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 Access

    Gen Sobue, Masao Nagasaki and colleagues report a genome-wide association study for amyotrophic lateral sclerosis (ALS) in a large, multi-ethnic cohort comprising Japanese, Chinese, and European ancestry populations. They find a significant association to variants within the ACSL5 gene and identify novel associations with 4 additional genes using a gene-based approach.

    • Ryoichi Nakamura
    • , Kazuharu Misawa
    • , Genki Tohnai
    • , Masahiro Nakatochi
    • , Sho Furuhashi
    • , Naoki Atsuta
    • , Naoki Hayashi
    • , Daichi Yokoi
    • , Hazuki Watanabe
    • , Hirohisa Watanabe
    • , Masahisa Katsuno
    • , Yuishin Izumi
    • , Kazuaki Kanai
    • , Nobutaka Hattori
    • , Mitsuya Morita
    • , Akira Taniguchi
    • , Osamu Kano
    • , Masaya Oda
    • , Kazumoto Shibuya
    • , Satoshi Kuwabara
    • , Naoki Suzuki
    • , Masashi Aoki
    • , Yasuyuki Ohta
    • , Toru Yamashita
    • , Koji Abe
    • , Rina Hashimoto
    • , Ikuko Aiba
    • , Koichi Okamoto
    • , Kouichi Mizoguchi
    • , Kazuko Hasegawa
    • , Yohei Okada
    • , Tomohiko Ishihara
    • , Osamu Onodera
    • , Kenji Nakashima
    • , Ryuji Kaji
    • , Yoichiro Kamatani
    • , Shiro Ikegawa
    • , Yukihide Momozawa
    • , Michiaki Kubo
    • , Noriko Ishida
    • , Naoko Minegishi
    • , Masao Nagasaki
    •  & Gen Sobue
  • Research
    | Open Access

    Despite the identification of genetic risk loci for late-onset Alzheimer’s disease (LOAD), the genetic architecture and prediction remains unclear. Here, the authors use genetic risk scores for prediction of LOAD across three datasets and show evidence suggesting oligogenic variant architecture for this disease.

    • Qian Zhang
    • , Julia Sidorenko
    • , Baptiste Couvy-Duchesne
    • , Riccardo E. Marioni
    • , Margaret J. Wright
    • , Alison M. Goate
    • , Edoardo Marcora
    • , Kuan-lin Huang
    • , Tenielle Porter
    • , Simon M. Laws
    • , Colin L. Masters
    • , Ashley I. Bush
    • , Christopher Fowler
    • , David Darby
    • , Kelly Pertile
    • , Carolina Restrepo
    • , Blaine Roberts
    • , Jo Robertson
    • , Rebecca Rumble
    • , Tim Ryan
    • , Steven Collins
    • , Christine Thai
    • , Brett Trounson
    • , Kate Lennon
    • , Qiao-Xin Li
    • , Fernanda Yevenes Ugarte
    • , Irene Volitakis
    • , Michael Vovos
    • , Rob Williams
    • , Jenalle Baker
    • , Alyce Russell
    • , Madeline Peretti
    • , Lidija Milicic
    • , Lucy Lim
    • , Mark Rodrigues
    • , Kevin Taddei
    • , Tania Taddei
    • , Eugene Hone
    • , Florence Lim
    • , Shane Fernandez
    • , Stephanie Rainey-Smith
    • , Steve Pedrini
    • , Ralph Martins
    • , James Doecke
    • , Pierrick Bourgeat
    • , Jurgen Fripp
    • , Simon Gibson
    • , Hugo Leroux
    • , David Hanson
    • , Vincent Dore
    • , Ping Zhang
    • , Samantha Burnham
    • , Christopher C. Rowe
    • , Victor L. Villemagne
    • , Paul Yates
    • , Sveltana Bozin Pejoska
    • , Gareth Jones
    • , David Ames
    • , Elizabeth Cyarto
    • , Nicola Lautenschlager
    • , Kevin Barnham
    • , Lesley Cheng
    • , Andy Hill
    • , Neil Killeen
    • , Paul Maruff
    • , Brendan Silbert
    • , Belinda Brown
    • , Harmid Sohrabi
    • , Greg Savage
    • , Michael Vacher
    • , Perminder S. Sachdev
    • , Karen A. Mather
    • , Nicola J. Armstrong
    • , Anbupalam Thalamuthu
    • , Henry Brodaty
    • , Loic Yengo
    • , Jian Yang
    • , Naomi R. Wray
    • , Allan F. McRae
    •  & Peter M. Visscher
  • Research
    | Open Access

    Cortex morphology varies with age, cognitive function, and in neurological and psychiatric diseases. Here the authors report 160 genome-wide significant associations with thickness, surface area and volume of the total cortex and 34 cortical regions from a GWAS meta-analysis in 22,824 adults.

