Polygenic Architecture of Human Neuroanatomical Diversity.


Journal

Cerebral cortex (New York, N.Y. : 1991)
ISSN: 1460-2199
Titre abrégé: Cereb Cortex
Pays: United States
ID NLM: 9110718

Informations de publication

Date de publication:
14 04 2020
Historique:
received: 16 09 2019
accepted: 17 09 2019
pubmed: 29 2 2020
medline: 19 8 2021
entrez: 29 2 2020
Statut: ppublish

Résumé

We analyzed the genomic architecture of neuroanatomical diversity using magnetic resonance imaging and single nucleotide polymorphism (SNP) data from >26 000 individuals from the UK Biobank project and 5 other projects that had previously participated in the ENIGMA (Enhancing NeuroImaging Genetics through Meta-Analysis) consortium. Our results confirm the polygenic architecture of neuroanatomical diversity, with SNPs capturing from 40% to 54% of regional brain volume variance. Chromosomal length correlated with the amount of phenotypic variance captured, r ~ 0.64 on average, suggesting that at a global scale causal variants are homogeneously distributed across the genome. At a local scale, SNPs within genes (~51%) captured ~1.5 times more genetic variance than the rest, and SNPs with low minor allele frequency (MAF) captured less variance than the rest: the 40% of SNPs with MAF <5% captured <one fourth of the genetic variance. We also observed extensive pleiotropy across regions, with an average genetic correlation of rG ~ 0.45. Genetic correlations were similar to phenotypic and environmental correlations; however, genetic correlations were often larger than phenotypic correlations for the left/right volumes of the same region. The heritability of differences in left/right volumes was generally not statistically significant, suggesting an important influence of environmental causes in the variability of brain asymmetry. Our code is available athttps://github.com/neuroanatomy/genomic-architecture.

Identifiants

pubmed: 32109272
pii: 5669893
doi: 10.1093/cercor/bhz241
pmc: PMC7175006
doi:

Types de publication

Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

2307-2320

Subventions

Organisme : Medical Research Council
ID : MR/R024065/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/K026992/1
Pays : United Kingdom
Organisme : NIDA NIH HHS
ID : U24 DA039832
Pays : United States
Organisme : NIMH NIH HHS
ID : R01 MH083320
Pays : United States
Organisme : Medical Research Council
ID : G0701120
Pays : United Kingdom
Organisme : Medical Research Council
ID : G0700704
Pays : United Kingdom
Organisme : Biotechnology and Biological Sciences Research Council
ID : BB/F019394/1
Pays : United Kingdom

Commentaires et corrections

Type : ErratumIn

Informations de copyright

© The Author(s) 2019. Published by Oxford University Press. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

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Auteurs

Anne Biton (A)

Human Genetics and Cognitive Functions Unit, Institut Pasteur, UMR 3571, CNRS, Université Paris Diderot, Paris 75015, France.
Hub de Bioinformatique et Biostatistique-Département Biologie Computationnelle, Institut Pasteur, USR 3756 CNRS, Paris 75015, France.

Nicolas Traut (N)

Human Genetics and Cognitive Functions Unit, Institut Pasteur, UMR 3571, CNRS, Université Paris Diderot, Paris 75015, France.

Jean-Baptiste Poline (JB)

Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montreal, Quebec, H3A 2B4, Canada.

Benjamin S Aribisala (BS)

Centre for Cognitive Ageing and Cognitive Epidemiology, Department of Psychology, University of Edinburgh, Edinburgh, EH8 9JZ, UK.
Centre for Clinical Brain Sciences, University of Edinburgh, Edinburgh, EH16 4SB UK.
Department of Computer Science, Lagos State University, Lagos, 102101, Nigeria.

Mark E Bastin (ME)

Centre for Cognitive Ageing and Cognitive Epidemiology, Department of Psychology, University of Edinburgh, Edinburgh, EH8 9JZ, UK.
Centre for Clinical Brain Sciences, University of Edinburgh, Edinburgh, EH16 4SB UK.
Brain Research Imaging Centre, Centre for Clinical Brain Sciences, University of Edinburgh, Edinburgh, EH16 4TJ, UK.

Robin Bülow (R)

The Institute of Diagnostic Radiology and Neuroradiology, University Medicine Greifswald, Greifswald, 17489, Germany.

Simon R Cox (SR)

Centre for Cognitive Ageing and Cognitive Epidemiology, Department of Psychology, University of Edinburgh, Edinburgh, EH8 9JZ, UK.
Department of Psychology, University of Edinburgh, Edinburgh, EH8 9JZ, UK.

Ian J Deary (IJ)

Centre for Cognitive Ageing and Cognitive Epidemiology, Department of Psychology, University of Edinburgh, Edinburgh, EH8 9JZ, UK.
Department of Psychology, University of Edinburgh, Edinburgh, EH8 9JZ, UK.

