ArticleNature communications2020
The genetic architecture of human brainstem structures and their involvement in common brain disorders.
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Article in Nature communications, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 2 of them syntheses that pooled it.
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32citing papers in PubMed, 2 pooled it
3.2field-weighted citation impact, top 6% of its field
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Who cites it
32 citing papers in PubMed, 2 syntheses or guidelines pooled it, 48 citations in OpenAlex.
- The genetic architecture of brainstem structures.Nature communications · 2025Pooled it
- A Systematic Review of Brainstem Contributions to Autism Spectrum Disorder.Frontiers in integrative neuroscience · 2021Pooled it
- Genetic architecture of MRI-derived cervical spinal cord morphology reveals sensory-motor axis and systemic disease associations.Nature communications · 2026Article
- From metabolic intermediary to neurotransmitter: purinergic signaling in neurophysiology and vulnerability of brain circuits.Bioscience reports · 2026Review
- Human genetics across levels of biological organization.Nature reviews. Genetics · 2026Review
- Genetic pathways linking oxytocin-vasotocin hypothalamic subunit architecture with psychiatric and metabolic traits.Molecular psychiatry · 2026Article
- Thalamic nuclei volumes across psychiatric and neurological disorders: a multi-site magnetic resonance imaging study.Translational psychiatry · 2026Article
- Heterogeneity-Aware, Multiscale Annotation of Shared and Specific Neurobiological Signatures among Major Neurodevelopmental Disorders.Research (Washington, D.C.) · 2026Article
- Vision Transformer Autoencoders for Unsupervised Representation Learning: Revealing Novel Genetic Associations through Learned Sparse Attention Patterns.medRxiv : the preprint server for health sciences · 2025Article
- Reductions in brainstem volume as a key macrostructural indicator in at-risk populations for Alzheimer's disease.Alzheimer's research & therapy · 2025Article
- Identification of candidate genes associated with bipolar disorder by whole-exome sequencing of a Chinese multi-affected pedigree.BMC psychiatry · 2025Article
- Beyond volume: Unraveling the genetics of human brain geometry.Science advances · 2025Article
- Large-scale brainstem neuroimaging and genetic analyses provide new insights into the neuronal mechanisms of hypertension.HGG advances · 2025Article
- The Genetic Architecture of Amygdala Nuclei.Biological psychiatry · 2024Article
- Bidirectional genetic overlap between autism spectrum disorder and cognitive traits.Translational psychiatry · 2023Article
- Neuroanatomical asymmetry in the canine brain.Brain structure & function · 2023Article
- Shared genetic loci between Alzheimer's disease and multiple sclerosis: Crossroads between neurodegeneration and immune system.Neurobiology of disease · 2023Article
- The genetic architecture of fornix white matter microstructure and their involvement in neuropsychiatric disorders.Translational psychiatry · 2023Article
- Sex differences in brainstem structure volumes in patients with schizophrenia.Schizophrenia (Heidelberg, Germany) · 2023Article
- The genetic architecture of human amygdala volumes and their overlap with common brain disorders.Translational psychiatry · 2023Article
Corrections and comments
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Authors and funding
77 authors at 20 institutions in 13 countries.
Torbjørn Elvsåshagen *NORMENT, Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway. torbjorn.elvsashagen@medisin.uio.no.
Shahram Bahrami *NORMENT, Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway. shahram.bahrami@medisin.uio.no.
Dennis van der MeerNORMENT, Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.ORCID http://orcid.org/0000-0002-0466-386X
Ingrid AgartzDepartment of Psychiatric Research, Diakonhjemmet Hospital, Oslo, Norway.
Dag AlnæsNORMENT, Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.ORCID http://orcid.org/0000-0001-7361-5418
Deanna M BarchDepartments of Psychological & Brain Sciences, Psychiatry, and Radiology, Washington University in St. Louis, St. Louis, USA.ORCID http://orcid.org/0000-0003-1693-8506
Ramona Baur-StreubelDepartment of Psychology I and Centre of Mental Health, University of Würzburg, Würzburg, Germany.
Alessandro BertolinoInstitute of Psychiatry, University of Bari, Bari, Italy.
Mona K BeyerInstitute of Clinical Medicine, University of Oslo, Oslo, Norway.
Giuseppe BlasiInstitute of Psychiatry, University of Bari, Bari, Italy.
Stefan BorgwardtDepartment of Psychiatry (UPK), University of Basel, Basel, Switzerland.
Birgitte BoyePsychosomatic and CL Psychiatry, Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.
Jan BuitelaarDepartment of Cognitive Neuroscience, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.ORCID http://orcid.org/0000-0001-8288-7757
Erlend BøenPsychosomatic and CL Psychiatry, Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.ORCID http://orcid.org/0000-0002-9546-2763
Elisabeth Gulowsen CeliusDepartment of Neurology, Division of Clinical Neuroscience, Oslo University Hospital, Oslo, Norway.
