Evidence map›Paper›PMID 23164820›Full record

ArticleMolecular psychiatry2014

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

I Jarick, A-L Volckmar, C Pütter, S Pechlivanis, T T Nguyen, M R Dauvermann, S Beck, Ö Albayrak, S Scherag, S Gilsbach and 25 more

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In one paragraph

Article in Molecular psychiatry, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
43citing papers in PubMed, 2 pooled it
4.2field-weighted citation impact, top 6% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

43 citing papers in PubMed, 2 syntheses or guidelines pooled it, 105 citations in OpenAlex.

  1. Pooled it
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  9. Behavioral disorders in Parkinson disease: current view.Journal of neural transmission (Vienna, Austria : 1996) · 2025
    Review
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  14. Genes · 2023
    Article
  15. Attention-deficit/hyperactive disorder updates.Frontiers in molecular neuroscience · 2022
    Review
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  17. Article
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

35 authors at 16 institutions in 3 countries.

I JarickInstitute of Medical Biometry and Epidemiology, University of Marburg, Marburg, Germany.
A-L VolckmarDepartment of Child and Adolescent Psychiatry, University of Duisburg-Essen, Essen, Germany.
C PütterInstitute for Medical Informatics, Biometry and Epidemiology (IMIBE), University of Duisburg-Essen, Essen, Germany.
S PechlivanisInstitute for Medical Informatics, Biometry and Epidemiology (IMIBE), University of Duisburg-Essen, Essen, Germany.
T T NguyenInstitute of Medical Biometry and Epidemiology, University of Marburg, Marburg, Germany.
M R Dauvermann1] Department of Child and Adolescent Psychiatry, University of Duisburg-Essen, Essen, Germany [2] University Hospital of Child and Adolescent Psychiatry, University of Bern, Bern, Switzerland.
S BeckDepartment of Child and Adolescent Psychiatry, University of Duisburg-Essen, Essen, Germany.
Ö AlbayrakDepartment of Child and Adolescent Psychiatry, University of Duisburg-Essen, Essen, Germany.
S ScheragDepartment of Child and Adolescent Psychiatry, University of Duisburg-Essen, Essen, Germany.
S GilsbachDepartment of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, RWTH Aachen University Clinics, Aachen, Germany.
S Cichon1] Institute of Neuroscience and Medicine (INM-1), Structural and Functional Organization of the Brain, Genomic Imaging, Research Center Juelich, Juelich, Germany [2] Institute of Human Genetics, University of Bonn, Bonn, Germany [3] Deptartment of Genomics, Life and Brain Center, University of Bonn, Bonn, Germany.
P Hoffmann1] Institute of Human Genetics, University of Bonn, Bonn, Germany [2] Deptartment of Genomics, Life and Brain Center, University of Bonn, Bonn, Germany.
F Degenhardt1] Institute of Human Genetics, University of Bonn, Bonn, Germany [2] Deptartment of Genomics, Life and Brain Center, University of Bonn, Bonn, Germany.
M M Nöthen1] Institute of Human Genetics, University of Bonn, Bonn, Germany [2] Deptartment of Genomics, Life and Brain Center, University of Bonn, Bonn, Germany [3] German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany.
S SchreiberInstitute of Clinical Molecular Biology, University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany.
H-E WichmannInstitute of Epidemiology, German Research Center for Environmental Health, Helmholtz Center Munich, Neuherberg, Germany.
K-H JöckelInstitute for Medical Informatics, Biometry and Epidemiology (IMIBE), University of Duisburg-Essen, Essen, Germany.
J HeinrichInstitute of Epidemiology, German Research Center for Environmental Health, Helmholtz Center Munich, Neuherberg, Germany.
C M T Tiesler1] Institute of Epidemiology, German Research Center for Environmental Health, Helmholtz Center Munich, Neuherberg, Germany [2] Division of Metabolic Diseases and Nutritional Medicine, Dr von Hauner Children's Hospital, Ludwig-Maximilians-University of Munich, Munich, Germany.
S V FaraoneDepartments of Psychiatry and of Neuroscience and Physiology, SUNY Upstate Medical University, Syracuse, NY, USA.
S WalitzaDepartment of Child and Adolescent Psychiatry, University of Zurich, Zurich, Switzerland.
J Sinzig1] Department for Child and Adolescent Psychiatry, University of Cologne, Cologne, Germany [2] Department for Child and Adolescent Psychiatry and Psychotherapy, LVR-clinic Bonn, Bonn, Germany.
C FreitagDepartment of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, JW Goethe-Universität Frankfurt am Main, Frankfurt am Main, Germany.
J MeyerDepartment of Neurobehavioral Genetics, Institute of Psychobiology, University of Trier, Trier, Germany.
B Herpertz-DahlmannDepartment of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, RWTH Aachen University Clinics, Aachen, Germany.
G LehmkuhlDepartment for Child and Adolescent Psychiatry, University of Cologne, Cologne, Germany.
T J RennerDepartment of Child and Adolescent Psychiatry, University of Wuerzburg, Wuerzburg, Germany.
A WarnkeDepartment of Child and Adolescent Psychiatry, University of Wuerzburg, Wuerzburg, Germany.
M Romanos1] Department of Child and Adolescent Psychiatry, University of Wuerzburg, Wuerzburg, Germany [2] Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University Hospital of Munich, Munich, Germany.
K-P Lesch1] Department of Psychiatry, Psychosomatics and Psychotherapy, Division of Molecular Psychiatry, ADHD Clinical Research Network, Laboratory of Translational Neuroscience, University of Wuerzburg, Wuerzburg, Germany [2] Department of Neuroscience, School for Mental Health and Neuroscience, Maastricht University, Maastricht, The Netherlands.
A ReifDepartment of Psychiatry, Psychosomatics and Psychotherapy, University of Wuerzburg, Wuerzburg, Germany.
B G Schimmelmann1] Department of Child and Adolescent Psychiatry, University of Duisburg-Essen, Essen, Germany [2] University Hospital of Child and Adolescent Psychiatry, University of Bern, Bern, Switzerland.
J HebebrandDepartment of Child and Adolescent Psychiatry, University of Duisburg-Essen, Essen, Germany.
A ScheragInstitute for Medical Informatics, Biometry and Epidemiology (IMIBE), University of Duisburg-Essen, Essen, Germany.
A HinneyDepartment of Child and Adolescent Psychiatry, University of Duisburg-Essen, Essen, Germany.
University of Duisburg-Essen · DEUniversity of Würzburg · DEHelmholtz Zentrum München · DEUniversity of Bonn · DEInstitut für Medizinische Informatik, Biometrie und Epidemiologie · DEPhilipps University of Marburg · DERWTH Aachen University · DEUniversity of Cologne · DEForschungszentrum Jülich · DEGoethe University Frankfurt · DESocial Neuroscience Lab · DESUNY Upstate Medical University · USUniversität Trier · DEUniversity Hospital Schleswig-Holstein · DEUniversity of Bern · CHUniversity of Zurich · CH

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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.

Indexed as

Genetic Predisposition to DiseaseAdolescentAdultAgedAttention Deficit Disorder with HyperactivityChildCommunity Health PlanningDNA Copy Number VariationsFemaleGenome-Wide Association StudyHumansMaleMiddle AgedPolymorphism, Single NucleotideUbiquitin-Protein Ligasesparkin proteinUbiquitin-Protein Ligases

Identifiers

PMID23164820
PMCPMC3873032
OpenAlexW2118988583

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.