Microduplications of 16p11.2 are Associated with Schizophrenia

  title={Microduplications of 16p11.2 are Associated with Schizophrenia},
  author={Shane E. McCarthy and V. Makarov and George G Kirov and Anjen{\'e} M Addington and Jon M. McClellan and Seungtai Yoon and Dianna Perkins and Diane E. Dickel and Mary Kusenda and Olga Krastoshevsky and Verena Krause and Ravinesh A. Kumar and Detelina Grozeva and Dheeraj K Malhotra and Tom D Walsh and E H Zackai and Paige B. Kaplan and Jaya Ganesh and Ian D. Krantz and Nancy B. Spinner and Patricia Roccanova and Abhishek Bhandari and Kevin Pavon and B. Lakshmi and Anthony Leotta and Jude Kendall and Yoon-ha Lee and Vladimir Vacic and Sydney Gary and Lilia M. Iakoucheva and Timothy J. Crow and Susan L. Christian and Jeffrey A. Lieberman and Scott T Stroup and Terho Lehtim{\"a}ki and Kaija L Puura and Chad R Haldeman-Englert and Justin Pearl and Meredith Goodell and Virginia L. Willour and Pamela Derosse and J. S. Steele and Layla Kassem and Jessica Wolff and Nisha Chitkara and Francis J. McMahon and Anil K. Malhotra and James B. Potash and Thomas G. Schulze and Markus M. N{\"o}then and Sven Cichon and Marcella Rietschel and Ellen Leibenluft and Vlad Kustanovich and Clara M. Lajonchere and James S. Sutcliffe and David H. Skuse and Michael Gill and Louise Gallagher and Nancy Role Mendell and Nick J. Craddock and Michael J Owen and Michael C. O’Donovan and Tamim H. Shaikh and Ezra Saul Susser and Lynn E. DeLisi and Patrick F. Sullivan and Curtis K. Deutsch and Judith L. Rapoport and Deborah L. Levy and Mary-Claire King and Jonathan Sebat},
  booktitle={Nature Genetics},
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 × 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… CONTINUE READING
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