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Microduplications of 16p11.2 are associated with schizophrenia

  • Author(s): McCarthy, SE
  • Makarov, V
  • Kirov, G
  • Addington, AM
  • McClellan, J
  • Yoon, S
  • Perkins, DO
  • Dickel, DE
  • Kusenda, M
  • Krastoshevsky, O
  • Krause, V
  • Kumar, RA
  • Grozeva, D
  • Malhotra, D
  • Walsh, T
  • Zackai, EH
  • Kaplan, P
  • Ganesh, J
  • Krantz, ID
  • Spinner, NB
  • Roccanova, P
  • Bhandari, A
  • Pavon, K
  • Lakshmi, B
  • Leotta, A
  • Kendall, J
  • Lee, YH
  • Vacic, V
  • Gary, S
  • Iakoucheva, LM
  • Crow, TJ
  • Christian, SL
  • Lieberman, JA
  • Stroup, TS
  • Lehtimäki, T
  • Puura, K
  • Haldeman-Englert, C
  • Pearl, J
  • Goodell, M
  • Willour, VL
  • Derosse, P
  • Steele, J
  • Kassem, L
  • Wolff, J
  • Chitkara, N
  • McMahon, FJ
  • Malhotra, AK
  • Potash, JB
  • Schulze, TG
  • Nöthen, MM
  • Cichon, S
  • Rietschel, M
  • Leibenluft, E
  • Kustanovich, V
  • Lajonchere, CM
  • Sutcliffe, JS
  • Skuse, D
  • Gill, M
  • Gallagher, L
  • Mendell, NR
  • Craddock, N
  • Owen, MJ
  • O'Donovan, MC
  • Shaikh, TH
  • Susser, E
  • Delisi, LE
  • Sullivan, PF
  • Deutsch, CK
  • Rapoport, J
  • Levy, DL
  • King, MC
  • Sebat, J
  • 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 × 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). © 2009 Nature America, Inc. All rights reserved.

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