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Microduplications of 16p11.2 are associated with schizophrenia

McCarthy, Shane E., Makarov, Vladimir, Kirov, George, Addington, Anjene M., McClellan, Jon, Yoon, Seungtai, Perkins, Diana O., Dickel, Diane E., Kusenda, Mary, Krastoshevsky, Olga, Krause, Verena, Kumar, Ravinesh A., Grozeva, Detelina Valentinova, Malhotra, Dheeraj, Walsh, Tom, Zackai, Elaine H., Kaplan, Paige, Ganesh, Jaya, Krantz, Ian D., Spinner, Nancy B., Roccanova, Patricia, Bhandari, Abhishek, Pavon, Kevin, Lakshmi, B., Leotta, Anthony, Kendall, Jude, Lee, Yoon-ha, Vacic, Vladimir, Gary, Sydney, Iakoucheva, Lilia M., Crow, Timothy J., Christian, Susan L., Lieberman, Jeffrey A., Stroup, T. Scott, Lehtimäki, Terho, Puura, Kaija, Haldeman-Englert, Chad, Pearl, Justin, Goodell, Meredith, Willour, Virginia L., DeRosse, Pamela, Steele, Jo, Kassem, Layla, Wolff, Jessica, Chitkara, Nisha, McMahon, Francis J., Malhotra, Anil K., Potash, James B., Schulze, Thomas G., Nöthen, Markus M., Cichon, Sven, Rietschel, Marcella, Leibenluft, Ellen, Kustanovich, Vlad, Lajonchere, Clara M., Sutcliffe, James S., Skuse, David, Gill, Michael, Gallagher, Louise, Mendell, Nancy R., Craddock, Nicholas John, Owen, Michael John, O'Donovan, Michael Conlon, Shaikh, Tamim H., Susser, Ezra, DeLisi, Lynn E., Sullivan, Patrick F., Deutsch, Curtis K., Rapoport, Judith, Levy, Deborah L., King, Mary-Claire and Sebat, Jonathan 2009. Microduplications of 16p11.2 are associated with schizophrenia. Nature Genetics 41 (11) , pp. 1223-1227. 10.1038/ng.474

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Abstract

Recurrent microdeletions and microduplications of a 600-kb genomic region of chromosome 16p11.2 have been implicated in childhood-onset developmental disorders1, 2, 3. We report the association of 16p11.2 microduplications with schizophrenia in two large cohorts. The microduplication was detected in 12/1,906 (0.63%) cases and 1/3,971 (0.03%) controls (P = 1.2 10-5, OR = 25.8) from the initial cohort, and in 9/2,645 (0.34%) cases and 1/2,420 (0.04%) controls (P = 0.022, OR = 8.3) of the replication cohort. The 16p11.2 microduplication was associated with a 14.5-fold increased risk of schizophrenia (95% CI (3.3, 62)) in the combined sample. A meta-analysis of datasets for multiple psychiatric disorders showed a significant association of the microduplication with schizophrenia (P = 4.8 10-7), bipolar disorder (P = 0.017) and autism (P = 1.9 10-7). In contrast, the reciprocal microdeletion was associated only with autism and developmental disorders (P = 2.3 10-13). Head circumference was larger in patients with the microdeletion than in patients with the microduplication (P = 0.0007).

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Neuroscience and Mental Health Research Institute (NMHRI)
Subjects: R Medicine > RC Internal medicine > RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry
Publisher: Nature Publishing Group
ISSN: 1061-4036
Last Modified: 04 Jun 2017 03:58
URI: http://orca.cf.ac.uk/id/eprint/29866

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