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Genomic Structural Variants

Volume 838 of the series Methods in Molecular Biology pp 97-113

Date:

Copy Number Variation and Psychiatric Disease Risk

  • Rebecca J. LevyAffiliated withDepartment of Psychiatry, Columbia University Medical CenterDoctoral Program in Neurobiology and Behavior, Columbia University
  • , Bin XuAffiliated withDepartment of Psychiatry, Columbia University Medical CenterDepartment of Physiology and Cellular Biophysics, Columbia University Medical Center
  • , Joseph A. GogosAffiliated withDepartment of Physiology and Cellular Biophysics, Columbia University Medical CenterDepartment of Neuroscience, Columbia University Medical Center
  • , Maria KarayiorgouAffiliated withDepartment of Psychiatry, Columbia University Medical CenterNew York State Psychiatric Institute Email author 

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Abstract

Psychiatric disorders are multifactorial in nature with complex genetic architecture. A number of recent studies, building upon earlier findings of copy number variants (CNVs) at the 22q11.2 locus, suggest that rare CNVs represent an important component of genetic heterogeneity in the etiology of complex psychiatric diseases, such as schizophrenia. De novo CNVs are found with higher frequency among sporadic cases, whereas inherited CNVs are enriched among familial cases. Despite substantial progress, a number of challenges remain, such as pinpointing causative relationships between specific gene(s) affected by CNVs and disease phenotypes as well as distinguishing abnormal structural mutations from neutral polymorphisms and establishing a clear association between individual pathogenic CNV and disease phenotypes.

Key words

Schizophrenia Copy number variants 22q11.2 Microdeletion Rare allele