Genetic pathways to autism spectrum disorders

Over the past several decades, progress in understanding the genetic basis of autism spectrum disorder (ASD) has dramatically altered our conception of its genetic architecture. Once believed to be an oligogenic disorder of common susceptibility variants, autism is now considered to be a collection of distinct ‘autisms’ marked by profound genetic heterogeneity. While twin and family studies have demonstrated a strong genetic etiology, genome-wide linkage and association studies have been limited by the extreme underlying heterogeneity. Genome-wide association studies have identified a few variants with small effects on ASD risk, but no common variants that clearly explain the few replicated linkage signals have been identified, suggesting that common variation is unlikely to play a central role.

 Abstract: http://www.jneuropsychiatry.org/abstract/genetic-pathways-to-autism-spectrum-disorders-6173.html

 For more details PDF Link : http://www.jneuropsychiatry.org/peer-review/genetic-pathways-to-autism-spectrum-disorders-neuropsychiatry.pdf

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