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Journal articles
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.
https://www.hal.inserm.fr/inserm-00124376
Contributor : Catalina Betancur <>
Submitted on : Monday, January 15, 2007 - 2:27:47 PM
Last modification on : Thursday, December 10, 2020 - 10:51:58 AM
Long-term archiving on: : Wednesday, April 7, 2010 - 2:08:53 AM
Contributor : Catalina Betancur <>
Submitted on : Monday, January 15, 2007 - 2:27:47 PM
Last modification on : Thursday, December 10, 2020 - 10:51:58 AM
Long-term archiving on: : Wednesday, April 7, 2010 - 2:08:53 AM