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Serotonin transporter gene polymorphisms and hyperserotonemia in autistic disorder.

Abstract : Previous studies have provided conflicting evidence regarding the association of the serotonin transporter (5-HTT) gene with autism. Two polymorphisms have been identified in the human 5-HTT gene, a VNTR in intron 2 and a functional deletion/insertion in the promoter region (5-HTTLPR) with short and long variants. Positive associations of the 5-HTTLPR polymorphism with autism have been reported by two family-based studies, but one found preferential transmission of the short allele and the other of the long allele. Two subsequent studies failed to find evidence of transmission disequilibrium at the 5-HTTLPR locus. These conflicting results could be due to heterogeneity of clinical samples with regard to serotonin (5-HT) blood levels, which have been found to be elevated in some autistic subjects. Thus, we examined the association of the 5-HTTLPR and VNTR polymorphisms of the 5-HTT gene with autism, and we investigated the relationship between 5-HTT variants and whole-blood 5-HT. The transmission/disequilibrium test (TDT) revealed no linkage disequilibrium at either loci in a sample of 96 families comprising 43 trios and 53 sib pairs. Furthermore, no significant relationship between 5-HT blood levels and 5-HTT gene polymorphisms was found. Our results suggest that the 5-HTT gene is unlikely to play a major role as a susceptibility factor in autism.
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Journal articles
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Contributor : Catalina Betancur <>
Submitted on : Monday, January 15, 2007 - 2:15:50 PM
Last modification on : Friday, February 19, 2021 - 6:04:08 PM
Long-term archiving on: : Wednesday, April 7, 2010 - 2:08:20 AM


  • HAL Id : inserm-00124375, version 1
  • PUBMED : 11803447


Catalina Betancur, Marylis Corbex, Cécile Spielewoy, Anne Philippe, Jean-Louis Laplanche, et al.. Serotonin transporter gene polymorphisms and hyperserotonemia in autistic disorder.. Molecular Psychiatry, Nature Publishing Group, 2002, 7 (1), pp.67. ⟨inserm-00124375⟩



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