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Microduplications of 16p11.2 are associated with schizophrenia.

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).

SUBMITTER: McCarthy SE 

PROVIDER: S-EPMC2951180 | biostudies-literature | 2009 Nov

REPOSITORIES: biostudies-literature

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Microduplications of 16p11.2 are associated with schizophrenia.

McCarthy Shane E SE   Makarov Vladimir V   Kirov George G   Addington Anjene M AM   McClellan Jon J   Yoon Seungtai S   Perkins Diana O DO   Dickel Diane E DE   Kusenda Mary M   Krastoshevsky Olga O   Krause Verena V   Kumar Ravinesh A RA   Grozeva Detelina D   Malhotra Dheeraj D   Walsh Tom T   Zackai Elaine H EH   Kaplan Paige P   Ganesh Jaya J   Krantz Ian D ID   Spinner Nancy B NB   Roccanova Patricia P   Bhandari Abhishek A   Pavon Kevin K   Lakshmi B B   Leotta Anthony A   Kendall Jude J   Lee Yoon-Ha YH   Vacic Vladimir V   Gary Sydney S   Iakoucheva Lilia M LM   Crow Timothy J TJ   Christian Susan L SL   Lieberman Jeffrey A JA   Stroup T Scott TS   Lehtimäki Terho T   Puura Kaija K   Haldeman-Englert Chad C   Pearl Justin J   Goodell Meredith M   Willour Virginia L VL   Derosse Pamela P   Steele Jo J   Kassem Layla L   Wolff Jessica J   Chitkara Nisha N   McMahon Francis J FJ   Malhotra Anil K AK   Potash James B JB   Schulze Thomas G TG   Nöthen Markus M MM   Cichon Sven S   Rietschel Marcella M   Leibenluft Ellen E   Kustanovich Vlad V   Lajonchere Clara M CM   Sutcliffe James S JS   Skuse David D   Gill Michael M   Gallagher Louise L   Mendell Nancy R NR   Craddock Nick N   Owen Michael J MJ   O'Donovan Michael C MC   Shaikh Tamim H TH   Susser Ezra E   Delisi Lynn E LE   Sullivan Patrick F PF   Deutsch Curtis K CK   Rapoport Judith J   Levy Deborah L DL   King Mary-Claire MC   Sebat Jonathan J  

Nature genetics 20091025 11

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  ...[more]

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