New findings from genetic association studies of schizophrenia

J Hum Genet. 2009 Jan;54(1):9-14. doi: 10.1038/jhg.2008.7. Epub 2009 Jan 9.


In the past 20 years, association studies of schizophrenia have evolved from analyses in lesser than 100 subjects of one or two markers in candidate genes to systematic analyses of association at a genome-wide level in samples of thousands of subjects. During this process, much of the emergent literature has been difficult to interpret and definitive findings that have met with universal acceptance have been elusive, largely because studies have been underpowered for such conclusions to be drawn. Nevertheless, in the course of the past few years, a few promising candidate genes have been reported for which the evidence is positive across multiple studies, and more recently, genome-wide association studies have yielded findings of a compelling nature. It is clear that genetic studies in schizophrenia have borne fruit, a process that can be expected to accelerate in the next few years, and that these findings are providing new avenues for research into the pathophysiology of this poorly understood disorder.

Publication types

  • Review

MeSH terms

  • DNA Copy Number Variations / genetics
  • Genetic Predisposition to Disease*
  • Genome-Wide Association Study*
  • Humans
  • Schizophrenia / genetics*