Collection |

UK Biobank

The UK Biobank is a prospective cohort study with deep genetic, physical and health data collected on ~500,000 individuals across the United Kingdom from 2006-2010. This unprecedented open access database has enabled an order of magnitude larger studies on genetic and epidemiological associations for an extensive range of health related traits. The UK Biobank has generously made their datasets, and research results resulting from these, accessible to researchers as an open access resource to benefit public health.

This collection accompanies the publication of the first main papers from UK Biobank in Nature and associated commentaries. We also highlight a selection of research publications from Nature journals that showcase how these UK Biobank datasets have already been widely used in a broad range of studies in order to advance the understanding of the genetic basis of disease, genetic epidemiology and public health.

- Orli G. Bahcall, Senior Editor, Nature

LISTEN: Professor Jonathan Marchini discusses the UK Biobank genetics and brain imaging publications in Nature. Podcast: UK Biobank opens a new era of health research.

UK Biobank publications

  • Nature | Article | open

    Deep phenotype and genome-wide genetic data from 500,000 individuals from the UK Biobank, describing population structure and relatedness in the cohort, and imputation to increase the number of testable variants to 96 million.

    • Clare Bycroft
    • , Colin Freeman
    • , Desislava Petkova
    • , Gavin Band
    • , Lloyd T. Elliott
    • , Kevin Sharp
    • , Allan Motyer
    • , Damjan Vukcevic
    • , Olivier Delaneau
    • , Jared O’Connell
    • , Adrian Cortes
    • , Samantha Welsh
    • , Alan Young
    • , Mark Effingham
    • , Gil McVean
    • , Stephen Leslie
    • , Naomi Allen
    • , Peter Donnelly
    •  &  Jonathan Marchini
  • Nature | Article | open

    Genome-wide association studies of brain imaging data from 8,428 individuals in UK Biobank show that many of the 3,144 traits studied are heritable, and genes associated with individual phenotypes are identified.

    • Lloyd T. Elliott
    • , Kevin Sharp
    • , Fidel Alfaro-Almagro
    • , Sinan Shi
    • , Karla L. Miller
    • , Gwenaëlle Douaud
    • , Jonathan Marchini
    •  &  Stephen M. Smith
  • Nature | Article

    Analysis of genotyping data for more than 150,000 individuals from the UK Biobank using long-range phase information sheds light on mechanisms of clonal haematopoiesis.

    • Po-Ru Loh
    • , Giulio Genovese
    • , Robert E. Handsaker
    • , Hilary K. Finucane
    • , Yakir A. Reshef
    • , Pier Francesco Palamara
    • , Brenda M. Birmann
    • , Michael E. Talkowski
    • , Samuel F. Bakhoum
    • , Steven A. McCarroll
    •  &  Alkes L. Price
  • Nature Neuroscience | Resource

    The UK Biobank combines detailed phenotyping and genotyping with tracking of long-term health outcomes in a large cohort. This study describes the recently launched brain-imaging component that will ultimately scan 100,000 individuals. Results from the first 5,000 subjects are reported, including thousands of associations, population modes and hypothesis-driven results.

    • Karla L Miller
    • , Fidel Alfaro-Almagro
    • , Neal K Bangerter
    • , David L Thomas
    • , Essa Yacoub
    • , Junqian Xu
    • , Andreas J Bartsch
    • , Saad Jbabdi
    • , Stamatios N Sotiropoulos
    • , Jesper L R Andersson
    • , Ludovica Griffanti
    • , Gwenaëlle Douaud
    • , Thomas W Okell
    • , Peter Weale
    • , Iulius Dragonu
    • , Steve Garratt
    • , Sarah Hudson
    • , Rory Collins
    • , Mark Jenkinson
    • , Paul M Matthews
    •  &  Stephen M Smith

News & Commentaries

Health genetics

  • Nature Genetics | Letter

    Analysis of 329,000 individuals in the UK Biobank identifies 116 loci associated with neuroticism. Genes implicated are enriched in neuronal differentiation pathways, and genetic correlations between neuroticism and other mental health traits are elucidated.

