Cited by 98Genomic variations and chromosomal abnormalitiesSchizophrenia research and treatmentGenetic Associations and Epidemiology

The Role of DNA Copy Number Variation in Schizophrenia

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Tam, Gloria W.C., Redon, Richard, Carter, Nigel P., Grant, Seth G.N.·2009·Biological Psychiatry

Abstract

Schizophrenia is a major psychiatric disease with strong evidence of genetic risk factors. Recent studies based on genome-wide study of copy number variations (CNVs) have detected novel recurrent submicroscopic copy number changes, including recurrent deletions at 1q21.11, 15q11.3, 15q13.3, and the recurrent CNV at the 2p16.3 neurexin 1 locus. These schizophrenia susceptibility CNV loci demonstrate that schizophrenia is, at least in part, genetic in origin and provide the basis for further investigation of mutations associated with the disease. The studies combined have also established the role of rare and-in sporadic cases-de novo variants in schizophrenia. Furthermore, neuronal-related genes and genetic pathways are starting to emerge from the CNV loci associated with schizophrenia. Here, we review the major findings in the recent literature, which begin to unravel the genetic and biological architecture of this complex human neuropsychiatric disorder.

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Authors
Tam, G. W. C., Redon, R., Carter, N. P., & Grant, S. G. N.
Affiliations
Wellcome Sanger Institute (GB)
Corresponding author
Grant, Seth G.N.
Venue
Biological Psychiatry
Publisher
Elsevier BV
Published
2009-12
Volume
66
Issue
11
Pages
1005-1012
ISSN
0006-3223 (ISSN-L)
OpenAlex
W2083492263
Cited by
98
References
104
Citations by year
2026: 1 · 2025: 1 · 2024: 1 · 2023: 1 · 2022: 3 · 2021: 2 · 2020: 4 · 2019: 4 · 2018: 4 · 2017: 4 · 2016: 4 · 2015: 4 · 2014: 10 · 2013: 9 · 2012: 20
FWCI
1.42
Type
journal article
Language
en
Open access
Locations
  • Biological Psychiatry (publishedVersion)
  • PubMed (publishedVersion)
Funders
Wellcome Trust
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
  • Health Sciences › Medicine › Psychiatry and Mental health › Schizophrenia research and treatment
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Keywords
schizophrenia, copy number variation, genetic susceptibility, 15q13.3, de novo mutations, recurrent deletions, neuronal genes, genetic architecture
MeSH terms
Mental Disorders, Chromosome Deletion, Chromosomes, Human, Pair 1, Chromosomes, Human, Pair 15, Chromosomes, Human, Pair 2, Humans, Models, Genetic, Neural Pathways, Schizophrenia, Genetic Predisposition to Disease, Genome-Wide Association Study, DNA Copy Number Variations

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