 |
Journal articles
Identification of potential genetic risk factors for bipolar disorder by whole-exome sequencing
Thomas Husson
1, 2
Jean-Baptiste Duboc
1
Olivier Quenez
2
Camille Charbonnier
2
Maud Rothärmel
2
Macarena Cuenca
1
Xavier Jégouzo
1
Anne-Claire Richard
2
Thierry Frebourg
2
Jean-François Deleuze
3
Anne Boland
3
Emmanuelle Génin
4
Stéphanie Debette
5
Christophe Tzourio
5
Dominique Campion
6, 2
Gaël Nicolas
1, 2
Olivier Guillin
2
Thomas Husson 1, 2
Author
Jean-Baptiste Duboc 1
Author
Olivier Quenez 2
Author IdHAL : olivier-quenez ORCID : https://orcid.org/0000-0002-8273-8505
Camille Charbonnier 2
Author
Maud Rothärmel 2
Author
Macarena Cuenca 1
Author
Xavier Jégouzo 1
Author
Anne-Claire Richard 2
Author
Thierry Frebourg 2
Author
Jean-François Deleuze 3
Author
Anne Boland 3
Author
Emmanuelle Génin 4
Author IdHAL : emmanuelle-genin ORCID : https://orcid.org/0000-0003-4117-2813
Stéphanie Debette 5
Author
Christophe Tzourio 5
Author
Dominique Campion 6, 2
Author
Gaël Nicolas 1, 2
Author IdHAL : gael-nicolas1 ORCID : https://orcid.org/0000-0001-9391-7800
Olivier Guillin 2
Author
1
UNIROUEN UFR Santé - UNIROUEN - UFR Santé (22 boulevard Gambetta - CS 76183 - 76183 Rouen cedex 1 - France)
- UNIROUEN - Université de Rouen Normandie (1, rue Thomas Becket 76821 Mont-Saint-Aignan Cedex - France)
- NU - Normandie Université (Esplanade de la Paix - CS 14032 - 14032 Caen Cedex 5 - France)
2
GPMCND - Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques (22, Boulevard Gambetta 76183 Rouen Cedex - France)
- UNIROUEN - Université de Rouen Normandie (1, rue Thomas Becket 76821 Mont-Saint-Aignan Cedex - France)
- NU - Normandie Université (Esplanade de la Paix - CS 14032 - 14032 Caen Cedex 5 - France)
- INSERM - Institut National de la Santé et de la Recherche Médicale : U1245 (101, rue de Tolbiac, 75013 Paris - France)
3
CNG - Centre National de Génotypage (Centre National de Génotypage 2 rue Gaston Crémieux CP5721 91057 EVRY Cedex - France)
- CEA - Commissariat à l'énergie atomique et aux énergies alternatives : DSV/IG (Centre de Saclay Centre de Grenoble Centre de Cadarache etc - France)
4
GGB - Génétique, génomique fonctionnelle et biotechnologies (UMR 1078) (UFR Médecine
22 avenue Camille Desmoulins
29238 BREST Cedex 3 - France)
- IBSAM - Institut Brestois Santé Agro Matière (Université de Brest- UBO
29238 Brest - France)
- UBO - Université de Brest (Université de Bretagne Occidentale - 3 Rue des Archives 29238, Brest - France)
- EFS (France)
- UBO - Université de Brest (Université de Bretagne Occidentale - 3 Rue des Archives 29238, Brest - France)
- INSERM - Institut National de la Santé et de la Recherche Médicale : U1078 (101, rue de Tolbiac, 75013 Paris - France)
5
BPH - Bordeaux population health (Université de Bordeaux - Case 11 - 146 rue Léo Saignat 33076 Bordeaux cedex - France)
- UB - Université de Bordeaux (35, place Pey Berland - 33076 Bordeaux - France)
- Institut de Santé Publique, d'Épidémiologie et de Développement (ISPED) (France)
- INSERM - Institut National de la Santé et de la Recherche Médicale : U1219 (101, rue de Tolbiac, 75013 Paris - France)
6
Department of Research, Centre hospitalier du Rouvray, Sotteville-lès-Rouen, France (Sotteville-lès-Rouen - France)
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 10−3 and could be considered as potential risk factors for BD. Furthermore, the validity of the association was supported when the Exome Aggregation Consortium database non-Finnish European population was used as controls for eight of them. Their gene products are involved in various cerebral processes, some of which were previously implicated in BD and belong to pathways implicated in the therapeutic effect of lithium, the main mood stabilizer. However, exome-wide threshold for association study was not reached, emphasizing that larger samples are needed.
Document type :
Journal articles
Domain :
Complete list of metadata
https://hal-normandie-univ.archives-ouvertes.fr/hal-02540043
Contributor : Nathalie Porchet Connect in order to contact the contributor
Submitted on : Friday, April 10, 2020 - 3:54:09 PM
Last modification on : Tuesday, October 19, 2021 - 4:17:40 PM
Contributor : Nathalie Porchet Connect in order to contact the contributor
Submitted on : Friday, April 10, 2020 - 3:54:09 PM
Last modification on : Tuesday, October 19, 2021 - 4:17:40 PM
Links full text
Identifiers
- HAL Id : hal-02540043, version 1
- DOI : 10.1038/s41398-018-0291-7
Collections
Citation
Thomas Husson, Jean-Baptiste Duboc, Olivier Quenez, Camille Charbonnier, Maud Rothärmel, et al.. Identification of potential genetic risk factors for bipolar disorder by whole-exome sequencing. Translational Psychiatry, Nature Pub. Group, 2018, 8 (1), pp.268. ⟨10.1038/s41398-018-0291-7⟩. ⟨hal-02540043⟩
Metrics
Record views
