Genetic architectures of cerebral ventricles and their overlap with neuropsychiatric traits

Yi-Jun Ge, Bang-Sheng Wu, Yi Zhang, Shi-Dong Chen, Ya-Ru Zhang, Ju-Jiao Kang, Yue-Ting Deng, Ya-Nan Ou, Xiao-Yu He, Yong-Li Zhao, Kevin 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, Eric Artiges, Frauke Nees, Dimitri Papadopoulos Orfanos, Herve Lemaitre, Tomáš Paus, Luise Poustka, Sarah Hohmann, Sabina Millenet, Juliane H. Fröhner, Michael N. Smolka, Nilakshi Vaidya, Henrik Walter, Robert Whelan, Jian-Feng Feng, Lan Tan, Qiang Dong, Gunter Schumann, Wei Cheng () and Jin-Tai Yu ()
Additional contact information
Yi-Jun Ge: Fudan University
Bang-Sheng Wu: Fudan University
Yi Zhang: Fudan University
Shi-Dong Chen: Fudan University
Ya-Ru Zhang: Fudan University
Ju-Jiao Kang: Fudan University
Yue-Ting Deng: Fudan University
Ya-Nan Ou: Qingdao University
Xiao-Yu He: Fudan University
Yong-Li Zhao: Qingdao University
Kevin Kuo: Fudan University
Qing Ma: Fudan University
Tobias Banaschewski: Heidelberg University
Gareth J. Barker: King’s College London
Arun L. W. Bokde: Trinity College Dublin
Sylvane Desrivières: King’s College London
Herta Flor: Heidelberg University
Antoine Grigis: Université Paris-Saclay
Hugh Garavan: University of Vermont
Penny Gowland: University of Nottingham
Andreas Heinz: Charité—Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health
Rüdiger Brühl: Physikalisch-Technische Bundesanstalt
Jean-Luc Martinot: Centre Borelli
Marie-Laure Paillère Martinot: Centre Borelli
Eric Artiges: Centre Borelli
Frauke Nees: Heidelberg University
Dimitri Papadopoulos Orfanos: Université Paris-Saclay
Herve Lemaitre: Université Paris-Saclay
Tomáš Paus: University of Montreal
Luise Poustka: University Medical Centre Göttingen
Sarah Hohmann: Heidelberg University
Sabina Millenet: Heidelberg University
Juliane H. Fröhner: Technische Universität Dresden
Michael N. Smolka: Technische Universität Dresden
Nilakshi Vaidya: Charité Universitätsmedizin Berlin
Henrik Walter: Charité—Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health
Robert Whelan: Trinity College Dublin
Jian-Feng Feng: Fudan University
Lan Tan: Qingdao University
Qiang Dong: Fudan University
Gunter Schumann: Charité Universitätsmedizin Berlin
Wei Cheng: Fudan University
Jin-Tai Yu: Fudan University

Nature Human Behaviour, 2024, vol. 8, issue 1, 164-180

Abstract: Abstract 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.

Date: 2024
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DOI: 10.1038/s41562-023-01722-6

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