GEO series

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

GSE6754 Homo sapiens Genome variation profiling by SNP array; SNP genotyping by SNP array 6971 samples Submitted 2007/02/20 Platform GPL2641

Summary

Autism spectrum disorders (ASD) are common, heritable neurodevelopmental conditions. The genetic architecture of ASD is complex, requiring large samples to overcome heterogeneity. Here we broaden coverage and sample size relative to other studies of ASD by using Affymetrix 10K single nucleotide polymorphism (SNP) arrays and 1168 families with = 2 affected individuals to perform the largest linkage scan to date, while also analyzing copy number variation (CNV) in these families. Linkage and CNV analyses implicate chromosome 11p12-p13 and neurexins, respectively, amongst other candidate loci. Neurexins team with previously-implicated neuroligins for glutamatergic synaptogenesis, highlighting glutamate-related genes as promising candidates for ASD. Keywords: Autism spectrum disorder, Affymetrix SNP genotyping, linkage analysis, copy number analysis, chromosomal rearrangements.

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Direct links to NCBI, no account and no request form: the whole study as GSE6754_RAW.tar, processed values as the series matrix, the supplementary file directory, and per-sample supplementary files for any of the 6971 samples.

Whole study · RAW.tar ↓ Series matrix ↓ All supplementary files ↗

Also filed as BioProject PRJNA98949. Searching any of these in the dataset finder brings you back here.

NCBI GEO page ↗ Paper (PMID 17322880) ↗

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