DOI: 10.1038/ng.474

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Microduplications of 16p11.2 are associated with schizophrenia

Shane McCarthy,Vladimir Makarov,George Kirov,Anjené Addington,Jon McClellan,Seungtai Yoon,Diana O. Perkins,Diane E. Dickel,Mary Kusenda,Olga Krastoshevsky,Verena Krause,Revati Kumar,Detelina Grozeva,Dheeraj Malhotra,Tom Walsh,Elaine H. Zackai,Paige Kaplan,Jaya Ganesh,Ian D. Krantz,Nancy B. Spinner,Patricia Roccanova,Abhishek Bhandari,Kevin Pavon,B. Lakshmi,Anthony Leotta,Jude Kendall,Yoon-ha Lee,Vladimir Vacic,Sydney Gary,Lilia M. Iakoucheva,Timothy J. Crow,Susan L. Christian,Jeffrey A. Lieberman,T. Scott Stroup,Terho Lehtimäki,Kaija Puura,Chad R. Haldeman-Englert,Justin Pearl,Meredith Goodell,Virginia L. Willour,Pamela DeRosse,Jo Steele,Layla Kassem,J. Wolff,Nisha Chitkara,Francis J. McMahon,Anil K. Malhotra,James B. Potash,Thomas G. Schulze,Markus M. Nöthen,Sven Cichon,Marcella Rietschel,Ellen Leibenluft,Vlad Kustanovich,Clara Lajonchere,James S. Sutcliffe,David Skuse,Michael Gill,Louise Gallagher,Nancy R. Mendell,Nick Craddock,Michael John Owen,Michael O’Donovan,Tamim H. Shaikh,Ezra Süsser,Lynn E. DeLisi,Patrick F. Sullivan,Curtis K. Deutsch,Judith L. Rapoport,Deborah L. Levy,Mary Claire King,Jonathan Sebat

Autism

Schizophrenia (object-oriented programming)

Cohort

2009

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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“Microduplications of 16p11.2 are associated with schizophrenia” is a paper by Shane McCarthy Vladimir Makarov George Kirov Anjené Addington Jon McClellan Seungtai Yoon Diana O. Perkins Diane E. Dickel Mary Kusenda Olga Krastoshevsky Verena Krause Revati Kumar Detelina Grozeva Dheeraj Malhotra Tom Walsh Elaine H. Zackai Paige Kaplan Jaya Ganesh Ian D. Krantz Nancy B. Spinner Patricia Roccanova Abhishek Bhandari Kevin Pavon B. Lakshmi Anthony Leotta Jude Kendall Yoon-ha Lee Vladimir Vacic Sydney Gary Lilia M. Iakoucheva Timothy J. Crow Susan L. Christian Jeffrey A. Lieberman T. Scott Stroup Terho Lehtimäki Kaija Puura Chad R. Haldeman-Englert Justin Pearl Meredith Goodell Virginia L. Willour Pamela DeRosse Jo Steele Layla Kassem J. Wolff Nisha Chitkara Francis J. McMahon Anil K. Malhotra James B. Potash Thomas G. Schulze Markus M. Nöthen Sven Cichon Marcella Rietschel Ellen Leibenluft Vlad Kustanovich Clara Lajonchere James S. Sutcliffe David Skuse Michael Gill Louise Gallagher Nancy R. Mendell Nick Craddock Michael John Owen Michael O’Donovan Tamim H. Shaikh Ezra Süsser Lynn E. DeLisi Patrick F. Sullivan Curtis K. Deutsch Judith L. Rapoport Deborah L. Levy Mary Claire King Jonathan Sebat published in 2009. It has an Open Access status of “green”. You can read and download a PDF Full Text of this paper here.