Skip to content
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Strong association of de novo copy number mutations with sporadic schizophrenia
Nature Genetics, Volume 40, No. 7, Year 2008
Notification
URL copied to clipboard!
Description
Schizophrenia is an etiologically heterogeneous psychiatric disease, which exists in familial and nonfamilial (sporadic) forms. Here, we examine the possibility that rare de novo copy number (CN) mutations with relatively high penetrance contribute to the genetic component of schizophrenia. We carried out a whole-genome scan and implemented a number of steps for finding and confirming CN mutations. Confirmed de novo mutations were significantly associated with schizophrenia (P = 0.00078) and were collectively ∼8 times more frequent in sporadic (but not familial) cases with schizophrenia than in unaffected controls. In comparison, rare inherited CN mutations were only modestly enriched in sporadic cases. Our results suggest that rare de novo germline mutations contribute to schizophrenia vulnerability in sporadic cases and that rare genetic lesions at many different loci can account, at least in part, for the genetic heterogeneity of this disease. © 2008 Nature Publishing Group.
Authors & Co-Authors
Xu, Bin
United States, New York
Columbia University
Roos, J. L.
South Africa, Pretoria
Weskoppies Hospital
Levy, Shawn E.
United States, Nashville
Vanderbilt University
van Rensburg, Elizabeth J.
South Africa, Pretoria
University of Pretoria
Gogos, Joseph A.
United States, New York
Columbia University
Karayiorgou, Maria
United States, New York
Columbia University
Statistics
Citations: 859
Authors: 6
Affiliations: 4
Identifiers
Doi:
10.1038/ng.162
ISSN:
10614036
e-ISSN:
15461718
Research Areas
Genetics And Genomics
Mental Health