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

Mol Psychiatry. 2002;7(7):801-4. doi: 10.1038/sj.mp.4001071.

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 this GGC polymorphism of the reelin gene is unlikely to be a major susceptibility factor in autism and/or genetic heterogeneity.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 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
  • Reelin Protein
  • Serine Endopeptidases
  • Trinucleotide Repeats*

Substances

  • 5' Untranslated Regions
  • Cell Adhesion Molecules, Neuronal
  • Extracellular Matrix Proteins
  • Nerve Tissue Proteins
  • Reelin Protein
  • RELN protein, human
  • Serine Endopeptidases