    • Edith Hofer
    • , Gennady V. Roshchupkin
    • , Hieab H. H. Adams
    • , Maria J. Knol
    • , Honghuang Lin
    • , Shuo Li
    • , Habil Zare
    • , Shahzad Ahmad
    • , Nicola J. Armstrong
    • , Claudia L. Satizabal
    • , Manon Bernard
    • , Joshua C. Bis
    • , Nathan A. Gillespie
    • , Michelle Luciano
    • , Aniket Mishra
    • , Markus Scholz
    • , Alexander Teumer
    • , Rui Xia
    • , Xueqiu Jian
    • , Thomas H. Mosley
    • , Yasaman Saba
    • , Lukas Pirpamer
    • , Stephan Seiler
    • , James T. Becker
    • , Owen Carmichael
    • , Jerome I. Rotter
    • , Bruce M. Psaty
    • , Oscar L. Lopez
    • , Najaf Amin
    • , Sven J. van der Lee
    • , Qiong Yang
    • , Jayandra J. Himali
    • , Pauline Maillard
    • , Alexa S. Beiser
    • , Charles DeCarli
    • , Sherif Karama
    • , Lindsay Lewis
    • , Mat Harris
    • , Mark E. Bastin
    • , Ian J. Deary
    • , A. Veronica Witte
    • , Frauke Beyer
    • , Markus Loeffler
    • , Karen A. Mather
    • , Peter R. Schofield
    • , Anbupalam Thalamuthu
    • , John B. Kwok
    • , Margaret J. Wright
    • , David Ames
    • , Julian Trollor
    • , Jiyang Jiang
    • , Henry Brodaty
    • , Wei Wen
    • , Meike W. Vernooij
    • , Albert Hofman
    • , André G. Uitterlinden
    • , Wiro J. Niessen
    • , Katharina Wittfeld
    • , Robin Bülow
    • , Uwe Völker
    • , Zdenka Pausova
    • , G. Bruce Pike
    • , Sophie Maingault
    • , Fabrice Crivello
    • , Christophe Tzourio
    • , Philippe Amouyel
    • , Bernard Mazoyer
    • , Michael C. Neale
    • , Carol E. Franz
    • , Michael J. Lyons
    • , Matthew S. Panizzon
    • , Ole A. Andreassen
    • , Anders M. Dale
    • , Mark Logue
    • , Katrina L. Grasby
    • , Neda Jahanshad
    • , Jodie N. Painter
    • , Lucía Colodro-Conde
    • , Janita Bralten
    • , Derrek P. Hibar
    • , Penelope A. Lind
    • , Fabrizio Pizzagalli
    • , Jason L. Stein
    • , Paul M. Thompson
    • , Sarah E. Medland
    • , Katrina L. Grasby
    • , Neda Jahanshad
    • , Jodie N. Painter
    • , Lucía Colodro-Conde
    • , Janita Bralten
    • , Derrek P. Hibar
    • , Penelope A. Lind
    • , Fabrizio Pizzagalli
    • , Christopher R. K. Ching
    • , Mary Agnes B. McMahon
    • , Natalia Shatokhina
    • , Leo C. P. Zsembik
    • , Ingrid Agartz
    • , Saud Alhusaini
    • , Marcio A. A. Almeida
    • , Dag Alnæs
    • , Inge K. Amlien
    • , Micael Andersson
    • , Tyler Ard
    • , Nicola J. Armstrong
    • , Allison Ashley-Koch
    • , Manon Bernard
    • , Rachel M. Brouwer
    • , Elizabeth E. L. Buimer
    • , Robin Bülow
    • , Christian Bürger
    • , Dara M. Cannon
    • , Mallar Chakravarty
    • , Qiang Chen
    • , Joshua W. Cheung
    • , Baptiste Couvy-Duchesne
    • , Anders M. Dale
    • , Shareefa Dalvie
    • , Tânia K. de Araujo
    • , Greig I. de Zubicaray
    • , Sonja M. C. de Zwarte
    • , Anouk den Braber
    • , Nhat Trung Doan
    • , Katharina Dohm
    • , Stefan Ehrlich
    • , Hannah-Ruth Engelbrecht
    • , Susanne Erk
    • , Chun Chieh Fan
    • , Iryna O. Fedko
    • , Sonya F. Foley
    • , Judith M. Ford
    • , Masaki Fukunaga
    • , Melanie E. Garrett
    • , Tian Ge
    • , Sudheer Giddaluru
    • , Aaron L. Goldman
    • , Nynke A. Groenewold
    • , Dominik Grotegerd
    • , Tiril P. Gurholt
    • , Boris A. Gutman
    • , Narelle K. Hansell
    • , Mathew A. Harris
    • , Marc B. Harrison
