Evidence map›Paper›PMID 30518751›Full record

ArticleTranslational psychiatry2018

Identification of potential genetic risk factors for bipolar disorder by whole-exome sequencing.

Thomas Husson, Jean-Baptiste Duboc, Olivier Quenez, Camille Charbonnier, Maud Rotharmel, Macarena Cuenca, Xavier Jegouzo, Anne-Claire Richard, Thierry Frebourg, Jean-François Deleuze and 8 more

Open access · goldAbstract read
In one paragraph

Article in Translational psychiatry, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed, 2 pooled it
1.5field-weighted citation impact, top 17% 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

9 citing papers in PubMed, 2 syntheses or guidelines pooled it, 19 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Review
  4. Bipolar Disorder.Current opinion in neurobiology · 2023
    Review
  5. dbBIP: a comprehensive bipolar disorder database for genetic research.Database : the journal of biological databases and curation · 2022
    Article
  6. Review
  7. Article
  8. Review
  9. Article
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

18 authors at 4 institutions in 1 country.

Thomas HussonDepartment of Research, Centre hospitalier du Rouvray, Sotteville-lès-Rouen, France.ORCID http://orcid.org/0000-0002-4088-5021
Jean-Baptiste DubocDepartment of Research, Centre hospitalier du Rouvray, Sotteville-lès-Rouen, France.
Olivier QuenezDepartment of Genetics, Normandy Centre for Genomic and Personalized Medicine, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, F 76000, Rouen, France.
Camille CharbonnierDepartment of Genetics, Normandy Centre for Genomic and Personalized Medicine, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, F 76000, Rouen, France.
Maud RotharmelDepartment of Research, Centre hospitalier du Rouvray, Sotteville-lès-Rouen, France.
Macarena CuencaDepartment of Research, Centre hospitalier du Rouvray, Sotteville-lès-Rouen, France.
Xavier JegouzoDepartment of Research, Centre hospitalier du Rouvray, Sotteville-lès-Rouen, France.
Anne-Claire RichardDepartment of Genetics, Normandy Centre for Genomic and Personalized Medicine, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, F 76000, Rouen, France.
Thierry FrebourgDepartment of Genetics, Normandy Centre for Genomic and Personalized Medicine, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, F 76000, Rouen, France.
Jean-François DeleuzeCentre National de Recherche en Génomique Humaine, Institut de Génomique, CEA, Evry, France.
Anne BolandCentre National de Recherche en Génomique Humaine, Institut de Génomique, CEA, Evry, France.
Emmanuelle GeninInserm UMR-1078, CHRU Brest, Univ. Brest, Brest, France.
Stéphanie DebetteUniv. Bordeaux, Inserm, Bordeaux Population Health Research Center, UMR1219, F-33076, Bordeaux, France.
Christophe TzourioUniv. Bordeaux, Inserm, Bordeaux Population Health Research Center, UMR1219, F-33076, Bordeaux, France.
Dominique CampionDepartment of Research, Centre hospitalier du Rouvray, Sotteville-lès-Rouen, France.
Gaël NicolasDepartment of Genetics, Normandy Centre for Genomic and Personalized Medicine, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, F 76000, Rouen, France.
Olivier GuillinDepartment of Research, Centre hospitalier du Rouvray, Sotteville-lès-Rouen, France. olivier.guillin@ch-lerouvray.fr.
FREX Consortium
Inserm · FRCentre Hospitalier du Rouvray · FRCommissariat à l'Énergie Atomique et aux Énergies Alternatives · FRUniversité de Bordeaux · FR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

This study aims at assessing the burden of rare (minor allele frequency < 1%) predicted damaging variants in the whole exome of 92 bipolar I disorder (BD) patients and 1051 controls of French ancestry. Patients exhibiting an extreme phenotype (earlier onset and family history of mood disorder) were preferentially included to increase the power to detect an association. A collapsing strategy was used to test the overall burden of rare variants in cases versus controls at the gene level. Only protein-truncating and predicted damaging missense variants were included in the analysis. Thirteen genes exhibited p values exceeding 10

Indexed as

Genetic Predisposition to DiseaseAdolescentAdultAgedAged, 80 and overBipolar DisorderExome SequencingFemaleFranceGene FrequencyHumansMaleMiddle AgedMutation, MissenseRisk FactorsWhite People

Identifiers

PMID30518751
PMCPMC6281607
OpenAlexW2902439638

What OpenQuestion holds

Textmetadata
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.