Genome-wide association studies

Genome-wide association studies (GWASs) are unbiased genome screens of unrelated individuals and appropriately matched controls or parent-affected child trios to establish whether any genetic variant is associated with a trait. These studies typically focus on associations between single-nucleotide polymorphisms (SNPs) and major diseases.

Latest Research and Reviews

  • Research | | open

    Genome-wide association studies (GWAS) have so far uncovered more than 200 loci for multiple sclerosis (MS). Here, the authors integrate data from various sources for a cell type-specific pathway analysis of MS GWAS results that specifically highlights the involvement of the immune system in disease pathogenesis.

    • Lohith Madireddy
    • , Niklaos A. Patsopoulos
    • , Chris Cotsapas
    • , Steffan D. Bos
    • , Ashley Beecham
    • , Jacob McCauley
    • , Kicheol Kim
    • , Xiaoming Jia
    • , Adam Santaniello
    • , Stacy J. Caillier
    • , Till F. M. Andlauer
    • , Lisa F. Barcellos
    • , Tone Berge
    • , Luisa Bernardinelli
    • , Filippo Martinelli-Boneschi
    • , David R. Booth
    • , Farren Briggs
    • , Elisabeth G. Celius
    • , Manuel Comabella
    • , Giancarlo Comi
    • , Bruce A. C. Cree
    • , Sandra D’Alfonso
    • , Katrina Dedham
    • , Pierre Duquette
    • , Dardiotis Efthimios
    • , Federica Esposito
    • , Bertrand Fontaine
    • , Christiane Gasperi
    • , An Goris
    • , Bénédicte Dubois
    • , Pierre-Antoine Gourraud
    • , Georgios Hadjigeorgiou
    • , Jonathan Haines
    • , Clive Hawkins
    • , Bernhard Hemmer
    • , Rogier Hintzen
    • , Dana Horakova
    • , Noriko Isobe
    • , Seema Kalra
    • , Jun-ichi Kira
    • , Michael Khalil
    • , Ingrid Kockum
    • , Christina M. Lill
    • , Matthew R. Lincoln
    • , Felix Luessi
    • , Roland Martin
    • , Annette Oturai
    • , Aarno Palotie
    • , Margaret A. Pericak-Vance
    • , Roland Henry
    • , Janna Saarela
    • , Adrian Ivinson
    • , Tomas Olsson
    • , Bruce V. Taylor
    • , Graeme J. Stewart
    • , Hanne F. Harbo
    • , Alastair Compston
    • , Stephen L. Hauser
    • , David A. Hafler
    • , Frauke Zipp
    • , Philip De Jager
    • , Stephen Sawcer
    • , Jorge R. Oksenberg
    •  & Sergio E. Baranzini
  • Research | | open

    Streptococcus pneumoniae is a causative agent of meningitis and bacteremia. In a combined pathogen and host GWAS, Lees et al. find that host genetic variation is associated with both susceptibility and severity of pneumococcal meningitis, and specific bacterial genetic variation associated with susceptibility.

    • John A. Lees
    • , Bart Ferwerda
    • , Philip H. C. Kremer
    • , Nicole E. Wheeler
    • , Mercedes Valls Serón
    • , Nicholas J. Croucher
    • , Rebecca A. Gladstone
    • , Hester J. Bootsma
    • , Nynke Y. Rots
    • , Alienke J. Wijmega-Monsuur
    • , Elisabeth A. M. Sanders
    • , Krzysztof Trzciński
    • , Anne L. Wyllie
    • , Aeilko H. Zwinderman
    • , Leonard H. van den Berg
    • , Wouter van Rheenen
    • , Jan H. Veldink
    • , Zitta B. Harboe
    • , Lene F. Lundbo
    • , Lisette C. P. G. M. de Groot
    • , Natasja M. van Schoor
    • , Nathalie van der Velde
    • , Lars H. Ängquist
    • , Thorkild I. A. Sørensen
    • , Ellen A. Nohr
    • , Alexander J. Mentzer
    • , Tara C. Mills
    • , Julian C. Knight
    • , Mignon du Plessis
    • , Susan Nzenze
    • , Jeffrey N. Weiser
    • , Julian Parkhill
    • , Shabir Madhi
    • , Thomas Benfield
    • , Anne von Gottberg
    • , Arie van der Ende
    • , Matthijs C. Brouwer
    • , Jeffrey C. Barrett
    • , Stephen D. Bentley
    •  & Diederik van de Beek
  • Research | | open

    In colorectal cancer (CRC), finding loci associated with risk may give insight into disease aetiology. Here, the authors report a genome-wide association analysis in Europeans of 34,627 CRC cases and 71,379 controls, and find 31 new risk loci and 17 new risk SNPs at previously reported loci.

