Genetic Components of Autism Spectrum Disorders

Project Details

Description

PROVIDED.
Autism is a serious neurodevelopmental disorder characterized by deficits in communication, abnormal social
interactions, and rigid or repetitive interests and behaviors. Although there is strong evidence of an important
genetic contribution to the cause of autism, the isolation of specific genetic defects that cause autism has
been difficult. We plan to pursue two complementary avenues to search for autism susceptibility genes.
First, we will conduct linkage analysis on a set of 150 nuclear family units collected and assessed for this
project. Ascertained through a proband with autism, immediate and, when available, extended family
members will be characterized by a battery of instruments that examine the domains of language ability,
social relatedness, and repetitive and rigid/compulsive behavior. Each of these domains has demonstrated
heritability, and impariments in these domains are found at increased rates among non-autistic relatives of
probands with autism. Our recent genetic linkage study on specific language impairment (SLI) suggests that
at least one susceptibility locus is shared between SLI and autism. We plan to calculate the heritability of the
items in our test battery in our sample, and select the most heritable for use in linkage analysis. We will use
a two-stage design, completing a full 9 cM density genome scan on the first 75 families, genotyping the
remaining families at loci producing suggestive linkage results. The entire sample will be used for
fine-mapping of any highly suggestive or significant linkage results. The second strategy to search for autism
susceptibility genes will be to conduct large-scale association analyses using trios (proband with autism and
two parents) from the families collected for this project, as well as the collections from AGRE, the NIMH
Human Genetics Initiative samples and the Coriell Autism Resource samples. We anticipate approximately
850 trios will be suitable and available for use. As association methods have power to detect genetic effects
that may be poorly detected by linkage, we will use this sample to investigate regions that have
demonstrated suggestive linkage to autism or language phenotypes in our work and the work of others.
StatusFinished
Effective start/end date9/29/036/30/09

Funding

  • National Institute of Mental Health: $740,358.00
  • National Institute of Mental Health: $683,685.00
  • National Institute of Mental Health: $717,892.00
  • National Institute of Mental Health: $735,999.00
  • National Institute of Mental Health: $740,265.00

ASJC

  • Psychiatry and Mental health
  • Genetics

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