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Absence of association between a polymorphic GGC repeat in the 5' untranslated region of the reelin gene and autism

Abstract : Autism is a complex neurodevelopmental disorder with severe cognitive and communication disabilities, that has a strong genetic predisposition. Reelin, a protein involved in neuronal migration during development, is encoded by a gene located on 7q22, within the candidate region on 7q showing increased allele sharing in previous genome scans. 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. 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 the reelin gene is unlikely to play a major role as a susceptibility factor in autism and/or genetic heterogeneity.
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https://www.hal.inserm.fr/inserm-00124376
Contributor : Catalina Betancur <>
Submitted on : Monday, January 15, 2007 - 2:27:47 PM
Last modification on : Wednesday, August 19, 2020 - 11:16:37 AM
Long-term archiving on: : Wednesday, April 7, 2010 - 2:08:53 AM

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  • HAL Id : inserm-00124376, version 1
  • PUBMED : 12192627

Citation

Marie-Odile Krebs, Catalina Betancur, Sophie Leroy, Marie-Chantal Bourdel, Christopher Gillberg, et al.. Absence of association between a polymorphic GGC repeat in the 5' untranslated region of the reelin gene and autism. Molecular Psychiatry, Nature Publishing Group, 2002, 7 (7), pp.801. ⟨inserm-00124376⟩

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