Masaki Fukunaga (M)

Division of Cerebral Integration, National Institute for Physiological Sciences, Okazaki, 444-8585, Japan.
Department of Physiological Sciences, School of Life Sciences, The Graduate University for Advanced Studies (SOKENDAI), Hayama, 240-0193, Japan.

Hans J Grabe (HJ)

Department of Psychiatry and Psychotherapy, University Medicine Greifswald, Greifswald, 17485, Germany.
German Centre of Neurodegenerative Diseases (DZNE) Site Greifswald/Rostock, Greifswald, 17489, Germany.

Saskia Hagenaars (S)

Centre for Cognitive Ageing and Cognitive Epidemiology, Department of Psychology, University of Edinburgh, Edinburgh, EH8 9JZ, UK.
Department of Psychology, University of Edinburgh, Edinburgh, EH8 9JZ, UK.
The Social Genetic and Developmental Psychiatry Research Centre, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, SE5 8AF, UK.

Ryota Hashimoto (R)

Department of Pathology of Mental Diseases, National Institute of Mental Health, National Center of Neurology and Psychiatry, Tokyo, 187-0031, Japan.

Masataka Kikuchi (M)

Department of Genome Informatics, Graduate School of Medicine, Osaka University, Osaka, 565-0871, Japan.

Susana Muñoz Maniega (S)

Centre for Cognitive Ageing and Cognitive Epidemiology, Department of Psychology, University of Edinburgh, Edinburgh, EH8 9JZ, UK.
Centre for Clinical Brain Sciences, University of Edinburgh, Edinburgh, EH16 4SB UK.
Brain Research Imaging Centre, Centre for Clinical Brain Sciences, University of Edinburgh, Edinburgh, EH16 4TJ, UK.

Matthias Nauck (M)

Institute of Clinical Chemistry and Laboratory Medicine, University Medicine Greifswald, Greifswald, 17475, Germany.
DZHK (German Centre for Cardiovascular Research), Partner Site Greifswald, University Medicine, Greifswald, 17475, Germany.

Natalie A Royle (NA)

Centre for Cognitive Ageing and Cognitive Epidemiology, Department of Psychology, University of Edinburgh, Edinburgh, EH8 9JZ, UK.
Centre for Clinical Brain Sciences, University of Edinburgh, Edinburgh, EH16 4SB UK.
Brain Research Imaging Centre, Centre for Clinical Brain Sciences, University of Edinburgh, Edinburgh, EH16 4TJ, UK.

Alexander Teumer (A)

Institute for Community Medicine, University Medicine Greifswald, Greifswald, 17475, Germany.

Maria Valdés Hernández (M)

Centre for Cognitive Ageing and Cognitive Epidemiology, Department of Psychology, University of Edinburgh, Edinburgh, EH8 9JZ, UK.
Centre for Clinical Brain Sciences, University of Edinburgh, Edinburgh, EH16 4SB UK.
Brain Research Imaging Centre, Centre for Clinical Brain Sciences, University of Edinburgh, Edinburgh, EH16 4TJ, UK.

Uwe Völker (U)

DZHK (German Centre for Cardiovascular Research), Partner Site Greifswald, University Medicine, Greifswald, 17475, Germany.
Department of Functional Genomics, Interfaculty Institute of Genetics and Functional Genomics, University Greifswald, Greifswald, 17475, Germany.

Joanna M Wardlaw (JM)

Centre for Cognitive Ageing and Cognitive Epidemiology, Department of Psychology, University of Edinburgh, Edinburgh, EH8 9JZ, UK.
Centre for Clinical Brain Sciences, University of Edinburgh, Edinburgh, EH16 4SB UK.
Brain Research Imaging Centre, Centre for Clinical Brain Sciences, University of Edinburgh, Edinburgh, EH16 4TJ, UK.

Katharina Wittfeld (K)

Department of Psychiatry and Psychotherapy, University Medicine Greifswald, Greifswald, 17485, Germany.
German Centre of Neurodegenerative Diseases (DZNE) Site Greifswald/Rostock, Greifswald, 17489, Germany.

Hidenaga Yamamori (H)

Department of Psychiatry, Graduate School of Medicine, Osaka University, Osaka, 565-0871, Japan.

Thomas Bourgeron (T)

Human Genetics and Cognitive Functions Unit, Institut Pasteur, UMR 3571, CNRS, Université Paris Diderot, Paris 75015, France.

Roberto Toro (R)

Human Genetics and Cognitive Functions Unit, Institut Pasteur, UMR 3571, CNRS, Université Paris Diderot, Paris 75015, France.
Center for Research and Interdisciplinarity (CRI), Université Paris Descartes, Paris, 75004, France.

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