Genetics of Neuropsychiatric and Neurodevelopmental Disorders

Study ID Alternative Stable ID Type
phs000682 Multiplex Families

Study Description

Although schizophrenia is a highly heritable disease, relatively little progress had been made in securely identifying the genetic causes of this disorder, and most instances of schizophrenia in the general population remain unexplained. One avenue of explanation for the genetic basis of schizophrenia, however, has been effectively closed by recent research. Genome-wide association studies (GWAS) have now shown that common variation makes at most a modest contribution to the risk of schizophrenia. At the same time that the role of common variation has been circumscribed by GWAS, however, the analysis of copy number variants that are detectable on a genome-wide scale has revealed and replicated a number of very rare variants that associate with schizophrenia. These rare copy number variants that have been implicated in schizophrenia, however, have one striking feature in common: they are all risk factors for other brain related disorders beyond schizophrenia such as mental retardation, autism and epilepsy. These findings argue that genetic risk factors may confer a highly ... (Show More)

Archive Link Archive Accession
dbGaP phs000682

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