    • , Courtney C. Haswell
    • , Michael Hauser
    • , Stefan Herms
    • , Dirk J. Heslenfeld
    • , New Fei Ho
    • , David Hoehn
    • , Per Hoffmann
    • , Laurena Holleran
    • , Martine Hoogman
    • , Jouke-Jan Hottenga
    • , Masashi Ikeda
    • , Deborah Janowitz
    • , Iris E. Jansen
    • , Tianye Jia
    • , Christiane Jockwitz
    • , Ryota Kanai
    • , Sherif Karama
    • , Dalia Kasperaviciute
    • , Tobias Kaufmann
    • , Sinead Kelly
    • , Masataka Kikuchi
    • , Marieke Klein
    • , Michael Knapp
    • , Annchen R. Knodt
    • , Bernd Krämer
    • , Max Lam
    • , Thomas M. Lancaster
    • , Phil H. Lee
    • , Tristram A. Lett
    • , Lindsay B. Lewis
    • , Iscia Lopes-Cendes
    • , Michelle Luciano
    • , Fabio Macciardi
    • , Andre F. Marquand
    • , Samuel R. Mathias
    • , Tracy R. Melzer
    • , Yuri Milaneschi
    • , Nazanin Mirza-Schreiber
    • , Jose C. V. Moreira
    • , Thomas W. Mühleisen
    • , Bertram Müller-Myhsok
    • , Pablo Najt
    • , Soichiro Nakahara
    • , Kwangsik Nho
    • , Loes M. Olde Loohuis
    • , Dimitri Papadopoulos Orfanos
    • , John F. Pearson
    • , Toni L. Pitcher
    • , Benno Pütz
    • , Anjanibhargavi Ragothaman
    • , Faisal M. Rashid
    • , Ronny Redlich
    • , Céline S. Reinbold
    • , Jonathan Repple
    • , Geneviève Richard
    • , Brandalyn C. Riedel
    • , Shannon L. Risacher
    • , Cristiane S. Rocha
    • , Nina Roth Mota
    • , Lauren Salminen
    • , Arvin Saremi
    • , Andrew J. Saykin
    • , Fenja Schlag
    • , Lianne Schmaal
    • , Peter R. Schofield
    • , Rodrigo Secolin
    • , Chin Yang Shapland
    • , Li Shen
    • , Jean Shin
    • , Elena Shumskaya
    • , Ida E. Sønderby
    • , Emma Sprooten
    • , Lachlan T. Strike
    • , Katherine E. Tansey
    • , Alexander Teumer
    • , Anbupalam Thalamuthu
    • , Sophia I. Thomopoulos
    • , Diana Tordesillas-Gutiérrez
    • , Jessica A. Turner
    • , Anne Uhlmann
    • , Costanza Ludovica Vallerga
    • , Dennis van der Meer
    • , Marjolein M. J. van Donkelaar
    • , Liza van Eijk
    • , Theo G. M. van Erp
    • , Neeltje E. M. van Haren
    • , Daan van Rooij
    • , Marie-José van Tol
    • , Jan H. Veldink
    • , Ellen Verhoef
    • , Esther Walton
    • , Mingyuan Wang
    • , Yunpeng Wang
    • , Joanna M. Wardlaw
    • , Wei Wen
    • , Lars T. Westlye
    • , Christopher D. Whelan
    • , Stephanie H. Witt
    • , Katharina Wittfeld
    • , Christiane Wolf
    • , Thomas Wolfers
    • , Clarissa L. Yasuda
    • , Dario Zaremba
    • , Zuo Zhang
    • , Alyssa H. Zhu
    • , Marcel P. Zwiers
    • , Eric Artiges
    • , Amelia A. Assareh
    • , Rosa Ayesa-Arriola
    • , Aysenil Belger
    • , Christine L. Brandt
    • , Gregory G. Brown
    • , Sven Cichon
    • , Joanne E. Curran
    • , Gareth E. Davies
    • , Franziska Degenhardt
    • , Bruno Dietsche
    • , Srdjan Djurovic
    • , Colin P. Doherty
    • , Ryan Espiritu
    • , Daniel Garijo
    • , Yolanda Gil
    • , Penny A. Gowland
    • , Robert C. Green
    • , Alexander N. Häusler
    • , Walter Heindel
    • , Beng-Choon Ho
    • , Wolfgang U. Hoffmann
    • , Florian Holsboer
    • , Georg Homuth
    • , Norbert Hosten
    • , Clifford R. Jack Jr
    • , MiHyun Jang
    • , Andreas Jansen
    • , Knut Kolskår
    • , Sanne Koops
    • , Axel Krug
    • , Kelvin O. Lim
    • , Jurjen J. Luykx
    • , Daniel H. Mathalon
    • , Karen A. Mather
    • , Venkata S. Mattay
