Mosaic copy number variation in schizophrenia

Ruderfer, D., Chambert, K., Moran, J., Talkowski, M., Chen, E., Gigek, C., Gusella, J., Blackwood, D., Corvin, A., Gurling, H., Hultman, C., Kirov, George ORCID: https://orcid.org/0000-0002-3427-3950, Magnusson, P., O'Donovan, Michael Conlon ORCID: https://orcid.org/0000-0001-7073-2379, Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862, Pato, C., St Clair, D., Sullivan, P., Purcell, S., Sklar, P. and Ernst, C. 2013. Mosaic copy number variation in schizophrenia. European Journal of Human Genetics 21 (9) , pp. 1007-1011. 10.1038/ejhg.2012.287

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Abstract

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.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG) Medicine Neuroscience and Mental Health Research Institute (NMHRI)
Subjects:	R Medicine > R Medicine (General) R Medicine > RZ Other systems of medicine
Uncontrolled Keywords:	copy number variation; mosaic; SNP microarrays; Case-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
Publisher:	Nature Publishing Group
ISSN:	1018-4813
Date of Acceptance:	27 November 2012
Last Modified:	28 Oct 2022 09:46
URI:	https://orca.cardiff.ac.uk/id/eprint/75660

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