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  • Original Research Article
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Absence of association between a polymorphic GGC repeat in the 5′ untranslated region of the reelin gene and autism

Molecular Psychiatry volume 7, pages 801–804 (2002)Cite this article

Abstract

Autism is a complex neurodevelopmental disorder with severe cognitive and communication disabilities, that has a strong genetic predisposition.1 Reelin, a protein involved in neuronal migration during development, is encoded by a gene located on 7q22,2 within the candidate region on 7q showing increased allele sharing in previous genome scans.3–8 A case/control and family-based association study recently reported a positive association between a trinucleotide repeat polymorphism (GGC) located in the 5′ untranslated region (UTR) of the reelin gene and autism.9 We performed a transmission disequilibrium test (TDT) analysis of the 5′UTR polymorphism in 167 families including 218 affected subjects (117 trios and 50 affected sib pairs) and found no evidence of linkage/association. Our results do not support previous findings and suggest that this GGC polymorphism of the reelin gene is unlikely to be a major susceptibility factor in autism and/or genetic heterogeneity.

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Acknowledgements

We thank the patients and their families who made this research possible. This work was supported by the INSERM, the Assistance Publique-Hopitaux-de-Paris (PHRC AOM95076 and CRC No. 932413), and the Swedish Medical Research Council (grant No. K97-21X-11251-03CK). SL received financial support from Pfizer France (‘Project Cabanis’). We are grateful to Christiane Penet, Yolaine Pothin, and Jacqueline Bou for technical assistance at the DNA and cell bank from the INSERM U289 (IFR des Neurosciences, Hôpital Pitié-Salpêtrière) and to Nathalie Griffon (INSERM U109).

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Authors and Affiliations

  1. Department of Mental Health and Therapeutics, INSERM E0117, University of Paris V, Sainte-Anne Hospital, Paris, 75014, France

    M O Krebs, S Leroy & M C Bourdel

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

    C Betancur & M Leboyer

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

    C Gillberg

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

    M Leboyer

Author notes

  1. Paris Autism Research International Sibpair Study: France. Department of Psychiatry, Hôpital Albert Chenevier et Henri Mondor, Créteil: Marion Leboyer, Anne Philippe; INSERM U513, Faculté de Médecine, Créteil: Catalina Betancur; Service de Psychopathologie de l'Enfant et l'Adolescent, Hôpital Robert Debré, Paris: Catherine Colineaux, Nadia Chabane, Marie-Christine Mouren-Siméoni; INSERM U289, Hôpital de la Salpétrière, Paris: Alexis Brice. Sweden. Department of Child and Adolescent Psychiatry, Göteborg University, Göteborg: Christopher Gillberg, Maria Råstam, Carina Gillberg, Agneta Nydén. Norway. 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.

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    Correspondence to M O Krebs.

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    Krebs, M., Betancur, C., Leroy, S. et al. Absence of association between a polymorphic GGC repeat in the 5′ untranslated region of the reelin gene and autism. Mol Psychiatry 7, 801–804 (2002). https://doi.org/10.1038/sj.mp.4001071

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