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  • Original Research Article
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Serotonin transporter gene polymorphisms and hyperserotonemia in autistic disorder

Molecular Psychiatry volume 7, pages 67–71 (2002)Cite this article

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 21 and a functional deletion/insertion in the promoter region (5-HTTLPR) with short and long variants.2 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 allele3and the other of the long allele.4 Two subsequent studies failed to find evidence of transmission disequilibrium at the 5-HTTLPR locus.5,6 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.7–9Thus, 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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Acknowledgements

We thank the patients and their families who made this research possible. This work was supported by the Délégation de la Recherche Clinique de l'Assistance Publique-Hôpitaux de Paris, Association Française contre les Myopathies, France Télécom, Fondation Lilly, Fondation pour la Recherche Médicale, and the Swedish Medical Research Council. CB was supported by a Cure Autism Now Foundation Award and CS by the Ministère de l'Education Nationale, de l'Enseignement Supérieur et de la Recherche.

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Author notes

  1. C Betancur and M Corbex: These authors contributed equally to this work.

  2. Paris Autism Research International Sibpair Study: Sweden. Department of Child and Adolescent Psychiatry, Göteborg University, Göteborg: Christopher Gillberg, Maria Rastam, Carina Gillberg, Agneta Nydén. France. Department of Psychiatry, Hôpital Albert Chenevier et Henri Mondor, Créteil: Marion Leboyer; INSERM U513, Faculté de Médecine, Créteil: Catalina Betancur, Bruno Giros, Anne Philippe; Service de Psychopathologie de l'Enfant et l'Adolescent, Hôpital Robert Debré, Paris: Nadia Chabane, Marie-Christine Mouren-Siméoni; INSERM U289, Hôpital de la Salpétrière, Paris: Alexis Brice. Norway. National Centre for Child and Adolescent Psychiatry, University of Oslo, Oslo: Eili Sponheim, Ingrid Spurkland; Department of Pediatrics, Rikshospitalet, University of Oslo, Oslo: Ola H Skjeldal. USA. Department of Pediatrics, Georgetown University School of Medicine, Washington DC: Mary Coleman; Children's National Medical Center, George Washington University School of Medicine, Washington, DC: Philip L Pearl; New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York: Ira L Cohen, John Tsiouris. Italy. Divisione di Neuropsichiatria Infantile, Azienda Ospedaliera Senese, Siena: Michele Zappella, Grazia Menchetti, Alfonso Pompella. Austria. Department of General Psychiatry, University Hospital, Vienna: Harald Aschauer. Belgium. Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Gerpinnes, Loverval: Lionel Van Maldergem.

Authors and Affiliations

  1. INSERM U513, Faculté de Médecine, Créteil, 94000, France

    C Betancur, C Spielewoy, A Philippe, J-L Laplanche, B Giros, M Nosten-Bertrand & M Leboyer

  2. CNRS, UMR 9923, Hôpital Pitié-Salpétrière, Paris, 75013, France

    M Corbex

  3. Department of Psychiatry, Hôpital Albert Chenevier et Henri Mondor, Créteil, 94000, France

    A Philippe & M Leboyer

  4. Service de Biochimie, Hôpital Lariboisière, Paris, 75010, France

    J-L Laplanche & J-M Launay

  5. Department of Child and Adolescent Psychiatry, Göteborg University, Göteborg, 41119, Sweden

    C Gillberg

  6. Service de Psychopathologie de l'Enfant et de l'Adolescent, Hôpital Robert Debré, Paris, 75019, France

    M-C Mouren-Siméoni

  7. INSERM U288, Faculté de Médecine Pitié-Salpêtrière, Paris, 75013, France

    M Hamon

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  1. C Betancur
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the Paris Autism Research International Sibpair (PARIS) Study

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Correspondence to C Betancur.

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Betancur, C., Corbex, M., Spielewoy, C. et al. Serotonin transporter gene polymorphisms and hyperserotonemia in autistic disorder. Mol Psychiatry 7, 67–71 (2002). https://doi.org/10.1038/sj.mp.4000923

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