Mapping autism risk loci using genetic linkage and chromosomal rearrangements

Nat Genet. 2007 Mar;39(3):319-28. doi: 10.1038/ng1985. Epub 2007 Feb 18.

Abstract

Autism spectrum disorders (ASDs) are common, heritable neurodevelopmental conditions. The genetic architecture of ASDs is complex, requiring large samples to overcome heterogeneity. Here we broaden coverage and sample size relative to other studies of ASDs by using Affymetrix 10K SNP arrays and 1,181 [corrected] families with at least two affected individuals, performing the largest linkage scan to date while also analyzing copy number variation in these families. Linkage and copy number variation analyses implicate chromosome 11p12-p13 and neurexins, respectively, among other candidate loci. Neurexins team with previously implicated neuroligins for glutamatergic synaptogenesis, highlighting glutamate-related genes as promising candidates for contributing to ASDs.

Publication types

  • Comparative Study
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Autistic Disorder / diagnosis
  • Autistic Disorder / genetics*
  • Chromosome Aberrations*
  • Chromosome Mapping*
  • Family
  • Female
  • Genetic Linkage*
  • Genetic Predisposition to Disease*
  • Genetic Testing / methods*
  • Genetic Variation
  • Humans
  • Lod Score
  • Male
  • Risk Factors

Associated data

  • GEO/GSE6754

Grant support