Genome-wide association studies

Definition

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 |

    Chiea Chuen Khor, Tin Aung, Francesca Pasutto, Janey Wiggs and colleagues report a global genome-wide association study of exfoliation syndrome and a fine-mapping analysis of a previously identified disease-associated locus, LOXL1. They identify a rare protective variant in LOXL1 exclusive to the Japanese population and five new common variant susceptibility loci.

    • Tin Aung
    • , Mineo Ozaki
    • , Mei Chin Lee
    • , Ursula Schlötzer-Schrehardt
    • , Gudmar Thorleifsson
    • , Takanori Mizoguchi
    • , Robert P Igo Jr
    • , Aravind Haripriya
    • , Susan E Williams
    • , Yury S Astakhov
    • , Andrew C Orr
    • , Kathryn P Burdon
    • , Satoko Nakano
    • , Kazuhiko Mori
    • , Khaled Abu-Amero
    • , Michael Hauser
    • , Zheng Li
    • , Gopalakrishnan Prakadeeswari
    • , Jessica N Cooke Bailey
    • , Alina Popa Cherecheanu
    • , Jae H Kang
    • , Sarah Nelson
    • , Ken Hayashi
    • , Shin-ichi Manabe
    • , Shigeyasu Kazama
    • , Tomasz Zarnowski
    • , Kenji Inoue
    • , Murat Irkec
    • , Miguel Coca-Prados
    • , Kazuhisa Sugiyama
    • , Irma Järvelä
    • , Patricio Schlottmann
    • , S Fabian Lerner
    • , Hasnaa Lamari
    • , Yildirim Nilgün
    • , Mukharram Bikbov
    • , Ki Ho Park
    • , Soon Cheol Cha
    • , Kenji Yamashiro
    • , Juan C Zenteno
    • , Jost B Jonas
    • , Rajesh S Kumar
    • , Shamira A Perera
    • , Anita S Y Chan
    • , Nino Kobakhidze
    • , Ronnie George
    • , Lingam Vijaya
    • , Tan Do
    • , Deepak P Edward
    • , Lourdes de Juan Marcos
    • , Mohammad Pakravan
    • , Sasan Moghimi
    • , Ryuichi Ideta
    • , Daniella Bach-Holm
    • , Per Kappelgaard
    • , Barbara Wirostko
    • , Samuel Thomas
    • , Daniel Gaston
    • , Karen Bedard
    • , Wenda L Greer
    • , Zhenglin Yang
    • , Xueyi Chen
    • , Lulin Huang
    • , Jinghong Sang
    • , Hongyan Jia
    • , Liyun Jia
    • , Chunyan Qiao
    • , Hui Zhang
    • , Xuyang Liu
    • , Bowen Zhao
    • , Ya-Xing Wang
    • , Liang Xu
    • , Stéphanie Leruez
    • , Pascal Reynier
    • , George Chichua
    • , Sergo Tabagari
    • , Steffen Uebe
    • , Matthias Zenkel
    • , Daniel Berner
    • , Georg Mossböck
    • , Nicole Weisschuh
    • , Ursula Hoja
    • , Ulrich-Christoph Welge-Luessen
    • , Christian Mardin
    • , Panayiota Founti
    • , Anthi Chatzikyriakidou
    • , Theofanis Pappas
    • , Eleftherios Anastasopoulos
    • , Alexandros Lambropoulos
    • , Arkasubhra Ghosh
    • , Rohit Shetty
    • , Natalia Porporato
    • , Vijayan Saravanan
    • , Rengaraj Venkatesh
    • , Chandrashekaran Shivkumar
    • , Narendran Kalpana
    • , Sripriya Sarangapani
    • , Mozhgan R Kanavi
    • , Afsaneh Naderi Beni
    • , Shahin Yazdani
    • , Francesca Pasutto
    • , Humaira Ayub
    • , Steffen Heegaard
    • , Héctor González-Iglesias
    • , Takako Sugimoto
    • , Satoshi Ishiko
    • , Jie Jin Wang
    • , Urszula Lukasik
    • , Çilingir Oguz
    • , Raheel Qamar
    • , Etsuo Chihara
    • , Yoko Ikeda
    • , Teresa Rolle
    • , Paolo Frezzotti
    • , Makoto Aihara
    • , Margaret A Pericak-Vance
    • , Paul Mitchell
    • , Nkiru Kizor-Akaraiwe
    • , Hip X Nguyn
    • , Francisco A Escudero-Domínguez
    • , Priti Sahay
    • , Olusola O Olawoye
    • , Markus M Nöthen
    • , Tien Yin Wong
    • , Khai Koon Heng
    • , Fumihiko Matsuda
    • , John H Fingert
    • , Boonsong Wanichwecharugruang
    • , Saleh A Al-Obeidan
    • , Erika Salvi
    • , Bilge Batu
    • , Ningli Wang
    • , Bradford J Shingleton
    • , Kazunori Miyata
