Evidence map›Paper›PMID 33875891›Full record

ArticleNature neuroscience2021

An expanded set of genome-wide association studies of brain imaging phenotypes in UK Biobank.

Stephen M Smith, Gwenaëlle Douaud, Winfield Chen, Taylor Hanayik, Fidel Alfaro-Almagro, Kevin Sharp, Lloyd T Elliott

Open access · greenAbstract read
In one paragraph

Article in Nature neuroscience, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 347 papers, 7 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
347citing papers in PubMed, 7 pooled it
66.0field-weighted citation impact, top 1% 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.

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

347 citing papers in PubMed, 7 syntheses or guidelines pooled it, 558 citations in OpenAlex.

  1. Pooled it
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  3. The genetics of cannabis lifetime use.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2026
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  18. Effects of BACE2 polymorphisms on verbal memory in the general population.European archives of psychiatry and clinical neuroscience · 2026
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  19. Genetic pleiotropy differentially linking brain variation to cannabis use and cannabis use disorder.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2026
    Article
  20. International journal of molecular sciences · 2026
    Article

287 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

7 authors at 3 institutions in 2 countries.

Stephen M SmithWellcome Centre for Integrative Neuroimaging (WIN FMRIB), University of Oxford, Oxford, United Kingdom.ORCID http://orcid.org/0000-0001-8166-069X
Gwenaëlle DouaudWellcome Centre for Integrative Neuroimaging (WIN FMRIB), University of Oxford, Oxford, United Kingdom.ORCID http://orcid.org/0000-0003-1981-391X
Winfield ChenDepartment of Statistics and Actuarial Science, Simon Fraser University, Burnaby BC, Canada.ORCID http://orcid.org/0000-0003-0400-444X
Taylor HanayikWellcome Centre for Integrative Neuroimaging (WIN FMRIB), University of Oxford, Oxford, United Kingdom.
Fidel Alfaro-AlmagroWellcome Centre for Integrative Neuroimaging (WIN FMRIB), University of Oxford, Oxford, United Kingdom.
Kevin SharpGenomics PLC, Oxford, United Kingdom.
Lloyd T ElliottDepartment of Statistics and Actuarial Science, Simon Fraser University, Burnaby BC, Canada. lloyd_elliott@sfu.ca.ORCID http://orcid.org/0000-0003-2187-7314
University of Oxford · GBSimon Fraser University · CAGenomics (United Kingdom) · GB

Funding

Department of HealthMedical Research Council MC_PC_17228Medical Research Council MC_QA137853Medical Research Council MR/K006673/1Wellcome Trust 098369Wellcome Trust 203139/Z/16/ZWellcome Trust 215573
6 · The paper itself

Abstract

UK Biobank is a major prospective epidemiological study, including multimodal brain imaging, genetics and ongoing health outcomes. Previously, we published genome-wide associations of 3,144 brain imaging-derived phenotypes, with a discovery sample of 8,428 individuals. Here we present a new open resource of genome-wide association study summary statistics, using the 2020 data release, almost tripling the discovery sample size. We now include the X chromosome and new classes of imaging-derived phenotypes (subcortical volumes and tissue contrast). Previously, we found 148 replicated clusters of associations between genetic variants and imaging phenotypes; in this study, we found 692, including 12 on the X chromosome. We describe some of the newly found associations, focusing on the X chromosome and autosomal associations involving the new classes of imaging-derived phenotypes. Our novel associations implicate, for example, pathways involved in the rare X-linked STAR (syndactyly, telecanthus and anogenital and renal malformations) syndrome, Alzheimer's disease and mitochondrial disorders.

Indexed as

Genome, HumanPhenotypeBiological Specimen BanksBrainGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMagnetic Resonance ImagingPolymorphism, Single NucleotideUnited Kingdom

Identifiers

PMID33875891
PMCPMC7610742
OpenAlexW3156441252

What OpenQuestion holds

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LicenceCC BY
Read underepoch 390

Registered trials

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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.