Genetic architectures of cerebral ventricles and their overlap with neuropsychiatric traits Article Swipe
Yi‐Jun Ge
,
Bang‐Sheng Wu
,
Yi Zhang
,
Shi-Dong Chen
,
Ya-Ru Zhang
,
Jujiao Kang
,
Yue‐Ting Deng
,
Ya‐Nan Ou
,
Xiao‐Yu He
,
Yongli Zhao
,
Kevin H.M. Kuo
,
Qing Ma
,
Tobias Banaschewski
,
Gareth J. Barker
,
Arun L.W. Bokde
,
Sylvane Desrivières
,
Herta Flor
,
Antoine Grigis
,
Hugh Garavan
,
Penny Gowland
,
Andreas Heinz
,
Rüdiger Brühl
,
Jean‐Luc Martinot
,
Marie‐Laure Paillère Martinot
,
Éric Artiges
,
Frauke Nees
,
Dimitri Papadopoulos Orfanos
,
Hervé Lemaître
,
Tomáš Paus
,
Luise Poustka
,
Sarah Hohmann
,
Sabina Millenet
,
Juliane H. Fröhner
,
Michael N. Smolka
,
Nilakshi Vaidya
,
Henrik Walter
,
Robert Whelan
,
Jianfeng Feng
,
Lan Tan
,
Qiang Dong
,
Gunter Schümann
,
Wei Cheng
,
Jin‐Tai Yu
·
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.1038/s41562-023-01722-6
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.1038/s41562-023-01722-6
The cerebral ventricles are recognized as windows into brain development and disease, yet their genetic architectures, underlying neural mechanisms and utility in maintaining brain health remain elusive. Here we aggregated genetic and neuroimaging data from 61,974 participants (age range, 9 to 98 years) in five cohorts to elucidate the genetic basis of ventricular morphology and examined their overlap with neuropsychiatric traits. Genome-wide association analysis in a discovery sample of 31,880 individuals identified 62 unique loci and 785 candidate genes associated with ventricular morphology. We replicated over 80% of loci in a well-matched cohort of lateral ventricular volume. Gene set analysis revealed enrichment of ventricular-trait-associated genes in biological processes and disease pathogenesis during both early brain development and degeneration. We explored the age-dependent genetic associations in cohorts of different age groups to investigate the possible roles of ventricular-trait-associated loci in neurodevelopmental and neurodegenerative processes. We describe the genetic overlap between ventricular and neuropsychiatric traits through comprehensive integrative approaches under correlative and causal assumptions. We propose the volume of the inferior lateral ventricles as a heritable endophenotype to predict the risk of Alzheimer's disease, which might be a consequence of prodromal Alzheimer's disease. Our study provides an advance in understanding the genetics of the cerebral ventricles and demonstrates the potential utility of ventricular measurements in tracking brain disorders and maintaining brain health across the lifespan.
Related Topics
Concepts
Endophenotype
Lateral ventricles
Genome-wide association study
Neuroimaging
Brain size
Brain morphometry
Disease
Imaging genetics
Genetic architecture
Neuroscience
Biology
Quantitative trait locus
Genetics
Medicine
Pathology
Gene
Magnetic resonance imaging
Single-nucleotide polymorphism
Cognition
Genotype
Radiology
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1038/s41562-023-01722-6
- OA Status
- hybrid
- Cited By
- 18
- References
- 127
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4387782311
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
-
https://openalex.org/W4387782311Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1038/s41562-023-01722-6Digital Object Identifier
- Title
-
Genetic architectures of cerebral ventricles and their overlap with neuropsychiatric traitsWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2023Year of publication
- Publication date
-
2023-10-19Full publication date if available
- Authors
-
Yi‐Jun Ge, Bang‐Sheng Wu, Yi Zhang, Shi-Dong Chen, Ya-Ru Zhang, Jujiao Kang, Yue‐Ting Deng, Ya‐Nan Ou, Xiao‐Yu He, Yongli Zhao, Kevin H.M. Kuo, Qing Ma, Tobias Banaschewski, Gareth J. Barker, Arun L.W. Bokde, Sylvane Desrivières, Herta Flor, Antoine Grigis, Hugh Garavan, Penny Gowland, Andreas Heinz, Rüdiger Brühl, Jean‐Luc Martinot, Marie‐Laure Paillère Martinot, Éric Artiges, Frauke Nees, Dimitri Papadopoulos Orfanos, Hervé Lemaître, Tomáš Paus, Luise Poustka, Sarah Hohmann, Sabina Millenet, Juliane H. Fröhner, Michael N. Smolka, Nilakshi Vaidya, Henrik Walter, Robert Whelan, Jianfeng Feng, Lan Tan, Qiang Dong, Gunter Schümann, Wei Cheng, Jin‐Tai YuList of authors in order
- Landing page
-
https://doi.org/10.1038/s41562-023-01722-6Publisher landing page
- Open access
-
YesWhether a free full text is available
- OA status
-
hybridOpen access status per OpenAlex
- OA URL
-
https://doi.org/10.1038/s41562-023-01722-6Direct OA link when available
- Concepts
-
Endophenotype, Lateral ventricles, Genome-wide association study, Neuroimaging, Brain size, Brain morphometry, Disease, Imaging genetics, Genetic architecture, Neuroscience, Biology, Quantitative trait locus, Genetics, Medicine, Pathology, Gene, Magnetic resonance imaging, Single-nucleotide polymorphism, Cognition, Genotype, RadiologyTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
18Total citation count in OpenAlex
- Citations by year (recent)
-
2025: 11, 2024: 6, 2023: 1Per-year citation counts (last 5 years)
- References (count)
-
127Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
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