PuSH - Publication Server of Helmholtz Zentrum München: Genome-wide analysis of rare copy number variations reveals <em>PARK2</em> as a candidate gene for attention-deficit/hyperactivity disorder.

Information

Clues to quality of journals

Open Access Policy of Helmholtz Association 2016

CC Licencences

Publication Metrics

Navigation

Home

Deutsch

EVA: Electronic Publishing

New EVA Application

Research

Advanced Search

Browse by ...

... HMGU-Authors/Consortia

... Organizational Structure

... Journal

... Publication Type

... Research Data

... Arbeitsgruppen

... Publication Year

Publication overview

Statistics

Statistics (last 5 years)

OA Publications

Publish

Submit Publication

Import publication from...

...EVA

Report missing publication

Highlights

Support & Contact

Contact persons

Help

Data protection

Helmholtz Open Science

JANE Journal Estimator

SHERPA/RoMEO

DOAJ

Export:

Text

Endnote (RIS) BIB

BibTeX

Jarick, I.* ; Volckmar, A.L.* ; Pütter, C.* ; Pechlivanis, S.* ; Nguyen, T.T.* ; Dauvermann, M.R.* ; Beck, S.* ; Albayrak, Ö.* ; Scherag, S.* ; Gilsbach, S.* ; Cichon, S.* ; Hoffmann, P.* ; Degenhardt, F.* ; Nöthen, M.M.* ; Schreiber, S.* ; Wichmann, H.-E. ; Jöckel, K.-H.* ; Heinrich, J. ; Tiesler, C.M. ; Faraone, S.V.* ; Walitza, S.* ; Sinzig, J.* ; Freitag, C.* ; Meyer, J.* ; Herpertz-Dahlmann, B.* ; Lehmkuhl, G.* ; Renner, T.J.* ; Warnke, A.* ; Romanos, M.* ; Lesch, K.P.* ; Reif, A.* ; Schimmelmann, B.G.* ; Hebebrand, J.* ; Scherag, A.* ; Hinney, A.*

Genome-wide analysis of rare copy number variations reveals PARK2 as a candidate gene for attention-deficit/hyperactivity disorder.

Mol. Psychiatry 19, 115–121 (2014)

Publ. Version/Full Text Volltext

DOI

PMC

	Open Access Hybrid

Abstract
Metrics
Extra information

Attention-deficit/hyperactivity disorder (ADHD) is a common, highly heritable neurodevelopmental disorder. Genetic loci have not yet been identified by genome-wide association studies. Rare copy number variations (CNVs), such as chromosomal deletions or duplications, have been implicated in ADHD and other neurodevelopmental disorders. To identify rare (frequency 1%) CNVs that increase the risk of ADHD, we performed a whole-genome CNV analysis based on 489 young ADHD patients and 1285 adult population-based controls and identified one significantly associated CNV region. In tests for a global burden of large (>500 kb) rare CNVs, we observed a nonsignificant (P=0.271) 1.126-fold enriched rate of subjects carrying at least one such CNV in the group of ADHD cases. Locus-specific tests of association were used to assess if there were more rare CNVs in cases compared with controls. Detected CNVs, which were significantly enriched in the ADHD group, were validated by quantitative (q)PCR. Findings were replicated in an independent sample of 386 young patients with ADHD and 781 young population-based healthy controls. We identified rare CNVs within the parkinson protein 2 gene (PARK2) with a significantly higher prevalence in ADHD patients than in controls (P=2.8 × 10(-4) after empirical correction for genome-wide testing). In total, the PARK2 locus (chr 6: 162 659 756-162 767 019) harboured three deletions and nine duplications in the ADHD patients and two deletions and two duplications in the controls. By qPCR analysis, we validated 11 of the 12 CNVs in ADHD patients (P=1.2 × 10(-3) after empirical correction for genome-wide testing). In the replication sample, CNVs at the PARK2 locus were found in four additional ADHD patients and one additional control (P=4.3 × 10(-2)). Our results suggest that copy number variants at the PARK2 locus contribute to the genetic susceptibility of ADHD. Mutations and CNVs in PARK2 are known to be associated with Parkinson disease.

Impact Factor

Scopus SNIP

Web of Science
Times Cited

Scopus
Cited By

Altmetric

13.668

2.750