Evidence map›Paper›PMID 35842455›Full record

ArticleCommunications biology2022

Genome-wide association study of cerebellar volume provides insights into heritable mechanisms underlying brain development and mental health.

Elleke Tissink, Siemon C de Lange, Jeanne E Savage, Douglas P Wightman, Christiaan A de Leeuw, Kristen M Kelly, Mats Nagel, Martijn P van den Heuvel, Danielle Posthuma

Abstract read
In one paragraph

Article in Communications biology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

12 citing papers in PubMed.

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  6. GWAS for behavioral traits in golden retrievers identifies genes implicated in human temperament, mental health, and cognition.Proceedings of the National Academy of Sciences of the United States of America · 2025
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors.

Elleke TissinkDepartment of Complex Trait Genetics, Center for Neurogenomics and Cognitive Research, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, 1081 HV, Amsterdam, The Netherlands.ORCID http://orcid.org/0000-0003-4225-9347
Siemon C de LangeDepartment of Complex Trait Genetics, Center for Neurogenomics and Cognitive Research, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, 1081 HV, Amsterdam, The Netherlands.ORCID http://orcid.org/0000-0002-3981-7996
Jeanne E SavageDepartment of Complex Trait Genetics, Center for Neurogenomics and Cognitive Research, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, 1081 HV, Amsterdam, The Netherlands.ORCID http://orcid.org/0000-0002-2034-8341
Douglas P WightmanDepartment of Complex Trait Genetics, Center for Neurogenomics and Cognitive Research, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, 1081 HV, Amsterdam, The Netherlands.ORCID http://orcid.org/0000-0003-3377-4806
Christiaan A de LeeuwDepartment of Complex Trait Genetics, Center for Neurogenomics and Cognitive Research, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, 1081 HV, Amsterdam, The Netherlands.ORCID http://orcid.org/0000-0003-1076-9828
Kristen M KellyInstitute for Behavioral Genetics, University of Colorado Boulder, Boulder, CO, USA.
Mats NagelDepartment of Complex Trait Genetics, Center for Neurogenomics and Cognitive Research, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, 1081 HV, Amsterdam, The Netherlands.ORCID http://orcid.org/0000-0002-2010-542X
Martijn P van den HeuvelDepartment of Complex Trait Genetics, Center for Neurogenomics and Cognitive Research, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, 1081 HV, Amsterdam, The Netherlands.ORCID http://orcid.org/0000-0003-1570-1195
Danielle PosthumaDepartment of Complex Trait Genetics, Center for Neurogenomics and Cognitive Research, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, 1081 HV, Amsterdam, The Netherlands. danielle.posthuma@vu.nl.ORCID http://orcid.org/0000-0001-7582-2365

Funding

EPA EP-C-14-005EPA EP-C-16-015Medical Research Council MC_PC_17228Medical Research Council MC_QA137853
6 · The paper itself

Abstract

Cerebellar volume is highly heritable and associated with neurodevelopmental and neurodegenerative disorders. Understanding the genetic architecture of cerebellar volume may improve our insight into these disorders. This study aims to investigate the convergence of cerebellar volume genetic associations in close detail. A genome-wide associations study for cerebellar volume was performed in a discovery sample of 27,486 individuals from UK Biobank, resulting in 30 genome-wide significant loci and a SNP heritability of 39.82%. We pinpoint the likely causal variants and those that have effects on amino acid sequence or cerebellar gene-expression. Additionally, 85 genome-wide significant genes were detected and tested for convergence onto biological pathways, cerebellar cell types, human evolutionary genes or developmental stages. Local genetic correlations between cerebellar volume and neurodevelopmental and neurodegenerative disorders reveal shared loci with Parkinson's disease, Alzheimer's disease and schizophrenia. These results provide insights into the heritable mechanisms that contribute to developing a brain structure important for cognitive functioning and mental health.

Indexed as

Genome-Wide Association StudySchizophreniaBrainHumansMental HealthPolymorphism, Single Nucleotide

Identifiers

PMID35842455
PMCPMC9288439

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.