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Annu Rev Genomics Hum Genet. 2011;12:121-44. doi: 10.1146/annurev-genom-082410-101459.

Genetics of schizophrenia: new findings and challenges.

Author information

  • 1Center for Psychiatric Genetics, NorthShore University HealthSystem Research Institute, Evanston, Illinois 60201, USA. pgejman@uchicago.edu


The work conducted using genome-wide approaches during the past several years has invigorated the field, and represents the dawn of molecular genetics of schizophrenia. The aggregate data increasingly support a combination of rare and common genetic variation in schizophrenia, a major role for polygenic inheritance, and a genetic overlap of schizophrenia and other psychiatric disorders, such as bipolar disorder and autism. The current and upcoming resequencing programs (full exomes to full genomes), in combination with the use of more informative genotyping arrays, will allow a more thorough dissection of the molecular genetics of the disorder. A main challenge for the field is the translation of established genetic associations into a better pathophysiological understanding of schizophrenia.

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