    • , Abderrahman Rafei
    • , Jeeyun Ahn
    • , Eoin Silke
    • , Pedro P Rodríguez-Calvo
    • , Ewa Kosior-Jarecka
    • , Wasu Supakontanasan
    • , Craig J Chaya
    • , Raphael Q Soh
    • , Sergei Y Astakhov
    • , Shigeru Kinoshita
    • , Ohoud Owaidhah
    • , Carlo Lavia
    • , Akitoshi Yoshida
    • , Pratap Challa
    • , Farah Akhtar
    • , Giang T T Nguyn
    • , Shazia Micheal
    • , Michele Ramsay
    • , Masahiro Miyake
    • , Unnur Thorsteinsdottir
    • , Kar Seng Sim
    • , Louis R Pasquale
    • , Michael Dubina
    • , Richard A Mills
    • , Xiao Yu Ng
    • , Sidi M Ezzouhairi
    • , Hideki Chuman
    • , Chie Sotozono
    • , Ari Ziskind
    • , Emmanuelle Souzeau
    • , Ignacio Lischinsky
    • , M Roy Wilson
    • , Janey L Wiggs
    • , Montserrat García
    • , Yoshiaki Kiuchi
    • , Tomomi Higashide
    • , Shuang Ru Goh
    • , Rahat Husain
    • , Michael Coote
    • , Linda M Zangwill
    • , Fridbert Jonasson
    • , Eranga N Vithana
    • , Nkechi J Uche
    • , Burcu Kasım
    • , Eray Atalay
    • , Paolo Manunta
    • , Ching-Yu Cheng
    • , Nevbahar Tamcelik
    • , Tamara Zompa
    • , Zhicheng Xie
    • , Soumya Raychaudhuri
    • , Augustine W O Cheong
    • , Masakazu Nakano
    • , Tsutomu Ohashi
    • , Kei Tashiro
    • , Anne L Coleman
    • , Anton Emelyanov
    • , Chiea Chuen Khor
    • , Aparna Rao
    • , R Rand Allingham
    • , Alexander Binder
    • , Richard K Lee
    • , Jonathan L Haines
    • , Antonio Salas
    • , Peter Kraft
    • , Eija Vesti
    • , Martin L Hibberd
    • , Daniela S Klobassa
    • , Arthur J Sit
    • , Victor H K Yong
    • , Yaan Fun Chong
    • , Axel M Hillmer
    • , Muhammad Imran Khan
    • , Nagahisa Yoshimura
    • , Shi Qi Mok
    • , Robert Ritch
    • , Werner Zenz
    • , Periasamy Sundaresan
    • , Toshiaki Kubota
    • , Laura Dallorto
    • , Daniela Paoli
    • , Robyn M Rautenbach
    • , Naris Kitnarong
    • , Eugeny L Akopov
    • , Balram Chowbay
    • , Robert N Weinreb
    • , Daniele Cusi
    • , Masaru Inatani
    • , Kyu Hyung Park
    • , Vania Castro
    • , Su-Ling Ho
    • , Fotis Topouzis
    • , Alan Crandall
    • , Yutao Liu
    • , Osvaldo Cuello
    • , Trevor R Carmichael
    • , Jamie E Craig
    • , Marisa Cruz-Aguilar
    • , Adeyinka O Ashaye
    • , Vera Vysochinskaya
    • , Yueming Chen
    • , André Reis
    • , Homa Naderifar
    • , Pablo Fornero
    • , Chaiwat Teekhasaenee
    • , Adeola Onakoya
    • , Alex W Hewitt
    • , Kari Stefansson
    • , Anneke I den Hollander
    • , Leon Herndon
    • , Yosai Mori
    • , Jia Nee Foo
    • , Luis Fernández-Vega Cueto
    • , Delia Sivori
    • , Friedrich E Kruse
    • , Norimoto Gotoh
    • , Rinat Fayzrakhmanov
    • , Linda Hansapinyo
    • , Susanne Moebus
    • , Lydia Álvarez
    • , Jonathan G Crowston
    • , Alireza lashay
    • , Kessara Pathanapitoon
    • , Dilek Aktas
    • , Anavaj Sakuntabhai
    • , Dan Milea
    • , Frederico Martinon-Torres
    • , Morio Ueno
    • , Min Sagong
    • , Gordana Sunaric Megevand
    • , Su Qin Peh
    • , Toshiya Sakurai
    • , Nassim Khatibi
    • , Stefan Herms
    • , Hui Meng Soo
    • , Ifeoma Asimadu
    • , Tero Kivelä
    • , Rodolfo Perez Grossmann
    • , Sonia Davila
    • , Masahide Yanagi
    • , Yanin Suwan
    • , Jin Wook Jeoung
    • , Xiao Yin Chen
    • , Rachel W Kuchtey
    • , Sylvain Roy
    • , Edward Dervan
    • , Trình V Nguyn
    • , Leyla Ali Aljasim
    • , Suhanya Okeke
    • , Idakwo Ugbede
    • , John Kuchtey
    • , Rogelio González-Sarmiento
    • , Gyulli Kazakbaeva
    • , Karen Curtin
    •  & Antonio Fea
  • Research | | open

