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| Original Research Article |
| Absence of association between a polymorphic GGC repeat in the 5' untranslated region of the reelin gene and autism |
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| M O Krebs1, C Betancur2, S Leroy1, M C Bourdel1, C Gillberg3 and M Leboyer2,4 the Paris Autism Research International Sibpair (PARIS) Study |
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1INSERM E0117, University of Paris V, Department of Mental Health and Therapeutics, Sainte-Anne Hospital, 75014 Paris, France
2INSERM U513, Faculté de Médecine de Créteil, 94000 Créteil, France
3Department of Child and Adolescent Psychiatry, Göteborg University, 41119 Göteborg, Sweden
4Department of Psychiatry, Hôpital Albert Chenevier et Henri Mondor, 94000 Créteil, France
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Correspondence to: M O Krebs, Service Hospitalo-Universitaire, Hôpital Sainte-Anne, 7, rue Cabanis, 75014 Paris, France. E-mail: krebs@chsa.broca.inserm.fr | |
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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| 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. Molecular Psychiatry (2002) 7, 801-804. doi:10.1038/sj.mp.4001071 |
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| Keywords |
| autistic disorder; association study; transmission disequilibrium test; neurodevelopment; reelin |
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| Received 1 October 2001; accepted 21 December 2001 |
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| 2002, Volume 7, Number 7, Pages 801-804 |
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