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Whole Genome Linkage and Association Analyses 

Whole Genome Linkage and Association Analyses
Whole Genome Linkage and Association Analyses

Janine A. Lamb

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date: 10 July 2020

This chapter gives an overview of the linkage, association, and copy number variation studies on autism spectrum disorders (ASD). It reflects on what has been learned about the probable genetic architecture of autism and how this theory impacts on the likely success of different strategies for variant discovery. It also considers the ways in which experimental technology and practice have evolved to meet these challenges. Researchers have discovered several copy number variants and rare mutations that appear to increase the risk of autism. The identification of associated variants, structural variation, and rare sequence mutations in genes such as CNTNAP2, CDH10, SHANK3, NRXN1, and the neuroligin genes is beginning to offer insight into the underlying biology, suggesting that genes involved in the postsynaptic density, neuronal cell-adhesion, and glutamatergic synaptogenesis may be involved in susceptibility to ASD. Some of these genes are also implicated in mental retardation and other neurodevelopmental and psychiatric disorders. These findings have led to a clear shift in thinking about the genetic basis of autism, indicating extensive genetic heterogeneity with the likely contribution of both common and rare variation in multiple genes with diverse functions.

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