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  • Print publication year: 2012
  • Online publication date: October 2012

Chapter 22 - Alcoholism

Summary

All of the major linkage studies relied on the qualitative diagnosis of autism for their analysis. Their results strongly suggest that individual common genetic risk factors are not likely to cause the entire core deficits required for the broad diagnosis of autism or autism spectrum disorders (ASD). Thus, it is necessary to define more precise intermediate phenotypes or endophenotypes that comprise components of the disorder that might be more closely related to a few single genes of small effect size. Endophenotypes are heritable traits characteristic of the disorder and are present in relatives of affected individuals more frequently than in the unrelated general population. The vast majority of association studies have involved the assessment of single candidate genes whose selection was based either on biological hypotheses or on published linkage regions. Similar to other complex genetic diseases, identifying significant genome-wide linkage and association signals in autism has been challenging.

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