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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
Williams, Nigel M.; Franke, Barbara; Mick, Eric; Anney, Richard J. L.; 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; Thuy Trang Nguyen; 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; Nelson, Stanley; Shtir, Corina; Asherson, Philip; Reif, Andreas; Lesch, Klaus-Peter; Faraone, Stephen V.1
刊名AMERICAN JOURNAL OF PSYCHIATRY
2012-02-01
DOI10.1176/appi.ajp.2011.11060822
169期:2页:195-204
收录类别SCI ; SSCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Psychiatry
研究领域[WOS]Psychiatry
关键词[WOS]AUTISM SPECTRUM DISORDER ; DEFICIT/HYPERACTIVITY DISORDER ; MOLECULAR-GENETICS ; ASSOCIATION SCAN ; CHROMOSOMAL DELETIONS ; NICOTINIC RECEPTOR ; CANDIDATE GENE ; SCHIZOPHRENIA ; ADHD ; MICRODUPLICATIONS
英文摘要

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 (<1% population frequency) in children with ADHD (N=896) and comparison subjects (N=2,455) from the IMAGE II Consortium.

Results: The authors observed 1,562 individually 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.

语种英语
WOS记录号WOS:000300121100015
项目编号R13MH059126 ; R01MH62873 ; R01MH081803 ; KFO 125 ; SFB 581 ; GRK 1156 ; ME 1923/5-1 ; ME 1923/5-3 ; GRK 1389 ; 01GV0605
资助机构Novartis ; Shire ; Eli Lilly ; Elminda ; Janssen ; McNeil ; Fundacion Areces (Spain) ; Fundacion Dr. Manuel Camelo A.C., Medice Pharmaceuticals ; Spanish Child Psychiatry Association ; Shionogi Pharma ; Cipher Pharmaceuticals ; Janssen-Cilag ; Vifor ; Alcobra ; NIH ; Pfizer ; Guilford Press ; Oxford University Press ; Affymetrix Power Award ; Wellcome Trust, U.K. ; Action Medical Research UK ; Radboud University Nijmegen Medical Center ; Deutsche Forschungsgemeinschaft ; Bundesministerium fur Bildung und Forschung (BMBF ; Health Research Board Ireland
引用统计
被引频次:121[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/60740
专题北京大学精神卫生研究所
作者单位1.Univ Basel, Inst Psychol, CH-4003 Basel, Switzerland
2.Aarhus Univ Hosp, Aalborg Psychiat Hosp, Aarhus, Denmark
3.Univ Ghent, B-9000 Ghent, Belgium
4.Massachusetts Gen Hosp, Adult ADHD, Boston, MA 02114 USA
5.Harvard Univ, Sch Med, Dept Psychiat, Cambridge, MA 02138 USA
6.Univ Penn, Sch Med, Dept Pediat, Philadelphia, PA 19104 USA
7.Univ Toronto, Dept Mol Genet, Toronto, ON M5S 1A1, Canada
8.Univ Toronto, McLaughlin Ctr, Toronto, ON M5S 1A1, Canada
9.Univ Trier, Inst Psychobiol, Dept Neurobehav Genet, Trier, Germany
10.Vrije Univ Amsterdam, Amsterdam, Netherlands
11.Cardiff Univ, Sch Med, Cardiff, S Glam, Wales
12.Trinity Coll Dublin, Dept Psychiat, Dublin, Ireland
13.Peking Univ, Inst Mental Hlth, Beijing 100871, Peoples R China
14.Cardiff Univ, Med Res Council MRC Ctr Neuropsychiat Genet & Gen, Dept Psychol Med & Neurol, Cardiff, S Glam, Wales
15.Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Donders Inst Brain Cognit & Behav, NL-6525 ED Nijmegen, Netherlands
16.Radboud Univ Nijmegen, Med Ctr, Dept Psychiat, Donders Inst Brain Cognit & Behav, NL-6525 ED Nijmegen, Netherlands
