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

Krebs, Marie-Odile (author)
Betancur, Catalina (author)
Sophie, Leroy (author)
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Bourdel, Marie-Chantal (author)
Gillberg, Christopher, 1950 (author)
Gothenburg University,Göteborgs universitet,Institutionen för kvinnors och barns hälsa, Avdelningen för barn- och ungdomspsykiatri,Institute for the Health of Women and Children, Dept of Child and Adolescent Psychiatry
Leboyer, Marion (author)
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 (creator_code:org_t)
2002-08-23
2002
English.
In: Molecular Psychiatry. - : Springer Science and Business Media LLC. - 1359-4184 .- 1476-5578. ; 7:7, s. 801-804
  • Journal article (peer-reviewed)
Abstract Subject headings
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  • 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.

Subject headings

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Psykiatri (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Psychiatry (hsv//eng)

Keyword

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

Publication and Content Type

ref (subject category)
art (subject category)

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