Article
Microduplications of 16p11.2 are associated with schizophrenia.
Nature genetics - 1 Nov 2009
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, 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 Nick, Owen Michael J, O'Donovan Michael C, Shaikh Tamim H, Susser Ezra, Delisi Lynn E, Sullivan Patrick F, Deutsch Curtis K, Rapoport Judith, Levy Deborah L, King Mary-Claire, Sebat Jonathan
Abstract excerpt
Recurrent microdeletions and microduplications of a 600-kb genomic region of chromosome 16p11.2 have been implicated in childhood-onset developmental disorders. 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 x 10(-5), OR = 25.8) from the initial cohort, and in 9/2,645...
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