Evidence map›Paper›PMID 35052433›Full record

ArticleGenes2021

Exploring the Contribution to ADHD of Genes Involved in Mendelian Disorders Presenting with Hyperactivity and/or Inattention.

Noèlia Fernàndez-Castillo, Judit Cabana-Domínguez, Djenifer B Kappel, Bàrbara Torrico, Heike Weber, Klaus-Peter Lesch, Oscar Lao, Andreas Reif, Bru Cormand

Open access · goldAbstract read
In one paragraph

Article in Genes, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
0.8field-weighted citation impact, top 29% 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

7 citing papers in PubMed, 8 citations in OpenAlex.

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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

9 authors at 6 institutions in 5 countries.

Noèlia Fernàndez-CastilloDepartament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona, 08028 Barcelona, Spain.
Judit Cabana-DomínguezDepartament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona, 08028 Barcelona, Spain.ORCID 0000-0002-4732-7284
Djenifer B KappelDivision of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff CF10 3AT, UK.
Bàrbara TorricoDepartament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona, 08028 Barcelona, Spain.
Heike WeberDepartment of Psychiatry, Psychosomatic Medicine and Psychotherapy, University Hospital Frankfurt, 60590 Frankfurt, Germany.
Klaus-Peter LeschDivision of Molecular Psychiatry, Center of Mental Health, University of Würzburg, 97080 Wurzburg, Germany.
Oscar LaoCNAG-CRG, Centre for Genomic Regulation (CRG), 08028 Barcelona, Spain.
Andreas ReifDepartment of Psychiatry, Psychosomatic Medicine and Psychotherapy, University Hospital Frankfurt, 60590 Frankfurt, Germany.
Bru CormandDepartament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona, 08028 Barcelona, Spain.ORCID 0000-0001-5318-4382
Instituto de Salud Carlos III · ESGoethe University Frankfurt · DECardiff University · GBSechenov University · RUUniversitat Autònoma de Barcelona · ESUniversitat Pompeu Fabra · ES

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Attention-deficit hyperactivity disorder (ADHD) is a complex neurodevelopmental disorder characterized by hyperactivity, impulsivity, and/or inattention, which are symptoms also observed in many rare genetic disorders. We searched for genes involved in Mendelian disorders presenting with ADHD symptoms in the Online Mendelian Inheritance in Man (OMIM) database, to curate a list of new candidate risk genes for ADHD. We explored the enrichment of functions and pathways in this gene list, and tested whether rare or common variants in these genes are associated with ADHD or with its comorbidities. We identified 139 genes, causal for 137 rare disorders, mainly related to neurodevelopmental and brain function. Most of these Mendelian disorders also present with other psychiatric traits that are often comorbid with ADHD. Using whole exome sequencing (WES) data from 668 ADHD cases, we found rare variants associated with the dimension of the severity of inattention symptoms in three genes:

Indexed as

Genetic MarkersAdolescentAdultAgedAttention Deficit Disorder with HyperactivityCase-Control StudiesComorbidityExome SequencingFemaleHumansMaleMiddle AgedPhenotypePneumonia, AspirationYoung AdultGenetic MarkersADHDgenetic variantsrare mendelian disorders

Identifiers

PMID35052433
PMCPMC8775234
OpenAlexW4205613150

What OpenQuestion holds

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LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.