Simon CervenkaCentre for Psychiatry Research, Department of Clinical Neuroscience, Karolinska Institutet & Stockholm Health Care Services, Stockholm Region, Stockholm, Sweden.
Annette ConzelmannChildren and Adolescence Psychiatry, University of Tübingen, Tübingen, Germany.
David CoynelTransfaculty Research Platform Molecular and Cognitive Neurosciences, University of Basel, CH-4055, Basel, Switzerland.ORCID http://orcid.org/0000-0001-5028-5807
Pasquale Di CarloDepartment of Basic Medical Science, Neuroscience, and Sense Organs, University of Bari Aldo Moro, Bari, Italy.ORCID http://orcid.org/0000-0002-5150-5274
Srdjan DjurovicDepartment of Medical Genetics, Oslo University Hospital, Oslo, Norway.ORCID http://orcid.org/0000-0002-8140-8061
Sarah EisenacherDepartment of Psychiatry and Psychotherapy, Central Institute of Mental Health, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany.
Thomas EspesethDepartment of Psychology, University of Oslo, Oslo, Norway.
Helena Fatouros-BergmanCentre for Psychiatry Research, Department of Clinical Neuroscience, Karolinska Institutet & Stockholm Health Care Services, Stockholm Region, Stockholm, Sweden.
Lena FlycktCentre for Psychiatry Research, Department of Clinical Neuroscience, Karolinska Institutet & Stockholm Health Care Services, Stockholm Region, Stockholm, Sweden.ORCID http://orcid.org/0000-0003-2680-0340
Barbara FrankeDepartments of Human Genetics and Psychiatry, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Oleksandr FreiNORMENT, Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.
Barbara GelaoInstitute of Psychiatry, University of Bari, Bari, Italy.ORCID http://orcid.org/0000-0003-4375-6572
Hanne Flinstad HarboDepartment of Neurology, Division of Clinical Neuroscience, Oslo University Hospital, Oslo, Norway.
Catharina A HartmanDepartment of Psychiatry, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Asta HåbergDepartment of Neuromedicine and Movement Science, Norwegian University of Science and Technology, Trondheim, Norway.
Dirk HeslenfeldClinical Neuropsychology section, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
Pieter J HoekstraDepartment of Child and Adolescent Psychiatry, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Einar A HøgestølDepartment of Neurology, Division of Clinical Neuroscience, Oslo University Hospital, Oslo, Norway.ORCID http://orcid.org/0000-0001-8446-2111
Rune JonassenDepartment of Psychology, University of Oslo, Oslo, Norway.
Erik G JönssonNORMENT, Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.
Karolinska Schizophrenia Project (KaSP) consortium
Peter KirschDepartment of Clinical Psychology, Central Institute of Mental Health, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany.ORCID http://orcid.org/0000-0002-0817-1248
Iwona KłoszewskaDepartment of Old Age Psychiatry and Psychotic Disorders, Medical University of Lodz, Lodz, Poland.
Trine Vik LagerbergNORMENT, Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.
Nils Inge LandrøDepartment of Psychiatric Research, Diakonhjemmet Hospital, Oslo, Norway.
Stephanie Le HellardNORMENT, Department of Clinical Science, University of Bergen, Bergen, Norway.ORCID http://orcid.org/0000-0002-8085-051X
Klaus-Peter LeschDivision of Molecular Psychiatry, Center of Mental Health, University of Würzburg, Würzburg, Germany.ORCID http://orcid.org/0000-0001-8348-153X
Luigi A MaglanocNORMENT, Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.
Ulrik F MaltInstitute of Clinical Medicine, University of Oslo, Oslo, Norway.
Patrizia MecocciInstitute of Gerontology and Geriatrics, University of Perugia, Perugia, Italy.
Ingrid MelleNORMENT, Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.ORCID http://orcid.org/0000-0002-9783-548X
Andreas Meyer-LindenbergDepartment of Psychiatry and Psychotherapy, Central Institute of Mental Health, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany.
Torgeir MobergetNORMENT, Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.
Jan Egil NordvikThe CatoSenteret Rehabilitation Center, Son, Norway.
Lars NybergDepartments of Radiation Sciences and Integrative Medical Biology, Umeå Center for Functional Brain Imaging, Umeå University, Umeå, Sweden.
Kevin S O' ConnellNORMENT, Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.ORCID http://orcid.org/0000-0002-6865-8795
Jaap OosterlaanClinical Neuropsychology section, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
Marco PapalinoDepartment of Basic Medical Science, Neuroscience, and Sense Organs, University of Bari Aldo Moro, Bari, Italy.
