Mosaic copy number variation in schizophrenia

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 SklarCarl Ernst* (Corresponding Author)

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

1 Citation (Scopus)


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.

Original languageEnglish
Pages (from-to)1007-1011
Number of pages5
JournalEJHG : European journal of human genetics : the official journal of the European Society of Human Genetics.
Issue number9
Early online date16 Jan 2013
Publication statusPublished - Sept 2013

Bibliographical note

We thank all subjects for contributing DNA to our research centers.


  • Copy number variation
  • Mosaic
  • Schizophrenia
  • SNP microarrays


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