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dc.contributor.authorWilliams, Nigel M.
dc.contributor.authorFranke, Barbara
dc.contributor.authorMick, Eric O.
dc.contributor.authorAnney, Richard J.
dc.contributor.authorFreitag, Christine M.
dc.contributor.authorGill, Michael
dc.contributor.authorThapar, Anita
dc.contributor.authorO'Donovan, Michael C.
dc.contributor.authorOwen, Michael J.
dc.contributor.authorHolmans, Peter
dc.contributor.authorKent, Lindsey
dc.contributor.authorMiddleton, Frank
dc.contributor.authorZhang-James, Yanli
dc.contributor.authorLiu, Lu
dc.contributor.authorMeyer, Jobst
dc.contributor.authorNguyen, Thuy Trang
dc.contributor.authorRomanos, Jasmin
dc.contributor.authorromanos, Marcel
dc.contributor.authorSeitz, Christiane
dc.contributor.authorRenner, Tobias J.
dc.contributor.authorWalitza, Susanne
dc.contributor.authorWarnke, Andreas
dc.contributor.authorPalmason, Haukur
dc.contributor.authorBuitelaar, Jan
dc.contributor.authorRommelse, Nanda
dc.contributor.authorVasquez, Alejandro Arias
dc.contributor.authorHawi, Ziarih
dc.contributor.authorLangley, Kate
dc.contributor.authorSergeant, Joseph
dc.contributor.authorSteinhausen, Hans-Christoph
dc.contributor.authorRoeyers, Herbert
dc.contributor.authorBiederman, Joseph
dc.contributor.authorZaharieva, Irina
dc.contributor.authorHakonarson, Hakon
dc.contributor.authorElia, Josephine
dc.contributor.authorLionel, Anath C.
dc.contributor.authorCrosbie, Jennifer
dc.contributor.authorMarshall, Christian R.
dc.contributor.authorSchachar, Russell
dc.contributor.authorScherer, Stephen W.
dc.contributor.authorTodorov, Alexandre
dc.contributor.authorSmalley, Susan L.
dc.contributor.authorLoo, Sandra K.
dc.contributor.authorNelson, Stanley
dc.contributor.authorShtir, Corina
dc.contributor.authorAsherson, Philip
dc.contributor.authorReif, Andreas
dc.contributor.authorLesch, Klaus-Peter
dc.contributor.authorFaraone, Stephen V.
dc.date2022-08-11T08:10:33.000
dc.date.accessioned2022-08-23T17:12:47Z
dc.date.available2022-08-23T17:12:47Z
dc.date.issued2012-02-01
dc.date.submitted2012-10-23
dc.identifier.citationAm J Psychiatry. 2012 Feb;169(2):195-204.
dc.identifier.issn0002-953X (Linking)
dc.identifier.doi10.1176/appi.ajp.2011.11060822
dc.identifier.pmid22420048
dc.identifier.urihttp://hdl.handle.net/20.500.14038/46581
dc.description.abstractOBJECTIVE: 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.
dc.language.isoen_US
dc.relation<a href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed&cmd=Retrieve&list_uids=22420048&dopt=Abstract">Link to Article in PubMed</a>
dc.relation.urlhttps://doi.org/10.1176/appi.ajp.2011.11060822
dc.subjectAdolescent
dc.subject*Attention Deficit Disorder with Hyperactivity
dc.subjectCanada
dc.subjectCausality
dc.subjectChild
dc.subjectChild, Preschool
dc.subjectFemale
dc.subject*Gene Dosage
dc.subjectGenetic Predisposition to Disease
dc.subjectGenome-Wide Association Study
dc.subjectGreat Britain
dc.subjectHumans
dc.subjectIn Situ Hybridization, Fluorescence
dc.subjectInheritance Patterns
dc.subjectPolymorphism, Single Nucleotide
dc.subjectReceptors, Nicotinic
dc.subjectSegmental Duplications, Genomic
dc.subjectUnited States
dc.subjectGenetics and Genomics
dc.subjectPsychiatry and Psychology
dc.titleGenome-wide analysis of copy number variants in attention deficit hyperactivity disorder: the role of rare variants and duplications at 15q13.3
dc.typeJournal Article
dc.source.journaltitleThe American journal of psychiatry
dc.source.volume169
dc.source.issue2
dc.identifier.legacycoverpagehttps://escholarship.umassmed.edu/qhs_pp/1047
dc.identifier.contextkey3418843
html.description.abstract<p>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.</p> <p>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.</p> <p>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.</p>
dc.identifier.submissionpathqhs_pp/1047
dc.contributor.departmentDepartment of Quantitative Health Sciences
dc.source.pages195-204


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