Mapping autism risk loci using genetic linkage and chromosomal rearrangements
By Peter Szatmari, A. Paterson, Lonnie Zwaigenbaum, W. Roberts, J. Brian, Xiao-qing Liu, J. Vincent, J. Skaug, A. Thompson, Lili Senman and 128 more. Nature Genetics, 2007
1,398 citations recorded by the source corpus.
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 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.
Subfields: Cognitive Neuroscience, Genetics
View Paper: https://www.semanticscholar.org/paper/3505a2285cdbd6656205231fc6ce79c2787e8bfa
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In Cognitive Neuroscience
- Bhismadev Chakrabarti
- Michael V. Lombardo
- Bonnie Auyeung
- Simon Baron-Cohen
- Rebecca C. Knickmeyer
- Emma Ashwin
- C. Betancur
- Geraldine Dawson
In Genetics
- Bhismadev Chakrabarti
- Michael V. Lombardo
- Bonnie Auyeung
- Rebecca C. Knickmeyer
- Simon Baron-Cohen
- C. Betancur
- Geraldine Dawson
- Edwin H. Cook Jr.
Citations in the corpus
- Why Are Autism Spectrum Conditions More Prevalent in Males? (2011, background): “Reduced Autosomal Penetrance in Females? A Final Theory For completeness we briefly mention a final theory, arising from studies of rare CNVs with ASC [67,74,100,101].”
- Early behavioral intervention, brain plasticity, and the prevention of autism spectrum disorder (2008, background): “More evidence for involvement of this pathway comes from the findings of the Autism Genome Project (Szatmari et al., 2007) involving collaboration among 50 institutions that pooled genetic data”