    • Michelle Luciano
    • , Saskia P. Hagenaars
    • , Gail Davies
    • , W. David Hill
    • , Toni-Kim Clarke
    • , Masoud Shirali
    • , Sarah E. Harris
    • , Riccardo E. Marioni
    • , David C. Liewald
    • , Chloe Fawns-Ritchie
    • , Mark J. Adams
    • , David M. Howard
    • , Cathryn M. Lewis
    • , Catharine R. Gale
    • , Andrew M. McIntosh
    •  &  Ian J. Deary
  • Nature Genetics | Article

    Genome-wide association study for osteoarthritis using data from UK Biobank identifies loci for knee- and hip-specific disease. Functional analyses of chondrocytes provide further insight into candidate causal genes.

    • Eleni Zengini
    • , Konstantinos Hatzikotoulas
    • , Ioanna Tachmazidou
    • , Julia Steinberg
    • , Fernando P. Hartwig
    • , Lorraine Southam
    • , Sophie Hackinger
    • , Cindy G. Boer
    • , Unnur Styrkarsdottir
    • , Arthur Gilly
    • , Daniel Suveges
    • , Britt Killian
    • , Thorvaldur Ingvarsson
    • , Helgi Jonsson
    • , George C. Babis
    • , Andrew McCaskie
    • , Andre G. Uitterlinden
    • , Joyce B. J. van Meurs
    • , Unnur Thorsteinsdottir
    • , Kari Stefansson
    • , George Davey Smith
    • , Jeremy M. Wilkinson
    •  &  Eleftheria Zeggini
  • Nature Genetics | Letter

    Genome-wide meta-analysis identifies >100 loci associated with hair color variation in humans of European ancestry. These loci explain a large portion of the heritability of this trait & provide insights into pathways regulating hair pigmentation.

    • Pirro G. Hysi
    • , Ana M. Valdes
    • , Fan Liu
    • , Nicholas A. Furlotte
    • , David M. Evans
    • , Veronique Bataille
    • , Alessia Visconti
    • , Gibran Hemani
    • , George McMahon
    • , Susan M. Ring
    • , George Davey Smith
    • , David L. Duffy
    • , Gu Zhu
    • , Scott D. Gordon
    • , Sarah E. Medland
    • , Bochao D. Lin
    • , Gonneke Willemsen
    • , Jouke Jan Hottenga
    • , Dragana Vuckovic
    • , Giorgia Girotto
    • , Ilaria Gandin
    • , Cinzia Sala
    • , Maria Pina Concas
    • , Marco Brumat
    • , Paolo Gasparini
    • , Daniela Toniolo
    • , Massimiliano Cocca
    • , Antonietta Robino
    • , Seyhan Yazar
    • , Alex W. Hewitt
    • , Yan Chen
    • , Changqing Zeng
    • , Andre G. Uitterlinden
    • , M. Arfan Ikram
    • , Merel A. Hamer
    • , Cornelia M. van Duijn
    • , Tamar Nijsten
    • , David A. Mackey
    • , Mario Falchi
    • , Dorret I. Boomsma
    • , Nicholas G. Martin
    • , David A. Hinds
    • , Manfred Kayser
    •  &  Timothy D. Spector
  • Nature Genetics | Analysis

    BayesS estimates SNP-based heritability, polygenicity, and the relationship between effect size and minor allele frequency using genome-wide SNP data. Applying BayesS to UK Biobank data identifies signatures of natural selection for 23 complex traits.

    • Jian Zeng
    • , Ronald de Vlaming
    • , Yang Wu
    • , Matthew R. Robinson
    • , Luke R. Lloyd-Jones
    • , Loic Yengo
    • , Chloe X. Yap
    • , Angli Xue
    • , Julia Sidorenko
    • , Allan F. McRae
    • , Joseph E. Powell
    • , Grant W. Montgomery
    • , Andres Metspalu
    • , Tonu Esko
    • , Greg Gibson
    • , Naomi R. Wray
    • , Peter M. Visscher
    •  &  Jian Yang
  • Nature Genetics | Letter

    Meta-analysis of genome-wide association studies for cognitive ability identifies 190 new loci and implicates 939 new genes related to neurogenesis, neuron differentiation and synaptic structure.

