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 Sklar; Carl Ernst

doi:10.1038/ejhg.2012.287

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

Research output: Contribution to journal › Article › peer-review

10 Scopus citations

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.

Original language	English (US)
Pages (from-to)	1007-1011
Number of pages	5
Journal	European Journal of Human Genetics
Volume	21
Issue number	9
DOIs	https://doi.org/10.1038/ejhg.2012.287
State	Published - Sep 2013
Externally published	Yes

All Science Journal Classification (ASJC) codes

Genetics
Genetics(clinical)

Keywords

SNP microarrays
copy number variation
mosaic
schizophrenia

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10.1038/ejhg.2012.287

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Ruderfer, D. M., Chambert, K., Moran, J., Talkowski, M., Chen, E. S., Gigek, C., Gusella, J. F., Blackwood, D. H., Corvin, A., Gurling, H. M., Hultman, C. M., Kirov, G., Magnusson, P., O'Donovan, M. C., Owen, M. J., Pato, C., St Clair, D., Sullivan, P. F., Purcell, S. M., ... Ernst, C. (2013). Mosaic copy number variation in schizophrenia. European Journal of Human Genetics, 21(9), 1007-1011. https://doi.org/10.1038/ejhg.2012.287

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title = "Mosaic copy number variation in schizophrenia",

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.",

keywords = "SNP microarrays, copy number variation, mosaic, schizophrenia",

author = "Ruderfer, {Douglas M.} and Kim Chambert and Jennifer Moran and Michael Talkowski and Chen, {Elizabeth S.} and Carolina Gigek and Gusella, {James F.} and Blackwood, {Douglas H.} and Aiden Corvin and Gurling, {Hugh M.} and Hultman, {Christina M.} and George Kirov and Patrick Magnusson and O'Donovan, {Michael C.} and Owen, {Michael J.} and Carlos Pato and {St Clair}, David and Sullivan, {Patrick F.} and Purcell, {Shaun M.} and Pamela Sklar and Carl Ernst",

year = "2013",

month = sep,

doi = "10.1038/ejhg.2012.287",

language = "English (US)",

volume = "21",

pages = "1007--1011",

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Ruderfer, 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 2013, 'Mosaic copy number variation in schizophrenia', European Journal of Human Genetics, vol. 21, no. 9, pp. 1007-1011. https://doi.org/10.1038/ejhg.2012.287

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AU - Ruderfer, Douglas M.

AU - Chambert, Kim

AU - Moran, Jennifer

AU - Talkowski, Michael

AU - Chen, Elizabeth S.

AU - Gigek, Carolina

AU - Gusella, James F.

AU - Blackwood, Douglas H.

AU - Corvin, Aiden

AU - Gurling, Hugh M.

AU - Hultman, Christina M.

AU - Kirov, George

AU - Magnusson, Patrick

AU - O'Donovan, Michael C.

AU - Owen, Michael J.

AU - Pato, Carlos

AU - St Clair, David

AU - Sullivan, Patrick F.

AU - Purcell, Shaun M.

AU - Sklar, Pamela

AU - Ernst, Carl

PY - 2013/9

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N2 - 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.

AB - 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.

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Mosaic copy number variation in schizophrenia

Abstract

All Science Journal Classification (ASJC) codes

Keywords

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