Evidence for an association with the serotonin transporter promoter region polymorphism and autism

Nurit Yirmiya, Tammy Pilowsky, Lubov Nemanov, Shoshana Arbelle, Temira Feinsilver, Iris Fried, Richard P. Ebstein*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

135 Scopus citations


We have examined three functional polymorphisms, serotonin transporter promoter region polymorphism (5-HTTLPR), dopamine D4 exon III repeat region (DRD4), and catechol-O-methyltransferase (COMT), in a small family-based design toward identifying candidate genes that confer risk for autism. A significant excess of the long/long 5-HTTLPR genotype was observed (likelihood ratio = 7.18; P = 0.027; 2 df; n = 33 families) as well as preferential transmission of the long allele of the 5-HTTLPR (TDT chi-square = 5.44; P<0.025; 1 df). No association was observed between the COMT and DRD4 polymorphisms and autism in this sample. Some previous studies have observed linkage between autism and the 5-HTTLPR polymorphism and the current results are similar to those first reported by Klauck et al. [1997: Hum Genet 100:224-229; 1997: Hum Mol Genet 6:2233-2238]. Additionally, elevated serotonin levels have been consistently found in 30%-50% of autistic patients and may represent a marker for familial autism. Hyperserotonemia in autism appears to be due to enhanced 5-HT uptake, as free 5-HT levels are normal and the current report of an excess of the long/long 5-HTTLPR genotype in autism could provide a partial molecular explanation for high platelet serotonin content in autism.

Original languageAmerican English
Pages (from-to)381-386
Number of pages6
JournalAmerican Journal of Medical Genetics, Part B: Neuropsychiatric Genetics
Issue number4
StatePublished - 8 May 2001


  • Association
  • Autism
  • Catechol-O-methyltransferase (COMT)
  • Dopamine D4 receptor (DRD4)
  • Linkage
  • Polymorphism
  • Serotonin promoter region polymorphism (5-HTTLPR)
  • Transmission disequilibrium test


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