    • Jeanne E. Savage
    • , Philip R. Jansen
    • , Sven Stringer
    • , Kyoko Watanabe
    • , Julien Bryois
    • , Christiaan A. de Leeuw
    • , Mats Nagel
    • , Swapnil Awasthi
    • , Peter B. Barr
    • , Jonathan R. I. Coleman
    • , Katrina L. Grasby
    • , Anke R. Hammerschlag
    • , Jakob A. Kaminski
    • , Robert Karlsson
    • , Eva Krapohl
    • , Max Lam
    • , Marianne Nygaard
    • , Chandra A. Reynolds
    • , Joey W. Trampush
    • , Hannah Young
    • , Delilah Zabaneh
    • , Sara Hägg
    • , Narelle K. Hansell
    • , Ida K. Karlsson
    • , Sten Linnarsson
    • , Grant W. Montgomery
    • , Ana B. Muñoz-Manchado
    • , Erin B. Quinlan
    • , Gunter Schumann
    • , Nathan G. Skene
    • , Bradley T. Webb
    • , Tonya White
    • , Dan E. Arking
    • , Dimitrios Avramopoulos
    • , Robert M. Bilder
    • , Panos Bitsios
    • , Katherine E. Burdick
    • , Tyrone D. Cannon
    • , Ornit Chiba-Falek
    • , Andrea Christoforou
    • , Elizabeth T. Cirulli
    • , Eliza Congdon
    • , Aiden Corvin
    • , Gail Davies
    • , Ian J. Deary
    • , Pamela DeRosse
    • , Dwight Dickinson
    • , Srdjan Djurovic
    • , Gary Donohoe
    • , Emily Drabant Conley
    • , Johan G. Eriksson
    • , Thomas Espeseth
    • , Nelson A. Freimer
    • , Stella Giakoumaki
    • , Ina Giegling
    • , Michael Gill
    • , David C. Glahn
    • , Ahmad R. Hariri
    • , Alex Hatzimanolis
    • , Matthew C. Keller
    • , Emma Knowles
    • , Deborah Koltai
    • , Bettina Konte
    • , Jari Lahti
    • , Stephanie Le Hellard
    • , Todd Lencz
    • , David C. Liewald
    • , Edythe London
    • , Astri J. Lundervold
    • , Anil K. Malhotra
    • , Ingrid Melle
    • , Derek Morris
    • , Anna C. Need
    • , William Ollier
    • , Aarno Palotie
    • , Antony Payton
    • , Neil Pendleton
    • , Russell A. Poldrack
    • , Katri Räikkönen
    • , Ivar Reinvang
    • , Panos Roussos
    • , Dan Rujescu
    • , Fred W. Sabb
    • , Matthew A. Scult
    • , Olav B. Smeland
    • , Nikolaos Smyrnis
    • , John M. Starr
    • , Vidar M. Steen
    • , Nikos C. Stefanis
    • , Richard E. Straub
    • , Kjetil Sundet
    • , Henning Tiemeier
    • , Aristotle N. Voineskos
    • , Daniel R. Weinberger
    • , Elisabeth Widen
    • , Jin Yu
    • , Goncalo Abecasis
    • , Ole A. Andreassen
    • , Gerome Breen
    • , Lene Christiansen
    • , Birgit Debrabant
    • , Danielle M. Dick
    • , Andreas Heinz
    • , Jens Hjerling-Leffler
    • , M. Arfan Ikram
    • , Kenneth S. Kendler
    • , Nicholas G. Martin
    • , Sarah E. Medland
    • , Nancy L. Pedersen
    • , Robert Plomin
    • , Tinca J. C. Polderman
    • , Stephan Ripke
    • , Sophie van der Sluis
    • , Patrick F. Sullivan
    • , Scott I. Vrieze
    • , Margaret J. Wright
    •  &  Danielle Posthuma
  • Nature Genetics | Letter

    A meta-analysis of genome-wide association studies for neuroticism identifies novel loci, pathways and potential drug targets. Further analysis implicates specific brain regions and evaluates genetic overlap with other neuropsychiatric traits.

