Document Detail

Mosaic copy number variation in schizophrenia.
MedLine Citation:
PMID:  23321615     Owner:  NLM     Status:  MEDLINE    
Recent reports suggest that somatic structural changes occur in the human genome, but how these genomic alterations might contribute to disease is unknown. Using samples collected as part of the International Schizophrenia Consortium (schizophrenia, n=3518; control, n=4238) recruited across multiple university research centers, we assessed single-nucleotide polymorphism genotyping arrays for evidence of chromosomal anomalies. Data from genotyping arrays on each individual were processed using Birdsuite and analyzed with PLINK. We validated potential chromosomal anomalies using custom nanostring probes and quantitative PCR. We estimate chromosomal alterations in the schizophrenia population to be 0.42%, which is not significantly different from controls (0.26%). We identified and validated a set of four extremely large (>10 Mb) chromosomal anomalies in subjects with schizophrenia, including a chromosome 8 trisomy and deletion of the q arm of chromosome 7. These data demonstrate that chromosomal anomalies are present at low frequency in blood cells of both control and schizophrenia subjects.
Douglas M Ruderfer; Kim Chambert; Jennifer Moran; Michael Talkowski; Elizabeth S Chen; Carolina Gigek; James F Gusella; Douglas H Blackwood; Aiden Corvin; Hugh M Gurling; Christina M Hultman; George Kirov; Patrick Magnusson; Michael C O'Donovan; Michael J Owen; Carlos Pato; David St Clair; Patrick F Sullivan; Shaun M Purcell; Pamela Sklar; Carl Ernst
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Publication Detail:
Type:  Journal Article     Date:  2013-01-16
Journal Detail:
Title:  European journal of human genetics : EJHG     Volume:  21     ISSN:  1476-5438     ISO Abbreviation:  Eur. J. Hum. Genet.     Publication Date:  2013 Sep 
Date Detail:
Created Date:  2013-08-16     Completed Date:  2014-03-24     Revised Date:  2014-09-02    
Medline Journal Info:
Nlm Unique ID:  9302235     Medline TA:  Eur J Hum Genet     Country:  England    
Other Details:
Languages:  eng     Pagination:  1007-11     Citation Subset:  IM    
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MeSH Terms
Case-Control Studies
Chromosomes, Human, Pair 7 / genetics
Chromosomes, Human, Pair 8 / genetics
DNA Copy Number Variations*
DNA Mutational Analysis
Genetic Association Studies
Genetic Predisposition to Disease
Lod Score
Polymorphism, Single Nucleotide
Schizophrenia / genetics*
Sequence Deletion
Grant Support
G0800509//Medical Research Council

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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