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Journal articles
Genome wide association study of incomplete hippocampal inversion in adolescents
Claire Cury
1
Marzia Scelsi
1
Roberto Toro
2
Vincent Frouin
3
Eric Artiges
4
Andreas Heinz
5
Herve Lemaitre
6
Jean-Luc Martinot
4
Jean-Baptiste Poline
7
Michael N Smolka
8
Henrik Walter
5
Gunter Schumann
9
Andre Altmann
1
Olivier Colliot
10
10
ARAMIS - Algorithms, models and methods for images and signals of the human brain
SU - Sorbonne Université, Inria de Paris, ICM - Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute
Claire Cury 1
Author IdHAL : claire-cury ORCID : https://orcid.org/0000-0002-9903-7940
Marzia Antonella Scelsi 1
Author
Roberto Toro 2
Author IdHAL : robertotoro ORCID : https://orcid.org/0000-0002-6671-858X
Vincent Frouin 3
Author IdHAL : vincent-ejm-frouin ORCID : https://orcid.org/0000-0001-9360-6623
Jean-Baptiste Poline 7
Author
Michael N Smolka 8
Author
Henrik Walter 5
Author
Gunter Schumann 9
Author
Andre Altmann 1
Author
Olivier Colliot 10
Author IdHAL : olivier-colliot ResearcherId : http://www.researcherid.com/rid/B-2092-2012 ORCID : https://orcid.org/0000-0002-9836-654X arXiv : https://arxiv.org/a/olivier.colliot
1
CMIC - Centre for Medical Image Computing (Centre for Medical Image Computing The Malet Place Engineering Building University College London Gower Street London WC1E 6BT - United Kingdom)
- UCL - University College of London [London] (Gower Street, London WC1E 6BT - United Kingdom)
2
GHFC (UMR_3571 / U-Pasteur_1) - Génétique humaine et fonctions cognitives - Human Genetics and Cognitive Functions (C3BI / Département de Neuroscience - 25-28, rue du docteur Roux, 75724 Paris cedex 15 - France)
- Institut Pasteur [Paris] (25-28, rue du docteur Roux, 75724 Paris cedex 15 - France)
- CNRS - Centre National de la Recherche Scientifique : UMR_3571 (France)
- UP - Université de Paris : U-Pasteur_1 (85 boulevard Saint-Germain 75006 Paris - France)
3
NEUROSPIN - Service NEUROSPIN (France)
- DRF (CEA) - Direction de Recherche Fondamentale (CEA) : DRF/JOLIOT (Direction de Recherche Fondamentale
Fundamental Research Division
CEA Saclay
91191 Gif-sur-Yvette
- France)
- CEA - Commissariat à l'énergie atomique et aux énergies alternatives (Centre de Saclay Centre de Grenoble Centre de Cadarache etc - France)
- Université Paris-Saclay (Espace Technologique, Bat. Discovery - RD 128 - 2e ét., 91190 Saint-Aubin - France)
4
U1000 - Neuroimagerie en psychiatrie (CEA - Service Hospitalier Frédéric Joliot 4, place du Général Leclerc 91401 Orsay Cedex - France)
- UP11 - Université Paris-Sud - Paris 11 (Bâtiment 300 - 91405 Orsay cedex - France)
- CEA - Commissariat à l'énergie atomique et aux énergies alternatives : UMR_S 1000 (Centre de Saclay Centre de Grenoble Centre de Cadarache etc - France)
- INSERM - Institut National de la Santé et de la Recherche Médicale : U1000 (101, rue de Tolbiac, 75013 Paris - France)
5
Department of Psychiatry and Psychotherapy [Berlin] (Campus Charité Mitte
Charitéplatz 1
10117 Berlin - Germany)
- Charité - Universitätsmedizin Berlin / Charite - University Medicine Berlin (Charitéplatz, 10117 Berlin - Germany)
6
UCP - Université de Cergy Pontoise (33 Boulevard du Port, 95011 Cergy-Pontoise Cedex - France)
- Université Paris-Seine (3 avenue Bernard Hirsch, CS 50105, 95021 Cergy-Pontoise - France)
7
LNAO - Laboratoire de Neuroimagerie Assistée par Ordinateur (France)
- CEA - Commissariat à l'énergie atomique et aux énergies alternatives : DSV/I2BM/NEUROSPIN (Centre de Saclay Centre de Grenoble Centre de Cadarache etc - France)
8
TU Dresden - Technische Universität Dresden = Dresden University of Technology (TU Dresden 01062 Dresden - Germany)
