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  Genome-wide copy number variation analysis in attention-deficit/hyperactivity disorder: association with neuropeptide Y gene dosage in an extended pedigree

Lesch, K. P., Selch, S., Renner, T. J., Jacob, C., Nguyen, T. T., Hahn, T., et al. (2011). Genome-wide copy number variation analysis in attention-deficit/hyperactivity disorder: association with neuropeptide Y gene dosage in an extended pedigree. Mol Psychiatry, 16(5), 491-503. Retrieved from http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=20308990 http://www.nature.com/mp/journal/v16/n5/pdf/mp201029a.pdf.

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Lesch, K. P., Autor
Selch, S., Autor
Renner, T. J., Autor
Jacob, C., Autor
Nguyen, T. T., Autor
Hahn, T., Autor
Romanos, M., Autor
Walitza, S., Autor
Shoichet, S., Autor
Dempfle, A., Autor
Heine, M., Autor
Boreatti-Hummer, A., Autor
Romanos, J., Autor
Gross-Lesch, S., Autor
Zerlaut, H., Autor
Wultsch, T., Autor
Heinzel, S., Autor
Fassnacht, M., Autor
Fallgatter, A., Autor
Allolio, B., Autor
Schafer, H., AutorWarnke, A., AutorReif, A., AutorRopers, H. H.1, Autor           Ullmann, R.2, Autor            mehr..
Affiliations:
1Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
2Molecular Cytogenetics (Reinhard Ullmann), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479645              

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Schlagwörter: Adolescent; Attention Deficit Disorder with Hyperactivity/*genetics/pathology; Brain/blood supply/pathology; Child; Chromosome Mapping/methods; Chromosomes, Human, Pair 7/genetics; Cohort Studies; Comparative Genomic Hybridization/methods; DNA Copy Number Variations/*genetics; Family Health; Female; Gene Dosage/*genetics; Genome-Wide Association Study/methods; Humans; Image Processing, Computer-Assisted; Magnetic Resonance Imaging/methods; Male; Neuropeptide Y/blood/*genetics; Oxygen/blood; *Pedigree; Phenotype
 Zusammenfassung: Attention-deficit/hyperactivity disorder (ADHD) is a common, highly heritable neurodevelopmental syndrome characterized by hyperactivity, inattention and increased impulsivity. To detect micro-deletions and micro-duplications that may have a role in the pathogenesis of ADHD, we carried out a genome-wide screen for copy number variations (CNVs) in a cohort of 99 children and adolescents with severe ADHD. Using high-resolution array comparative genomic hybridization (aCGH), a total of 17 potentially syndrome-associated CNVs were identified. The aberrations comprise 4 deletions and 13 duplications with approximate sizes ranging from 110 kb to 3 Mb. Two CNVs occurred de novo and nine were inherited from a parent with ADHD, whereas five are transmitted by an unaffected parent. Candidates include genes expressing acetylcholine-metabolizing butyrylcholinesterase (BCHE), contained in a de novo chromosome 3q26.1 deletion, and a brain-specific pleckstrin homology domain-containing protein (PLEKHB1), with an established function in primary sensory neurons, in two siblings carrying a 11q13.4 duplication inherited from their affected mother. Other genes potentially influencing ADHD-related psychopathology and involved in aberrations inherited from affected parents are the genes for the mitochondrial NADH dehydrogenase 1 alpha subcomplex assembly factor 2 (NDUFAF2), the brain-specific phosphodiesterase 4D isoform 6 (PDE4D6) and the neuronal glucose transporter 3 (SLC2A3). The gene encoding neuropeptide Y (NPY) was included in a approximately 3 Mb duplication on chromosome 7p15.2-15.3, and investigation of additional family members showed a nominally significant association of this 7p15 duplication with increased NPY plasma concentrations (empirical family-based association test, P=0.023). Lower activation of the left ventral striatum and left posterior insula during anticipation of large rewards or losses elicited by functional magnetic resonance imaging links gene dose-dependent increases in NPY to reward and emotion processing in duplication carriers. These findings implicate CNVs of behaviour-related genes in the pathogenesis of ADHD and are consistent with the notion that both frequent and rare variants influence the development of this common multifactorial syndrome.

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 Datum: 2011
 Publikationsstatus: Erschienen
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Titel: Mol Psychiatry
Genre der Quelle: Zeitschrift
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Ort, Verlag, Ausgabe: -
Seiten: - Band / Heft: 16 (5) Artikelnummer: - Start- / Endseite: 491 - 503 Identifikator: ISSN: 1476-5578 (Electronic) 1359-4184 (Linking)