Andreas PapassotiropoulosTransfaculty Research Platform Molecular and Cognitive Neurosciences, University of Basel, CH-4055, Basel, Switzerland.ORCID http://orcid.org/0000-0002-2210-9651
Paul PauliDepartment of Psychology I and Centre of Mental Health, University of Würzburg, Würzburg, Germany.ORCID http://orcid.org/0000-0003-0692-6720
Giulio PergolaDepartment of Basic Medical Science, Neuroscience, and Sense Organs, University of Bari Aldo Moro, Bari, Italy.ORCID http://orcid.org/0000-0002-9193-1841
Karin PerssonDepartment of Geriatric Medicine, Oslo University Hospital, Oslo, Norway.
Dominique de QuervainTransfaculty Research Platform Molecular and Cognitive Neurosciences, University of Basel, CH-4055, Basel, Switzerland.
Andreas ReifDepartment of Psychiatry, Psychosomatic Medicine and Psychotherapy, University Hospital Frankfurt, Frankfurt am Main, Germany.ORCID http://orcid.org/0000-0002-0992-634X
Jaroslav RokickiNORMENT, Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.
Daan van RooijDepartment of Cognitive Neuroscience, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Alexey A ShadrinNORMENT, Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.
André SchmidtDepartment of Psychiatry (UPK), University of Basel, Basel, Switzerland.
Emanuel SchwarzDepartment of Psychiatry and Psychotherapy, Central Institute of Mental Health, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany.
Geir SelbækInstitute of Clinical Medicine, University of Oslo, Oslo, Norway.ORCID http://orcid.org/0000-0001-6511-8219
Hilkka SoininenDepartment of Neurology, Institute of Clinical Medicine, University of Eastern Finland, Kuopio, Finland.ORCID http://orcid.org/0000-0002-2785-9937
Piotr SowaDivision of Radiology and Nuclear Medicine, Oslo University Hospital, Oslo, Norway.
Vidar M SteenNORMENT, Department of Clinical Science, University of Bergen, Bergen, Norway.
Magda Tsolaki1st University Department of Neurology, Aristotle University of Thessaloniki, Makedonia, Greece.ORCID http://orcid.org/0000-0002-2072-8010
Bruno VellasINSERM U 1027, University of Toulouse, Toulouse, France.
Lei WangFeinberg School of Medicine, Northwestern University, Chicago, IL, USA.ORCID http://orcid.org/0000-0003-3870-3388
Eric WestmanInstitute of Psychiatry, King's College, London, UK.ORCID http://orcid.org/0000-0002-3115-2977
Georg C ZieglerDivision of Molecular Psychiatry, Center of Mental Health, University of Würzburg, Würzburg, Germany.
Mathias ZinkDepartment of Psychiatry and Psychotherapy, Central Institute of Mental Health, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany.
Ole A AndreassenNORMENT, Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.
Lars T WestlyeNORMENT, Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.ORCID http://orcid.org/0000-0001-8644-956X
Tobias KaufmannNORMENT, Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway. tobias.kaufmann@medisin.uio.no.ORCID http://orcid.org/0000-0002-4003-1018
Oslo University Hospital · NOKarolinska Institutet · SEUniversity of Bari Aldo Moro · ITHeidelberg University · DEUniversity of Oslo · NOUniversity of Basel · CHRadboud University Nijmegen · NLUniversity of Würzburg · DEKing's College London · GBUniversity Medical Center Groningen · NLAristotle University of Thessaloniki · GREmma Kinderziekenhuis · NLGoethe University Frankfurt · DEHaukeland University Hospital · NOInserm · FRMedical University of Lodz · PLNorthwestern University · USNorwegian University of Science and Technology · NOOsloMet – Oslo Metropolitan University · NOSechenov University · RU
Funding
No grant is acknowledged in the PubMed record.
Abstract
Brainstem regions support vital bodily functions, yet their genetic architectures and involvement in common brain disorders remain understudied. Here, using imaging-genetics data from a discovery sample of 27,034 individuals, we identify 45 brainstem-associated genetic loci, including the first linked to midbrain, pons, and medulla oblongata volumes, and map them to 305 genes. In a replication sample of 7432 participants most of the loci show the same effect direction and are significant at a nominal threshold. We detect genetic overlap between brainstem volumes and eight psychiatric and neurological disorders. In additional clinical data from 5062 individuals with common brain disorders and 11,257 healthy controls, we observe differential volume alterations in schizophrenia, bipolar disorder, multiple sclerosis, mild cognitive impairment, dementia, and Parkinson's disease, supporting the relevance of brainstem regions and their genetic architectures in common brain disorders.
Indexed as
Brain DiseasesBrain StemGenes, OverlappingGenetic LociGenome-Wide Association StudyHumansMagnetic Resonance ImagingMultifactorial InheritanceOrgan Size
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