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. 2001 Aug;69(2):327-40.
doi: 10.1086/321980. Epub 2001 Jul 10.

A genomewide screen for autism susceptibility loci

J Liu  1 , D R Nyholt, P Magnussen, E Parano, P Pavone, D Geschwind, C Lord, P Iversen, J Hoh, J Ott, T C Gilliam; Autism Genetic Resource Exchange Consortium
Affiliations

A genomewide screen for autism susceptibility loci

J Liu et al. Am J Hum Genet. 2001 Aug.

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.

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Figures

Figure 1
Figure 1
Chromosome-wise results from MAPMAKER/SIBS multipoint ASP analysis. Solid lines represent results based on use of the narrow diagnosis, and dashed lines represent results based on use of the broad diagnosis.
Figure 1
Figure 1
Chromosome-wise results from MAPMAKER/SIBS multipoint ASP analysis. Solid lines represent results based on use of the narrow diagnosis, and dashed lines represent results based on use of the broad diagnosis.
Figure 2
Figure 2
LOD scores from multipoint ASP analysis of 160 nuclear families. Microsatellite markers used in the original genome scan are shown as unfilled triangles along the X axis. New microsatellite markers not included in the original scan are depicted as blackened triangles. Solid lines represent results based on use of the narrow diagnosis, and dashed lines represent results based on use of the broad diagnosis.
See this image and copyright information in PMC

References

Electronic-Database Information

    1. Autism Genetic Resource Exchange, http://www.agre.org (for DNA samples)
    1. Center for Medical Genetics, Marshfield Medical Research Foundation, http://research.marshfieldclinic.org/genetics/ (for fluorescence-labeled genome screening set)
    1. Cure Autism Now Foundation, http://www.canfoundation.org (for recruitment of families affected by autism)
    1. Online Mendelian Inheritance in Man (OMIM), http://www.ncbi.nlm.nih.gov/Omim (for autism [MIM209850], fragile X syndrome [MIM 309550] and tuberous sclerosis [MIM191100])

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