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

Journal article
Authors Marie-Odile Krebs
Catalina Betancur
Leroy Sophie
Marie-Chantal Bourdel
Christopher Gillberg
Marion Leboyer
Published in Molecular Psychiatry
Volume 7
Issue 7
Pages 801-804
ISSN 1359-4184
Publication year 2002
Published at Institute for the Health of Women and Children, Dept of Child and Adolescent Psychiatry
Pages 801-804
Language en
Keywords 5' Untranslated Regions, genetics, Autistic Disorder, genetics, Cell Adhesion Molecules, Neuronal, genetics, Extracellular Matrix Proteins, genetics, Family Health, Female, Genotype, Humans, Linkage Disequilibrium, Male, Nerve Tissue Proteins, Serine Endopeptidases, Trinucleotide Repeats
Subject categories Medical and Health Sciences, Psychiatry


Autism is a complex neurodevelopmental disorder with severe cognitive and communication disabilities, that has a strong genetic predisposition predisposition.1 Reelin, a protein involved in neuronal migration during development, is encoded by a gene located on 7q22, 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 the reelin gene is unlikely to play a major role as a susceptibility factor in autism and/or genetic heterogeneity.

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