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Microduplications of 16p11.2 are associated with schizophrenia.

  • Author(s): 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
  • Wellcome Trust Case Control Consortium
  • 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
  • et al.

Published Web Location

https://doi.org/10.1038/ng.474
Abstract

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 (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 x 10(-7)), bipolar disorder (P = 0.017) and autism (P = 1.9 x 10(-7)). In contrast, the reciprocal microdeletion was associated only with autism and developmental disorders (P = 2.3 x 10(-13)). Head circumference was larger in patients with the microdeletion than in patients with the microduplication (P = 0.0007).

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