    Isolated populations can provide useful information on low-frequency variants for dissecting genetic architecture of complex traits. Here, Zeggini and colleagues show enrichment of rare and low-frequency variants and 8 novel low-frequency variant signals for cardiometabolic traits in two Greek isolated populations

    • Lorraine Southam
    • , Arthur Gilly
    • , Dániel Süveges
    • , Aliki-Eleni Farmaki
    • , Jeremy Schwartzentruber
    • , Ioanna Tachmazidou
    • , Angela Matchan
    • , Nigel W. Rayner
    • , Emmanouil Tsafantakis
    • , Maria Karaleftheri
    • , Yali Xue
    • , George Dedoussis
    •  & Eleftheria Zeggini
  • Research | | open

    Bicuspid aortic valve (BAV) is the most common human congenital cardiovascular malformation. Here, the authors perform a genome-wide association study for BAV and identify risk variants in the gene region of cardiac-specific transcription factor GATA4 and implicate GATA4 in heart valve development.

    • Bo Yang
    • , Wei Zhou
    • , Jiao Jiao
    • , Jonas B. Nielsen
    • , Michael R. Mathis
    • , Mahyar Heydarpour
    • , Guillaume Lettre
    • , Lasse Folkersen
    • , Siddharth Prakash
    • , Claudia Schurmann
    • , Lars Fritsche
    • , Gregory A. Farnum
    • , Maoxuan Lin
    • , Mohammad Othman
    • , Whitney Hornsby
    • , Anisa Driscoll
    • , Alexandra Levasseur
    • , Marc Thomas
    • , Linda Farhat
    • , Marie-Pierre Dubé
    • , Eric M. Isselbacher
    • , Anders Franco-Cereceda
    • , Dong-chuan Guo
    • , Erwin P. Bottinger
    • , G. Michael Deeb
    • , Anna Booher
    • , Sachin Kheterpal
    • , Y. Eugene Chen
    • , Hyun Min Kang
    • , Jacob Kitzman
    • , Heather J. Cordell
    • , Bernard D. Keavney
    • , Judith A. Goodship
    • , Santhi K. Ganesh
    • , Gonçalo Abecasis
    • , Kim A. Eagle
    • , Alan P. Boyle
    • , Ruth J. F. Loos
    • , Per Eriksson
    • , Jean-Claude Tardif
    • , Chad M. Brummett
    • , Dianna M. Milewicz
    • , Simon C. Body
    •  & Cristen J. Willer
  • Research | | open

    Endometriosis is a major cause of infertility. Molecular mechanisms underlying the disease involve genetic and environmental risk factors. In a meta-analysis of eleven GWA studies, Sapkota and colleagues identify five novel risk loci, implicating steroid sex hormone pathways in the pathogenesis.

