Association of Reelin gene polymorphisms with autism

Genomics. 2006 Jan;87(1):75-83. doi: 10.1016/j.ygeno.2005.09.008. Epub 2005 Nov 28.

Abstract

Genome scans indicate a linkage of autism to the chromosome 7q21-q36 region. Recent studies suggest that the Reelin gene may be one of the loci contributing to the positive linkage between chromosome 7q and autism. However, these studies were relatively small scale, using a few markers in the gene. We investigated 34 single nucleotide polymorphisms (SNPs) in the Reelin gene with an average spacing between the SNPs of 15 kb for evidence of association with autism. There were significant differences in the transmission of the alleles of exon 22 and intron 59 SNP to autistic subjects. Our findings support a role for the Reelin gene in the susceptibility to autism.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Autistic Disorder / genetics*
  • Case-Control Studies
  • Cell Adhesion Molecules, Neuronal / genetics*
  • Chromosomes, Human, Pair 7 / genetics*
  • Exons / genetics
  • Extracellular Matrix Proteins / genetics*
  • Female
  • Genetic Linkage*
  • Genetic Predisposition to Disease*
  • Humans
  • Introns / genetics
  • Male
  • Nerve Tissue Proteins / genetics*
  • Polymorphism, Single Nucleotide / genetics*
  • Reelin Protein
  • Serine Endopeptidases / genetics*

Substances

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