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Eur J Hum Genet DOI:10.1038/ejhg.2012.287

Mosaic copy number variation in schizophrenia.

Publication TypeJournal Article
Year of Publication2013
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, Ernst, C
JournalEur J Hum Genet
Date Published2013 Sep
KeywordsCase-Control Studies, Chromosomes, Human, Pair 7, Chromosomes, Human, Pair 8, DNA Copy Number Variations, DNA Mutational Analysis, Genetic Association Studies, Genetic Predisposition to Disease, Humans, Lod Score, Mosaicism, Polymorphism, Single Nucleotide, Schizophrenia, Sequence Deletion, Trisomy

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.


Alternate JournalEur. J. Hum. Genet.
PubMed ID23321615
PubMed Central IDPMC3746263
Grant ListG0800509 / / Medical Research Council / United Kingdom