A genomewide screen for autism susceptibility loci. Academic Article uri icon

Overview

abstract

  • We report the analysis of 335 microsatellite markers genotyped in 110 multiplex families with autism. All families include at least two "affected" siblings, at least one of whom has autism; the remaining affected sibs carry diagnoses of either Asperger syndrome or pervasive developmental disorder. Affected sib-pair analysis yielded multipoint maximum LOD scores (MLS) that reach the accepted threshold for suggestive linkage on chromosomes 5, X, and 19. Nominal evidence for linkage (point-wise P<.05) was obtained on chromosomes 2, 3, 4, 8, 10, 11, 12, 15, 16, 18, and 20, and secondary loci were found on chromosomes 5 and 19. Analysis of families sharing alleles at the putative X chromosomal linked locus and one or more other putative linked loci produced an MLS of 3.56 for the DXS470-D19S174 marker combination. In an effort to increase power to detect linkage, scan statistics were used to evaluate the significance of peak LOD scores based on statistical evidence at adjacent marker loci. This analysis yielded impressive evidence for linkage to autism and autism-spectrum disorders with significant genomewide P values <.05 for markers on chromosomes 5 and 8 and with suggestive linkage evidence for a marker on chromosome 19.

publication date

  • July 10, 2001

Research

keywords

  • Autistic Disorder
  • Chromosome Mapping
  • Genetic Linkage
  • Genetic Predisposition to Disease

Identity

PubMed Central ID

  • PMC1235325

Scopus Document Identifier

  • 0034920299

Digital Object Identifier (DOI)

  • 10.1086/321980

PubMed ID

  • 11452361

Additional Document Info

volume

  • 69

issue

  • 2