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Mapping autism risk loci using genetic linkage and chromosomal rearrangements |
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| Authors: | Autism Genome Project Consortium Szatmari Peter Paterson Andrew D Zwaigenbaum Lonnie Roberts Wendy Brian Jessica Liu Xiao-Qing Vincent John B Skaug Jennifer L Thompson Ann P Senman Lili Feuk Lars Qian Cheng Bryson Susan E Jones Marshall B Marshall Christian R Scherer Stephen W Vieland Veronica J Bartlett Christopher Mangin La Vonne Goedken Rhinda Segre Alberto Pericak-Vance Margaret A Cuccaro Michael L Gilbert John R Wright Harry H Abramson Ruth K Betancur Catalina Bourgeron Thomas Gillberg Christopher Leboyer Marion Buxbaum Joseph D Davis Kenneth L Hollander Eric Silverman Jeremy M |
| Affiliation: | Department of Psychiatry and Behavioural Neurosciences, McMaster University, Hamilton, Ontario L8N 3Z5, Canada. |
| Abstract: | Autism spectrum disorders (ASDs) are common, heritable neurodevelopmental conditions. The genetic architecture of ASDs is complex, requiring large samples to overcome heterogeneity. Here we broaden coverage and sample size relative to other studies of ASDs by using Affymetrix 10K SNP arrays and 1,181 [corrected] families with at least two affected individuals, performing the largest linkage scan to date while also analyzing copy number variation in these families. Linkage and copy number variation analyses implicate chromosome 11p12-p13 and neurexins, respectively, among other candidate loci. Neurexins team with previously implicated neuroligins for glutamatergic synaptogenesis, highlighting glutamate-related genes as promising candidates for contributing to ASDs. |
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