Human Molecular Genetics Advance Access published online on March 21, 2007
Human Molecular Genetics, doi:10.1093/hmg/ddm015
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High Density SNP Association Study of a Major Autism Linkage Region on Chromosome 17
1 Department of Human Genetics, University of California, Los Angeles 2 Department of Neurology, University of California, Los Angeles 3 Program in Neurobiology, University of California, Los Angeles 4 Center for Neurobehavioral Genetics, University of California, Los Angeles 5 Department of Psychiatry Biobehavioral Sciences, University of California, Los Angeles
* Correspondence should be addressed to: 695 Charles Young Drive South, Gonda Building, Room 5554, Los Angeles, CA 90095. E-mail: snelson{at}ucla.edu, Telephone: 310-794-7981, Fax: 310-794-5446.
Received December 4, 2006; Revised February 2, 2007; Accepted February 2, 2007
A region on chromosome 17 has recently been highlighted as linked to autism (MIM[209850]) in multiple studies and evidence has accumulated suggesting that male-only families (those families that have produced only affected males) provide the major contribution to linkage at this locus. In an attempt to comprehensively test for association of common variants to autism within the region on chromosome 17 defined in Stone et al.(1), a dense panel of single nucleotide polymorphisms (SNPs) was selected across the linkage peak and analyzed in a trio-based study design. SNPs were genotyped in 219 independent trios at an average intermarker distance of 6.1kb across the 13.7 Mb interval. This provided approximately 80% coverage of common HapMap variation present in Caucasians, testing exonic, intronic, promoter, and intergenic regions, as knowledge of important functional regions within the genome is currently limited. In this comprehensive association study of a linkage region in autism, no single SNP or haplotype association was sufficient to account for the initial linkage signal. Nominally significant single SNP and/or haplotype based association results were detected in fifteen genes, of which, MYO1D, ACCN1, and LASP1 stand out as genes with autism risk alleles requiring further study, with potential GRRs in the range of 1.34 to 2.29.
6 Current address: Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA.
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