Scientific Publications

Mosaic copy number variation in schizophrenia.

Publication TypeJournal Article
AuthorsRuderfer, DM, Chambert K., Moran J., Talkowski M., Chen ES, Gigek C., Gusella JF, Blackwood DH, Corvin A., Gurling HM, Hultman CM, Kirov G., Magnusson P., O'Donovan MC, Owen MJ, Pato C., St Clair D., Sullivan PF, Purcell SM, Sklar P., and Ernst C.
AbstractRecent 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.European Journal of Human Genetics advance online publication, 16 January 2013; doi:10.1038/ejhg.2012.287.
Year of Publication2013
JournalEuropean journal of human genetics : EJHG
Date Published (YYYY/MM/DD)2013/01/16
ISSN Number1018-4813