    • Mats Nagel
    • , Philip R. Jansen
    • , Sven Stringer
    • , Kyoko Watanabe
    • , Christiaan A. de Leeuw
    • , Julien Bryois
    • , Jeanne E. Savage
    • , Anke R. Hammerschlag
    • , Nathan G. Skene
    • , Ana B. Muñoz-Manchado
    • , Michelle Agee
    • , Babak Alipanahi
    • , Adam Auton
    • , Robert K. Bell
    • , Katarzyna Bryc
    • , Sarah L. Elson
    • , Pierre Fontanillas
    • , Nicholas A. Furlotte
    • , David A. Hinds
    • , Bethann S. Hromatka
    • , Karen E. Huber
    • , Aaron Kleinman
    • , Nadia K. Litterman
    • , Matthew H. McIntyre
    • , Joanna L. Mountain
    • , Elizabeth S. Noblin
    • , Carrie A. M. Northover
    • , Steven J. Pitts
    • , J. Fah Sathirapongsasuti
    • , Olga V. Sazonova
    • , Janie F. Shelton
    • , Suyash Shringarpure
    • , Chao Tian
    • , Joyce Y. Tung
    • , Vladimir Vacic
    • , Catherine H. Wilson
    • , Tonya White
    • , Henning Tiemeier
    • , Sten Linnarsson
    • , Jens Hjerling-Leffler
    • , Tinca J. C. Polderman
    • , Patrick F. Sullivan
    • , Sophie van der Sluis
    •  &  Danielle Posthuma

Methods

  • Nature Genetics | Analysis

    SAIGE (Scalable and Accurate Implementation of GEneralized mixed model) is a generalized mixed model association test that can efficiently analyze large data sets while controlling for unbalanced case-control ratios and sample relatedness, as shown by applying SAIGE to the UK Biobank data for > 1,400 binary phenotypes.

    • Wei Zhou
    • , Jonas B. Nielsen
    • , Lars G. Fritsche
    • , Rounak Dey
    • , Maiken E. Gabrielsen
    • , Brooke N. Wolford
    • , Jonathon LeFaive
    • , Peter VandeHaar
    • , Sarah A. Gagliano
    • , Aliya Gifford
    • , Lisa A. Bastarache
    • , Wei-Qi Wei
    • , Joshua C. Denny
    • , Maoxuan Lin
    • , Kristian Hveem
    • , Hyun Min Kang
    • , Goncalo R. Abecasis
    • , Cristen J. Willer
    •  &  Seunggeun Lee
  • Nature Genetics | Article

    MTAG is a new method for joint analysis of summary statistics from genome-wide association studies of different traits. Applying MTAG to summary statistics for depressive symptoms, neuroticism and subjective well-being increased discovery of associated loci as compared to single-trait analyses.

    • Patrick Turley
    • , Raymond K. Walters
    • , Omeed Maghzian
    • , Aysu Okbay
    • , James J. Lee
    • , Mark Alan Fontana
    • , Tuan Anh Nguyen-Viet
    • , Robbee Wedow
    • , Meghan Zacher
    • , Nicholas A. Furlotte
    • , Patrik Magnusson
    • , Sven Oskarsson
    • , Magnus Johannesson
    • , Peter M. Visscher
    • , David Laibson
    • , David Cesarini
    • , Benjamin M. Neale
    • , Daniel J. Benjamin
    • , Michelle Agee
    • , Babak Alipanahi
    • , Adam Auton
    • , Robert K. Bell
    • , Katarzyna Bryc
    • , Sarah L. Elson
    • , Pierre Fontanillas
    • , Nicholas A. Furlotte
    • , David A. Hinds
    • , Bethann S. Hromatka
    • , Karen E. Huber
    • , Aaron Kleinman
    • , Nadia K. Litterman
    • , Matthew H. McIntyre
    • , Joanna L. Mountain
    • , Carrie A. M. Northover
    • , J. Fah Sathirapongsasuti
    • , Olga V. Sazonova
    • , Janie F. Shelton
    • , Suyash Shringarpure
    • , Chao Tian
    • , Joyce Y. Tung
    • , Vladimir Vacic
    • , Catherine H. Wilson
    •  &  Steven J. Pitts