17.Radboud Univ Nijmegen, Med Ctr, Dept Cognit Neurosci, Donders Inst Brain Cognit & Behav, NL-6525 ED Nijmegen, Netherlands
18.Radboud Univ Nijmegen, Med Ctr, Karakter Child & Adolescent Psychiat Univ Ctr, Donders Inst Brain Cognit & Behav, NL-6525 ED Nijmegen, Netherlands
19.Univ Massachusetts, Sch Med, Dept Quantitat Hlth Sci, Worcester, MA USA
20.Goethe Univ Frankfurt, Dept Child & Adolescent Psychiat Psychosomat & Ps, Frankfurt, Germany
21.Univ St Andrews, Sch Med, St Andrews KY16 9AJ, Fife, Scotland
22.SUNY Upstate Med Univ, Dept Psychiat, Syracuse, NY USA
23.SUNY Upstate Med Univ, Dept Neurosci & Physiol, Syracuse, NY USA
24.Univ Marburg, Inst Med Biometry & Epidemiol, Marburg, Germany
25.Univ Wurzburg, ADHD Clin Res Network, Unit Mol Psychiat, Dept Psychiat Psychosomat & Psychotherapy, D-97070 Wurzburg, Germany
26.Univ Hosp Munich, Dept Child & Adolescent Psychiat Psychosomat & Ps, Munich, Germany
27.Saarland Univ Hosp, Dept Child & Adolescent Psychiat, Homburg, Germany
28.Univ Zurich, Dept Child & Adolescent Psychiat, CH-8006 Zurich, Switzerland
29.Univ Queensland, Queensland Brain Inst, Brisbane, Qld, Australia
30.Massachusetts Gen Hosp, Clin Program Pediat Psychopharmacol, Boston, MA 02114 USA
31.Massachusetts Gen Hosp, Res Program Pediat Psychopharmacol, Boston, MA 02114 USA
32.Univ Penn, Sch Med, Dept Psychiat, Philadelphia, PA 19104 USA
33.Childrens Hosp Philadelphia, Dept Child & Adolescent Psychiat, Ctr Appl Genom, Philadelphia, PA 19104 USA
34.Childrens Hosp Philadelphia, Div Genet, Philadelphia, PA 19104 USA
35.Childrens Hosp Philadelphia, Div Pulm Med, Philadelphia, PA 19104 USA
36.Hosp Sick Children, Ctr Appl Genom, Toronto, ON M5G 1X8, Canada
37.Hosp Sick Children, Dept Psychiat Neurosci & Mental Hlth, Toronto, ON M5G 1X8, Canada
38.Washington Univ, Sch Med, Dept Psychiat, St Louis, MO 63130 USA
39.Univ Calif Los Angeles, Dept Psychiat & Biobehav Sci, Semel Inst Neurosci & Human Behav, Los Angeles, CA 90024 USA
40.Univ Calif Los Angeles, Dept Human Genet, Semel Inst Neurosci & Human Behav, Los Angeles, CA USA
41.Univ Calif Los Angeles, Dept Prevent Med, Keck Sch Med, Los Angeles, CA USA
42.Kings Coll London, MRC Social Genet & Dev Psychiat, London, England
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Williams, Nigel M.,Franke, Barbara,Mick, Eric,et al. Genome-Wide Analysis of Copy Number Variants in Attention Deficit Hyperactivity Disorder: The Role of Rare Variants and Duplications at 15q13.3[J]. AMERICAN JOURNAL OF PSYCHIATRY,2012,169(2):195-204.
APA Williams, Nigel M..,Franke, Barbara.,Mick, Eric.,Anney, Richard J. L..,Freitag, Christine M..,...&Faraone, Stephen V..(2012).Genome-Wide Analysis of Copy Number Variants in Attention Deficit Hyperactivity Disorder: The Role of Rare Variants and Duplications at 15q13.3.AMERICAN JOURNAL OF PSYCHIATRY,169(2),195-204.
MLA Williams, Nigel M.,et al."Genome-Wide Analysis of Copy Number Variants in Attention Deficit Hyperactivity Disorder: The Role of Rare Variants and Duplications at 15q13.3".AMERICAN JOURNAL OF PSYCHIATRY 169.2(2012):195-204.
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