The general features [of autism] are nearly identical to those of another heritable condition: schizophrenia. The pattern is so distinctive and so precisely matched that coincidence is unlikely. Also, the two conditions share genetic risk factors.
Over the past decade, the primary engine for discovery in human disease genetics has been genome-wide association studies (GWAS). This technique screens whole genomes in order to identify gene variants, generally common and inherited ones, that show up more often in people with a condition than in controls.
Several studies over the past few years, each with fewer than 10,000 participants, have revealed significant overlap between genetic risk for autism and for schizophrenia…These findings suggest that autism researchers are following in the footsteps of schizophrenia researchers in terms of understanding the common inherited component of a complex neurological condition.
Some 10 to 20 genes have reached a robust level of ‘genome-wide significance,’ with point mutations showing up over and over again. Below this is a more numerous group of genes on a ‘false-discovery rate’ list, containing genes in which de novo point mutations are found at collectively higher rates than expected by chance. However, it remains unclear which of these genes are genuine autism risk factors.
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