    • , Sarah Matthews
    • , Jaqueline Mayoral Van Son
    • , Sarah C. McEwen
    • , Ingrid Melle
    • , Derek W. Morris
    • , Bryon A. Mueller
    • , Matthias Nauck
    • , Jan E. Nordvik
    • , Markus M. Nöthen
    • , Daniel S. O’Leary
    • , Nils Opel
    • , Marie -. Laure Paillère Martinot
    • , G. Bruce Pike
    • , Adrian Preda
    • , Erin B. Quinlan
    • , Varun Ratnakar
    • , Simone Reppermund
    • , Vidar M. Steen
    • , Fábio R. Torres
    • , Dick J. Veltman
    • , James T. Voyvodic
    • , Robert Whelan
    • , Tonya White
    • , Hidenaga Yamamori
    • , Marina K. M. Alvim
    • , David Ames
    • , Tim J. Anderson
    • , Ole A. Andreassen
    • , Alejandro Arias-Vasquez
    • , Mark E. Bastin
    • , Bernhard T. Baune
    • , John Blangero
    • , Dorret I. Boomsma
    • , Henry Brodaty
    • , Han G. Brunner
    • , Randy L. Buckner
    • , Jan K. Buitelaar
    • , Juan R. Bustillo
    • , Wiepke Cahn
    • , Vince Calhoun
    • , Xavier Caseras
    • , Svenja Caspers
    • , Gianpiero L. Cavalleri
    • , Fernando Cendes
    • , Aiden Corvin
    • , Benedicto Crespo-Facorro
    • , John C. Dalrymple-Alford
    • , Udo Dannlowski
    • , Eco J. C. de Geus
    • , Ian J. Deary
    • , Norman Delanty
    • , Chantal Depondt
    • , Sylvane Desrivières
    • , Gary Donohoe
    • , Thomas Espeseth
    • , Guillén Fernández
    • , Simon E. Fisher
    • , Herta Flor
    • , Andreas J. Forstner
    • , Clyde Francks
    • , Barbara Franke
    • , David C. Glahn
    • , Randy L. Gollub
    • , Hans J. Grabe
    • , Oliver Gruber
    • , Asta K. Håberg
    • , Ahmad R. Hariri
    • , Catharina A. Hartman
    • , Ryota Hashimoto
    • , Andreas Heinz
    • , Manon H. J. Hillegers
    • , Pieter J. Hoekstra
    • , Avram J. Holmes
    • , L. Elliot Hong
    • , William D. Hopkins
    • , Hilleke E. Hulshoff Pol
    • , Terry L. Jernigan
    • , Erik G. Jönsson
    • , René S. Kahn
    • , Martin A. Kennedy
    • , Tilo T. J. Kircher
    • , Peter Kochunov
    • , John B. J. Kwok
    • , Stephanie Le Hellard
    • , Nicholas G. Martin
    • , Jean -. Luc Martinot
    • , Colm McDonald
    • , Katie L. McMahon
    • , Andreas Meyer-Lindenberg
    • , Rajendra A. Morey
    • , Lars Nyberg
    • , Jaap Oosterlaan
    • , Roel A. Ophoff
    • , Tomáš Paus
    • , Zdenka Pausova
    • , Brenda W. J. H. Penninx
    • , Tinca J. C. Polderman
    • , Danielle Posthuma
    • , Marcella Rietschel
    • , Joshua L. Roffman
    • , Laura M. Rowland
    • , Perminder S. Sachdev
    • , Philipp G. Sämann
    • , Gunter Schumann
    • , Kang Sim
    • , Sanjay M. Sisodiya
    • , Jordan W. Smoller
    • , Iris E. Sommer
    • , Beate St Pourcain
    • , Dan J. Stein
    • , Arthur W. Toga
    • , Julian N. Trollor
    • , Nic J. A. Van der Wee
    • , Dennis van ’t Ent
    • , Henry Völzke
    • , Henrik Walter
    • , Bernd Weber
    • , Daniel R. Weinberger
    • , Margaret J. Wright
    • , Juan Zhou
    • , Jason L. Stein
    • , Paul M. Thompson
    • , Sarah E. Medland
    • , Perminder S. Sachdev
    • , William S. Kremen
    • , Joanna M. Wardlaw
    • , Arno Villringer
    • , Cornelia M. van Duijn
    • , Hans J. Grabe
    • , William T. Longstreth Jr
    • , Myriam Fornage
    • , Tomas Paus
    • , Stephanie Debette
    • , M. Arfan Ikram
    • , Helena Schmidt
    • , Reinhold Schmidt
    •  & Sudha Seshadri

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