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World Psychiatry. 2008 Feb;7(1):11-8.

Advances in endophenotyping schizophrenia.

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  • 1Department of Psychiatry, University of California at San Diego, 9500 Gilman Drive, La Jolla, CA 92093-0804, USA.


The search for the genetic architecture of schizophrenia has employed multiple, often converging strategies. One such strategy entails the use of tracing the heritability and neurobiology of endophenotypes. Endophenotypes are quantifiable traits not visible to the eye, which are thought to reflect an intermediate place on the path from genes to disorder. Endophenotype abnormalities in domains such as neurophysiology or neurocognition occur in schizophrenia patients as well as their clinically "unaffected" relatives, and reflect polymorphisms in the DNA of schizophrenia spectrum subjects which create vulnerability to developing schizophrenia. By identifying the single nucleotide polymorphisms (SNPs) associated with endophenotypes in schizophrenia, psychiatric neuroscientists can select new strong inference based molecular targets for the treatment of schizophrenia.


Schizophrenia; endophenotypes; neurocognition; neurophysiology; vulnerability genes

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