 Jan;38(1):127-37. (PMID: 17415630)
      Autism Res Treat. 2013;2013:436286. (PMID: 23956859)
      J Autism Dev Disord. 2009 Jul;39(7):1087-91. (PMID: 19283461)
      J Neurochem. 1996 Jun;66(6):2621-4. (PMID: 8632190)
      Nat Rev Neurosci. 2003 Dec;4(12):1002-12. (PMID: 14618156)
      J Autism Dev Disord. 2009 Jan;39(1):1-11. (PMID: 18512135)
      Autism Res. 2012 Oct;5(5):340-51. (PMID: 22933354)
      Neuropsychopharmacology. 2008 Jan;33(2):353-60. (PMID: 17406648)
      Autism. 2009 May;13(3):215-28. (PMID: 19369385)
      Neuron. 1996 Nov;17(5):823-35. (PMID: 8938116)
      Mol Psychiatry. 2001 Jul;6(4):434-9. (PMID: 11443529)
      Res Autism Spectr Disord. 2012 Winter;6(1):337-344. (PMID: 22059092)
      J Autism Dev Disord. 1994 Oct;24(5):659-85. (PMID: 7814313)
      J Autism Dev Disord. 2009 Apr;39(4):635-42. (PMID: 19015969)
      J Autism Dev Disord. 2003 Dec;33(6):631-42. (PMID: 14714932)
      Neuroreport. 2009 Jan 28;20(2):175-9. (PMID: 19057419)
      J Am Acad Child Adolesc Psychiatry. 2004 Apr;43(4):491-9. (PMID: 15187810)
      J Autism Dev Disord. 2007 May;37(5):894-910. (PMID: 17016677)
      Autism Res. 2012 Aug;5(4):231-44. (PMID: 22447729)
      Mol Psychiatry. 2002;7(8):831-6. (PMID: 12232775)
      Curr Opin Pediatr. 1996 Aug;8(4):348-54. (PMID: 9053096)
      Neuroimage Clin. 2012 Nov 07;2:17-24. (PMID: 24179754)
      J Neurosci. 2001 Feb 1;21(3):884-96. (PMID: 11157075)
      Autism Res. 2010 Apr;3(2):78-87. (PMID: 20437603)
      J Autism Dev Disord. 2006 Jul;36(5):665-75. (PMID: 16639532)
      Biol Psychiatry. 2007 Feb 1;61(3):322-9. (PMID: 17241828)
      J Speech Lang Hear Res. 2011 Dec;54(6):1562-76. (PMID: 21862675)
      Am J Occup Ther. 2011 Mar-Apr;65(2):207-10. (PMID: 21476368)
      Arch Gen Psychiatry. 2007 Jun;64(6):709-17. (PMID: 17548752)
      Brain Cogn. 2006 Jun;61(1):5-13. (PMID: 16500009)
      J Child Psychol Psychiatry. 2005 Dec;46(12):1255-68. (PMID: 16313426)
      Autism. 2006 Sep;10(5):480-94. (PMID: 16940314)
      Am J Occup Ther. 1997 Feb;51(2):91-5. (PMID: 9124275)
      Mol Psychiatry. 2005 Dec;10(12):1110-6. (PMID: 16103890)
      Mol Psychiatry. 2004 Mar;9(3):264-71. (PMID: 15094787)
      Brain Res. 2007 Jun 18;1154:116-23. (PMID: 17498672)
      J Child Psychol Psychiatry. 2006 Jun;47(6):591-601. (PMID: 16712636)
      Nat Neurosci. 2007 Sep;10(9):1103-9. (PMID: 17726476)
      J Autism Dev Disord. 2007 May;37(5):855-66. (PMID: 17048092)
      Am J Psychiatry. 2006 Dec;163(12):2148-56. (PMID: 17151167)
      Science. 1996 Nov 29;274(5292):1527-31. (PMID: 8929413)
      Eur Neuropsychopharmacol. 2014 Jun;24(6):919-29. (PMID: 24613076)
    • Grant Information:
      UL1 TR000445 United States TR NCATS NIH HHS; U54 HD083211 United States HD NICHD NIH HHS; R01 MH094604 United States MH NIMH NIH HHS; K01 MH090232 United States MH NIMH NIH HHS; R01 MH102272 United States MH NIMH NIH HHS
    • Contributed Indexing:
      Keywords: SERT; autism spectrum disorder; sensory processing; tactile hyperresponsiveness
    • Publication Date:
      Date Created: 20150106 Latest Revision: 20200928
    • Publication Date:
      20221213
    • Accession Number:
      PMC4281265
    • Accession Number:
      10.1016/j.rasd.2014.11.008
    • Accession Number:
      25558276