9
King‘s College London (Strand Campus, London WC2R 2LS - United Kingdom)
10
ARAMIS - Algorithms, models and methods for images and signals of the human brain (Hôpital de la Pitié-Salpêtrière Batiment ICM 47 boulevard de l'hopital 75013 Paris - France)
- SU - Sorbonne Université (21 rue de l’École de médecine - 75006 Paris - France)
- Inria de Paris (2 rue Simone Iff -
CS 42112 -
75589 Paris Cedex 12 - France)
- Inria - Institut National de Recherche en Informatique et en Automatique (Domaine de Voluceau Rocquencourt - BP 105 78153 Le Chesnay Cedex - France)
- ICM - Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (47-83 Boulevard de l'Hôpital 75651 Paris Cedex 13 - France)
- INSERM - Institut National de la Santé et de la Recherche Médicale : U1127 (101, rue de Tolbiac, 75013 Paris - France)
- CHU Pitié-Salpêtrière [AP-HP] (47-83 Boulevard de l'Hôpital, 75013 Paris - France)
- Sorbonne Université (France)
- AP-HP - Assistance publique - Hôpitaux de Paris (AP-HP) (France)
- SU - Sorbonne Université : UM75 (21 rue de l’École de médecine - 75006 Paris - France)
- CNRS - Centre National de la Recherche Scientifique : UMR7225 (France)
Abstract : Incomplete hippocampal inversion (IHI), also called hippocampal malrotation,is an atypical presentation of the hippocampuspresent in about 20% of healthy individuals. Here we conducted the first genome-wide association study (GWAS) in IHI to elucidate the genetic underpinnings that may contribute to the incomplete inversion during brain development.A total of 1381 subjects contributed to the discovery cohortobtained from the IMAGEN database. The incidence rate of IHI was 26.1%. Loci with P<1e-5were followed up in a validation cohort comprising 161subjects from the PING study.Summary statistics from the discovery cohort were used to compute IHI heritability as well as genetic correlations with other traits.Alocus on 18q11.2 (rs9952569; OR=1.999; Z=5.502; P=3.755e-8) showed a significant association with the presence of IHI. A functional annotation of the locusimplicatedgenes AQP4and KCTD1. However, neitherthis locus nor the other 16 suggestive loci reached a significant p-value in the validation cohort. The h2 estimate was 0.54 (sd: 0.30) and was significant (Z=1.8; P=0.036). The top three genetic correlations of IHI were with traits representing either intelligence or education attainment and reachednominal P<=0.013.
Document type :
Journal articles
Complete list of metadata
https://hal.inria.fr/hal-02416654
Contributor : Claire Cury <>
Submitted on : Tuesday, December 17, 2019 - 6:10:22 PM
Last modification on : Friday, June 25, 2021 - 4:26:48 PM
Long-term archiving on: : Wednesday, March 18, 2020 - 8:57:13 PM
Contributor : Claire Cury <>
Submitted on : Tuesday, December 17, 2019 - 6:10:22 PM
Last modification on : Friday, June 25, 2021 - 4:26:48 PM
Long-term archiving on: : Wednesday, March 18, 2020 - 8:57:13 PM
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Identifiers
- HAL Id : hal-02416654, version 1
- DOI : 10.1371/journal.pone.0227355
Collections
UNIV-CERGY | CEA | INRIA | ICM | JOLIOT | CEA-DRF | NEUROSPIN | SORBONNE-UNIVERSITE | SU-MEDECINE | CNRS | CEA-UPSAY | INSERM | UNIV-PARIS | UP-SCIENCES | PASTEUR | SU-TI | GS-ENGINEERING | GS-LIFE-SCIENCES-HEALTH
Citation
Claire Cury, Marzia Scelsi, Roberto Toro, Vincent Frouin, Eric Artiges, et al.. Genome wide association study of incomplete hippocampal inversion in adolescents. PLoS ONE, Public Library of Science, 2020, 15 (1), ⟨10.1371/journal.pone.0227355⟩. ⟨hal-02416654⟩
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