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Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder

Elia, Josephine and Glessner, Joseph T. and Wang, Kai and Takahashi, Nagahide and Shtir, Corina J. and Hadley, Dexter and Sleiman, Patrick M. A. and Zhang, Haitao and Kim, Cecilia E. and Robison, Reid and Lyon, Gholson J. and Flory, James H. and Bradfield, Jonathan P. and Imielinski, Marcin and Hou, Cuiping and Frackelton, Edward C. and Chiavacci, Rosetta M. and Sakurai, Takeshi and Rabin, Cara and Middleton, Frank A. and Thomas, Kelly A. and Garris, Maria and Mentch, Frank and Freitag, Christine M. and Steinhausen, Hans-Christoph and Todorov, Alexandre A. and Reif, Andreas and Rothenberger, Aribert and Franke, Barbara and Mick, Eric O. and Roeyers, Herbert and Buitelaar, Jan and Lesch, Klaus-Peter and Banaschewski, Tobias and Ebstein, Richard P. and Mulas, Fernando and Oades, Robert D. and Sergeant, Joseph and Sonuga-Barke, Edmund and Renner, Tobias J. and Romanos, Marcel and Romanos, Jasmin and Warnke, Andreas and Walitza, Susanne and Meyer, Jobst and Pálmason, Haukur and Seitz, Christiane and Loo, Sandra K. and Smalley, Susan L. and Biederman, Joseph and Kent, Lindsey and Asherson, Philip and Anney, Richard J. L. and Gaynor, J. William and Shaw, Philip and Devoto, Marcella and White, Peter S. and Grant, Struan F. A. and Buxbaum, Joseph D. and Rapoport, Judith L. and Williams, Nigel M. and Nelson, Stanley F. and Faraone, Stephen V. and Hakonarson, Hakon. (2012) Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder. Nature genetics, Vol. 44, H. 1. pp. 78-84.

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Official URL: http://edoc.unibas.ch/dok/A6254485

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Abstract

Attention deficit hyperactivity disorder (ADHD) is a common, heritable neuropsychiatric disorder of unknown etiology. We performed a whole-genome copy number variation (CNV) study on 1,013 cases with ADHD and 4,105 healthy children of European ancestry using 550,000 SNPs. We evaluated statistically significant findings in multiple independent cohorts, with a total of 2,493 cases with ADHD and 9,222 controls of European ancestry, using matched platforms. CNVs affecting metabotropic glutamate receptor genes were enriched across all cohorts (P = 2.1 × 10(-9)). We saw GRM5 (encoding glutamate receptor, metabotropic 5) deletions in ten cases and one control (P = 1.36 × 10(-6)). We saw GRM7 deletions in six cases, and we saw GRM8 deletions in eight cases and no controls. GRM1 was duplicated in eight cases. We experimentally validated the observed variants using quantitative RT-PCR. A gene network analysis showed that genes interacting with the genes in the GRM family are enriched for CNVs in ∼10% of the cases (P = 4.38 × 10(-10)) after correction for occurrence in the controls. We identified rare recurrent CNVs affecting glutamatergic neurotransmission genes that were overrepresented in multiple ADHD cohorts.
UniBasel Contributors:Steinhausen, Hans-Christoph
Item Type:Article, refereed
Article Subtype:Research Article
Bibsysno:Link to catalogue
Publisher:Nature Publ
ISSN:1061-4036
Note:Publication type according to Uni Basel Research Database: Journal article
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Last Modified:23 May 2014 08:34
Deposited On:23 May 2014 08:34

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