Lack of Evidence for Association of the Serotonin Transporter Gene SLC6A4 with Autism

Nicolas Ramoz, Jennifer G. Reichert, Thomas E. Corwin, Christopher J. Smith, Jeremy M. Silverman, Eric Hollander, Joseph D. Buxbaum

Research output: Contribution to journalArticlepeer-review

43 Scopus citations


Background: The serotonin transporter (5-HTT) has long been considered likely to play a role in autism. Hyperserotonemia has been consistently found in a proportion of autistic patients, and the use of selective serotonin reuptake inhibitors (SSRIs) can have a positive effect in treating some symptoms of autism. Specific variants of the 5-HTT gene, SLC6A4, especially the insertion-deletion 5-HTTLPR promoter locus, have been found to modulate its expression and transporter function. Methods: We examined the transmission of the short or long allele of 5-HTTLPR locus to affected individuals, using a large cohort of 352 families. In addition, we screened five single nucleotide polymorphisms (SNPs) in the 5′ region of SLC6A4 previously reported to be positively associated with autism, as well as 4 additional SNPs also in the 5′ region. Results: No association of the 5-HTTLPR locus with autism was found. Furthermore, no evidence for association of any of the nine SNPs covering the SLC6A4 gene, or any of their haplotypes, was observed in our study. Using obsessive-compulsive behaviors (OCB), severe OCBs or rigid-compulsive subsets of our cohort gave the same negative results. Conclusions: SLC6A4 variants do not appear to be significantly involved in the liability to autism.

Original languageEnglish (US)
Pages (from-to)186-191
Number of pages6
JournalBiological Psychiatry
Issue number2
StatePublished - Jul 15 2006
Externally publishedYes


  • 5-HTT
  • 5-HTTLPR
  • Autistic disorder
  • haplotype
  • obsessive-compulsive behaviors
  • transmission disequilibrium test

ASJC Scopus subject areas

  • Biological Psychiatry


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