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    Genome-wide analysis of copy number variants in attention deficit hyperactivity disorder: the role of rare variants and duplications at 15q13.3

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    Authors
    Williams, Nigel M.
    Franke, Barbara
    Mick, Eric
    Anney, Richard J.
    Freitag, Christine M.
    Gill, Michael
    Thapar, Anita
    O'Donovan, Michael C.
    Owen, Michael J.
    Holmans, Peter
    Kent, Lindsey
    Middleton, Frank
    Zhang-James, Yanli
    Liu, Lu
    Meyer, Jobst
    Nguyen, Thuy Trang
    Romanos, Jasmin
    romanos, Marcel
    Seitz, Christiane
    Renner, Tobias J.
    Walitza, Susanne
    Warnke, Andreas
    Palmason, Haukur
    Buitelaar, Jan
    Rommelse, Nanda
    Vasquez, Alejandro Arias
    Hawi, Ziarih
    Langley, Kate
    Sergeant, Joseph
    Steinhausen, Hans-Christoph
    Roeyers, Herbert
    Biederman, Joseph
    Zaharieva, Irina
    Hakonarson, Hakon
    Elia, Josephine
    Lionel, Anath C.
    Crosbie, Jennifer
    Marshall, Christian R.
    Schachar, Russell
    Scherer, Stephen W.
    Todorov, Alexandre
    Smalley, Susan L.
    Loo, Sandra K.
    Nelson, Stanley
    Shtir, Corina
    Asherson, Philip
    Reif, Andreas
    Lesch, Klaus-Peter
    Faraone, Stephen V.
    Show allShow less
    UMass Chan Affiliations
    Department of Quantitative Health Sciences
    Document Type
    Journal Article
    Publication Date
    2012-02-01
    Keywords
    Adolescent
    *Attention Deficit Disorder with Hyperactivity
    Canada
    Causality
    Child
    Child, Preschool
    Female
    *Gene Dosage
    Genetic Predisposition to Disease
    Genome-Wide Association Study
    Great Britain
    Humans
    In Situ Hybridization, Fluorescence
    Inheritance Patterns
    Polymorphism, Single Nucleotide
    Receptors, Nicotinic
    Segmental Duplications, Genomic
    United States
    Genetics and Genomics
    Psychiatry and Psychology
    Show allShow less
    
    Metadata
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    Link to Full Text
    https://doi.org/10.1176/appi.ajp.2011.11060822
    Abstract
    OBJECTIVE: Attention deficit hyperactivity disorder (ADHD) is a common, highly heritable psychiatric disorder. Because of its multifactorial etiology, however, identifying the genes involved has been difficult. The authors followed up on recent findings suggesting that rare copy number variants (CNVs) may be important for ADHD etiology. METHOD: The authors performed a genome-wide analysis of large, rare CNVs (100 kb in size, which segregated into 912 independent loci. Overall, the rate of rare CNVs >100 kb was 1.15 times higher in ADHD case subjects relative to comparison subjects, with duplications spanning known genes showing a 1.2-fold enrichment. In accordance with a previous study, rare CNVs >500 kb showed the greatest enrichment (1.28-fold). CNVs identified in ADHD case subjects were significantly enriched for loci implicated in autism and in schizophrenia. Duplications spanning the CHRNA7 gene at chromosome 15q13.3 were associated with ADHD in single-locus analysis. This finding was consistently replicated in an additional 2,242 ADHD case subjects and 8,552 comparison subjects from four independent cohorts from the United Kingdom, the United States, and Canada. Presence of the duplication at 15q13.3 appeared to be associated with comorbid conduct disorder. CONCLUSIONS: These findings support the enrichment of large, rare CNVs in ADHD and implicate duplications at 15q13.3 as a novel risk factor for ADHD. With a frequency of 0.6% in the populations investigated and a relatively large effect size (odds ratio=2.22, 95% confidence interval=1.5-3.6), this locus could be an important contributor to ADHD etiology.
    Source
    Am J Psychiatry. 2012 Feb;169(2):195-204.
    DOI
    10.1176/appi.ajp.2011.11060822
    Permanent Link to this Item
    http://hdl.handle.net/20.500.14038/46581
    PubMed ID
    22420048
    Related Resources
    Link to Article in PubMed
    ae974a485f413a2113503eed53cd6c53
    10.1176/appi.ajp.2011.11060822
    Scopus Count
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