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Support for the association between the rare functional variant I425V of the serotonin transporter gene and susceptibility to obsessive compulsive disorder

Molecular Psychiatry volume 10, pages 1059–1061 (2005)Cite this article

SIR—Recently, a rare functional variant, I425V, in the serotonin transporter gene (SLC6A4) has been reported to be associated with a complex neuropsychiatric phenotype that includes obsessive–compulsive disorder (OCD), alcohol abuse/dependence, anorexia nervosa, and pervasive developmental disorder (PDD).1 Our study, performed in a large population of patients with these disorders, confirms the occurrence and the segregation of V425 in OCD.

The neurotransmitter serotonin (5-hydroxytryptamine (5-HT)) has been implicated in numerous psychiatric disorders, mostly because of the efficacy of serotonin reuptake inhibitors (SRIs). Among the polymorphisms identified in SLC6A4, three have been shown to be functional. The rare I425V variation, located in exon 9, increases the transport activity of the protein,2 whereas the two more frequent polymorphisms, 5-HTTLPR located in the 5′-UTR of the gene, and STin2 located in intron 2, modify the transcriptional activity of the gene.3, 4 Despite a large number of studies, the functional implications of the two frequent SLC6A4 polymorphisms in psychiatric disorders are still a matter of debate. In the present study, we sought to further explore the influence of the rare but clearly functional I425V variant in a large sample of patients with OCD and other psychiatric conditions previously reported in the two families carrying I425V, that is, PDD, anorexia nervosa, and alcohol abuse/dependence.

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Authors and Affiliations

  1. Human Genetics and Cognitive Functions, Institut Pasteur, Paris, France

    R Delorme, C M Durand, J Melke & T Bourgeron

  2. INSERM U513, Faculté de Médecine, Université Paris XII, Créteil, France

    R Delorme, C Betancur, N Chabane, I Roy & M Leboyer

  3. Service de Psychopathologie de l’Enfant et de l’Adolescent, Hôpital Robert Debré, Assistance Publique-Hôpitaux de Paris, Paris, France

    R Delorme, N Chabane & M C Mouren-Simeoni

  4. Department of Psychiatry, University of Bonn, Bonn, Germany

    M Wagner, C Reck & W Maier

  5. INSERM E0117, Hôpital Sainte-Anne, Paris, France

    M O Krebs & B Millet

  6. INSERM U675 (IFR02) Faculté Bichat, Paris, France

    P Gorwood, P Pickering & A Kipman

  7. Children's National Medical Center, The George Washington University School of Medicine, Washington, DC, USA

    P Pearl

  8. Department of Child and Adolescent Psychiatry, Göteborg University, Göteborg, Sweden

    G Nygren, H Anckarsäter, M Råstam & C Gillberg

  9. Department of Psychiatry, University Greifwald, Greifwald, Germany

    F Buhtz & M Leboyer

  10. Department of Psychiatry, University of Cologne, Cologne, Germany

    S Ruhrmann

  11. Service de Psychiatrie, Hôpital Henri Mondor et Albert Chenevier, Assistance Publique-Hôpitaux de Paris, Créteil, France

    I Roy

  12. Saint George's Hospital Medical School, London, UK

    C Gillberg

  13. Université Denis Diderot Paris 7, Paris, France

    T Bourgeron

Authors
  1. R Delorme
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  2. C Betancur
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  3. M Wagner
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  4. M O Krebs
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  5. P Gorwood
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  6. P Pearl
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  7. G Nygren
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  8. C M Durand
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  9. F Buhtz
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  10. P Pickering
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  11. J Melke
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  12. S Ruhrmann
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  13. H Anckarsäter
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  14. N Chabane
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  15. A Kipman
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  16. C Reck
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  17. B Millet
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  18. I Roy
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  19. M C Mouren-Simeoni
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  20. W Maier
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  21. M Råstam
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  22. C Gillberg
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  23. M Leboyer
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  24. T Bourgeron
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Corresponding author

Correspondence to T Bourgeron.

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Delorme, R., Betancur, C., Wagner, M. et al. Support for the association between the rare functional variant I425V of the serotonin transporter gene and susceptibility to obsessive compulsive disorder. Mol Psychiatry 10, 1059–1061 (2005). https://doi.org/10.1038/sj.mp.4001728

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  • DOI: https://doi.org/10.1038/sj.mp.4001728

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