Evidence map›Paper›PMID 34006833›Full record

ArticleNature communications2021

The genetic architecture of the human thalamus and its overlap with ten common brain disorders.

Torbjørn Elvsåshagen, Alexey Shadrin, Oleksandr Frei, Dennis van der Meer, Shahram Bahrami, Vinod Jangir Kumar, Olav Smeland, Lars T Westlye, Ole A Andreassen, Tobias Kaufmann

Registry-linked trialOpen access · goldAbstract read
In one paragraph

Article in Nature communications, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06025890 (Early Clinical Evaluation and Intervention of Developmental Behavioral Diseases Based on Multicenter Cohort Study), which is not on this map. Cited by 40 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
40citing papers in PubMed, 1 pooled it
6.0field-weighted citation impact, top 3% of its field
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.

NCT06025890 naunknown statusnot on this mapstarted 2022, after this paper: background citation

Early Clinical Evaluation and Intervention of Developmental Behavioral Diseases Based on Multicenter Cohort Study

TypeinterventionalSponsorChen LiRan2022 to 2025Enrolled2,100ConditionsADHD, Language DisordersArmsFunctional Training., Observe.
3 · Its place in the literature

Who cites it

40 citing papers in PubMed, 1 synthesis or guideline pooled it, 55 citations in OpenAlex.

  1. Pooled it
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  13. Joint Heritability of Sleep EEG Spindle Activity and Thalamic Volume in Early Adolescence.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2025
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  17. Perinatal development of structural thalamocortical connectivity.Imaging neuroscience (Cambridge, Mass.) · 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

10 authors at 2 institutions in 3 countries.

Torbjørn ElvsåshagenNORMENT, Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway. torbjorn.elvsashagen@medisin.uio.no.ORCID 0000-0001-9991-1610
Alexey ShadrinNORMENT, Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.ORCID 0000-0002-7467-250X
Oleksandr FreiNORMENT, Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.
Dennis van der MeerNORMENT, Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.
Shahram BahramiNORMENT, Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.
Vinod Jangir KumarMax Planck Institute for Biological Cybernetics, Tübingen, Germany.
Olav SmelandNORMENT, Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.ORCID 0000-0002-3761-5215
Lars T WestlyeNORMENT, Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.ORCID 0000-0001-8644-956X
Ole A AndreassenNORMENT, Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.ORCID 0000-0002-4461-3568
Tobias KaufmannNORMENT, Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway. tobias.kaufmann@medisin.uio.no.ORCID 0000-0002-4003-1018
Oslo University Hospital · NOMax Planck Institute for Biological Cybernetics · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The thalamus is a vital communication hub in the center of the brain and consists of distinct nuclei critical for consciousness and higher-order cortical functions. Structural and functional thalamic alterations are involved in the pathogenesis of common brain disorders, yet the genetic architecture of the thalamus remains largely unknown. Here, using brain scans and genotype data from 30,114 individuals, we identify 55 lead single nucleotide polymorphisms (SNPs) within 42 genetic loci and 391 genes associated with volumes of the thalamus and its nuclei. In an independent validation sample (n = 5173) 53 out of the 55 lead SNPs of the discovery sample show the same effect direction (sign test, P = 8.6e-14). We map the genetic relationship between thalamic nuclei and 180 cerebral cortical areas and find overlapping genetic architectures consistent with thalamocortical connectivity. Pleiotropy analyses between thalamic volumes and ten psychiatric and neurological disorders reveal shared variants for all disorders. Together, these analyses identify genetic loci linked to thalamic nuclei and substantiate the emerging view of the thalamus having central roles in cortical functioning and common brain disorders.

Indexed as

Polymorphism, Single NucleotideBrain DiseasesBrain MappingCerebral CortexGenetic LociGenetic Predisposition to DiseaseGenome, HumanGenome-Wide Association StudyHumansLinkage DisequilibriumMagnetic Resonance ImagingMental DisordersQuantitative Trait LociThalamic NucleiThalamus

Identifiers

PMID34006833
PMCPMC8131358
OpenAlexW3160525827

What OpenQuestion holds

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Registered trials

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.