    • Philip J. Law
    • , Maria Timofeeva
    • , Ceres Fernandez-Rozadilla
    • , Peter Broderick
    • , James Studd
    • , Juan Fernandez-Tajes
    • , Susan Farrington
    • , Victoria Svinti
    • , Claire Palles
    • , Giulia Orlando
    • , Amit Sud
    • , Amy Holroyd
    • , Steven Penegar
    • , Evropi Theodoratou
    • , Peter Vaughan-Shaw
    • , Harry Campbell
    • , Lina Zgaga
    • , Caroline Hayward
    • , Archie Campbell
    • , Sarah Harris
    • , Ian J. Deary
    • , John Starr
    • , Laura Gatcombe
    • , Maria Pinna
    • , Sarah Briggs
    • , Lynn Martin
    • , Emma Jaeger
    • , Archana Sharma-Oates
    • , James East
    • , Simon Leedham
    • , Roland Arnold
    • , Elaine Johnstone
    • , Haitao Wang
    • , David Kerr
    • , Rachel Kerr
    • , Tim Maughan
    • , Richard Kaplan
    • , Nada Al-Tassan
    • , Kimmo Palin
    • , Ulrika A. Hänninen
    • , Tatiana Cajuso
    • , Tomas Tanskanen
    • , Johanna Kondelin
    • , Eevi Kaasinen
    • , Antti-Pekka Sarin
    • , Johan G. Eriksson
    • , Harri Rissanen
    • , Paul Knekt
    • , Eero Pukkala
    • , Pekka Jousilahti
    • , Veikko Salomaa
    • , Samuli Ripatti
    • , Aarno Palotie
    • , Laura Renkonen-Sinisalo
    • , Anna Lepistö
    • , Jan Böhm
    • , Jukka-Pekka Mecklin
    • , Daniel D. Buchanan
    • , Aung-Ko Win
    • , John Hopper
    • , Mark E. Jenkins
    • , Noralane M. Lindor
    • , Polly A. Newcomb
    • , Steven Gallinger
    • , David Duggan
    • , Graham Casey
    • , Per Hoffmann
    • , Markus M. Nöthen
    • , Karl-Heinz Jöckel
    • , Douglas F. Easton
    • , Paul D. P. Pharoah
    • , Julian Peto
    • , Federico Canzian
    • , Anthony Swerdlow
    • , Rosalind A. Eeles
    • , Zsofia Kote-Jarai
    • , Kenneth Muir
    • , Nora Pashayan
    • , Brian E. Henderson
    • , Christopher A. Haiman
    • , Fredrick R. Schumacher
    • , Ali Amin Al Olama
    • , Sara Benlloch
    • , Sonja I. Berndt
    • , David V. Conti
    • , Fredrik Wiklund
    • , Stephen Chanock
    • , Susan Gapstur
    • , Victoria L. Stevens
    • , Catherine M. Tangen
    • , Jyotsna Batra
    • , Judith Clements
    • , Henrik Gronberg
    • , Johanna Schleutker
    • , Demetrius Albanes
    • , Alicja Wolk
    • , Catharine West
    • , Lorelei Mucci
    • , Géraldine Cancel-Tassin
    • , Stella Koutros
    • , Karina Dalsgaard Sorensen
    • , Eli Marie Grindedal
    • , David E. Neal
    • , Freddie C. Hamdy
    • , Jenny L. Donovan
    • , Ruth C. Travis
    • , Robert J. Hamilton
    • , Sue Ann Ingles
    • , Barry S. Rosenstein
    • , Yong-Jie Lu
    • , Graham G. Giles
    • , Adam S. Kibel
    • , Ana Vega
    • , Manolis Kogevinas
    • , Kathryn L. Penney
    • , Jong Y. Park
    • , Janet L. Stanford
    • , Cezary Cybulski
    • , Børge G. Nordestgaard
    • , Christiane Maier
    • , Jeri Kim
    • , Esther M. John
    • , Manuel R. Teixeira
    • , Susan L. Neuhausen
    • , Kim De Ruyck
    • , Azad Razack
    • , Lisa F. Newcomb
    • , Marija Gamulin
    • , Radka Kaneva
    • , Nawaid Usmani
    • , Frank Claessens
    • , Paul A. Townsend
    • , Manuela Gago-Dominguez
    • , Monique J. Roobol
    • , Florence Menegaux
    • , Kay-Tee Khaw
    • , Lisa Cannon-Albright
    • , Hardev Pandha
    • , Stephen N. Thibodeau
    • , Andrea Harkin
    • , Karen Allan
    • , John McQueen
    • , James Paul
    • , Timothy Iveson
    • , Mark Saunders
    • , Katja Butterbach
    • , Jenny Chang-Claude
    • , Michael Hoffmeister
    • , Hermann Brenner
    • , Iva Kirac
    • , Petar Matošević
    • , Philipp Hofer
    • , Stefanie Brezina
    • , Andrea Gsur
    • , Jeremy P. Cheadle
    • , Lauri A. Aaltonen
    • , Ian Tomlinson
    • , Richard S. Houlston
    •  & Malcolm G. Dunlop
  • Research | | open

    Resistance to antibiotics hampers the treatment of infectious diseases such as tuberculosis (TB). Here, Farhat et al. perform genome-wide association testing for minimum inhibitory concentration (MIC) of 12 anti-TB drugs in whole-genome sequenced clinical M. tuberculosis isolates and identify 13 genomic loci.

    • Maha R. Farhat
    • , Luca Freschi
    • , Roger Calderon
    • , Thomas Ioerger
    • , Matthew Snyder
    • , Conor J. Meehan
    • , Bouke de Jong
    • , Leen Rigouts
    • , Alex Sloutsky
    • , Devinder Kaur
    • , Shamil Sunyaev
    • , Dick van Soolingen
    • , Jay Shendure
    • , Jim Sacchettini
    •  & Megan Murray

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