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Autism and the serotonin transporter: the long and short of it.

Autism is a neurodevelopmental disorder manifesting early in childhood. Some symptoms of autism are alleviated by treatment with selective serotonin reuptake inhibitors, which are known to interact with the serotonin transporter. Moreover, variation in the gene that encodes the transporter (SLC6A4), especially the HTTLPR locus, is known to modulate its expression. It is natural, therefore, to evaluate whether this variation plays a role in liability to autism. We investigated the impact of alleles at HTTLPR and three other loci in SLC6A4 by using a large, independent family-based sample (390 families, 1528 individuals) from the NIH Collaborative Programs of Excellence in Autism (CPEA) network. Allele transmissions to individuals diagnosed with autism were biased only for HTTLPR, both for the narrow diagnosis of autism (P=0.035) and for the broader diagnosis of autism spectrum (P=0.007). The short allele of HTTLPR was significantly overtransmitted. Investigation of haplotype transmissions suggested that, in our data, biased transmission was only due to HTTLPR. With respect to this locus, there are now seven of 12 studies reporting significant transmission bias of HTTLPR alleles, a noteworthy result in itself. However, the studies with significant findings are almost equally divided between overtransmission of short and overtransmission of long alleles. We place our results within this extremely heterogeneous field of studies. Determining the factors influencing the relationship between autism phenotypes and HTTLPR variation, as well as other loci in SLC6A4, could be an important advance in our understanding of this complex disorder.

Pubmed ID: 16103890


  • Devlin B
  • Cook EH
  • Coon H
  • Dawson G
  • Grigorenko EL
  • McMahon W
  • Minshew N
  • Pauls D
  • Smith M
  • Spence MA
  • Rodier PM
  • Stodgell C
  • Schellenberg GD
  • CPEA Genetics Network


Molecular psychiatry

Publication Data

December 28, 2005

Associated Grants

  • Agency: NCRR NIH HHS, Id: M01-RR00044
  • Agency: NCRR NIH HHS, Id: M01-RR00064
  • Agency: NIMH NIH HHS, Id: MH057881
  • Agency: NICHD NIH HHS, Id: P01 HD35476
  • Agency: NIMH NIH HHS, Id: R01 MH057881
  • Agency: NICHD NIH HHS, Id: U19 HD035465
  • Agency: NICHD NIH HHS, Id: U19 HD035466
  • Agency: NICHD NIH HHS, Id: U19 HD035469
  • Agency: NICHD NIH HHS, Id: U19 HD35482

Mesh Terms

  • Adult
  • Autistic Disorder
  • Child
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Humans
  • Linkage Disequilibrium
  • Minisatellite Repeats
  • Pedigree
  • Phenotype
  • Polymorphism, Genetic
  • Serotonin Plasma Membrane Transport Proteins