    • Yadav Sapkota
    • , Valgerdur Steinthorsdottir
    • , Andrew P. Morris
    • , Amelie Fassbender
    • , Nilufer Rahmioglu
    • , Immaculata De Vivo
    • , Julie E. Buring
    • , Futao Zhang
    • , Todd L. Edwards
    • , Sarah Jones
    • , Dorien O
    • , Daniëlle Peterse
    • , Kathryn M. Rexrode
    • , Paul M. Ridker
    • , Andrew J. Schork
    • , Stuart MacGregor
    • , Nicholas G. Martin
    • , Christian M. Becker
    • , Sosuke Adachi
    • , Kosuke Yoshihara
    • , Takayuki Enomoto
    • , Atsushi Takahashi
    • , Yoichiro Kamatani
    • , Koichi Matsuda
    • , Michiaki Kubo
    • , Gudmar Thorleifsson
    • , Reynir T. Geirsson
    • , Unnur Thorsteinsdottir
    • , Leanne M. Wallace
    • , iPSYCH-SSI-Broad Group
    • , Thomas M. Werge
    • , Wesley K. Thompson
    • , Jian Yang
    • , Digna R. Velez Edwards
    • , Mette Nyegaard
    • , Siew-Kee Low
    • , Krina T. Zondervan
    • , Stacey A. Missmer
    • , Thomas D'Hooghe
    • , Grant W. Montgomery
    • , Daniel I. Chasman
    • , Kari Stefansson
    • , Joyce Y. Tung
    •  & Dale R. Nyholt
  • Research |

    Danielle Posthuma and colleagues perform a large meta-analysis for intelligence and determine genetic overlap with several neuropsychiatric and metabolic traits. They find 15 new significant loci and implicate 40 new genes, most of which are predominantly expressed in the brain.

    • Suzanne Sniekers
    • , Sven Stringer
    • , Kyoko Watanabe
    • , Philip R Jansen
    • , Jonathan R I Coleman
    • , Eva Krapohl
    • , Erdogan Taskesen
    • , Anke R Hammerschlag
    • , Aysu Okbay
    • , Delilah Zabaneh
    • , Najaf Amin
    • , Gerome Breen
    • , David Cesarini
    • , Christopher F Chabris
    • , William G Iacono
    • , M Arfan Ikram
    • , Magnus Johannesson
    • , Philipp Koellinger
    • , James J Lee
    • , Patrik K E Magnusson
    • , Matt McGue
    • , Mike B Miller
    • , William E R Ollier
    • , Antony Payton
    • , Neil Pendleton
    • , Robert Plomin
    • , Cornelius A Rietveld
    • , Henning Tiemeier
    • , Cornelia M van Duijn
    •  & Danielle Posthuma
  • Research |

    Joanna Howson and colleagues perform a genome-wide association study and meta-analysis for coronary artery disease in large, trans-ancestry cohorts. They identify 15 new loci and correlate these regions with cell-type-specific gene expression and plasma protein levels to find novel pathways and potential mechanisms of disease.

    • Joanna M M Howson
    • , Wei Zhao
    • , Daniel R Barnes
    • , Weang-Kee Ho
    • , Robin Young
    • , Dirk S Paul
    • , Lindsay L Waite
    • , Daniel F Freitag
    • , Eric B Fauman
    • , Elias L Salfati
    • , Benjamin B Sun
    • , John D Eicher
    • , Andrew D Johnson
    • , Wayne H H Sheu
    • , Sune F Nielsen
    • , Wei-Yu Lin
    • , Praveen Surendran
    • , Anders Malarstig
    • , Jemma B Wilk
    • , Anne Tybjærg-Hansen
    • , Katrine L Rasmussen
    • , Pia R Kamstrup
    • , Panos Deloukas
    • , Jeanette Erdmann
    • , Sekar Kathiresan
    • , Nilesh J Samani
    • , Heribert Schunkert
    • , Hugh Watkins
    • , CARDIoGRAMplusC4D
    • , Ron Do
    • , Daniel J Rader
    • , Julie A Johnson
    • , Stanley L Hazen
    • , Arshed A Quyyumi
    • , John A Spertus
    • , Carl J Pepine
    • , Nora Franceschini
    • , Anne Justice
    • , Alex P Reiner
    • , Steven Buyske
    • , Lucia A Hindorff
    • , Cara L Carty
    • , Kari E North
    • , Charles Kooperberg
    • , Eric Boerwinkle
    • , Kristin Young
    • , Mariaelisa Graff
    • , Ulrike Peters
    • , Devin Absher
    • , Chao A Hsiung
    • , Wen-Jane Lee
    • , Kent D Taylor
    • , Ying-Hsiang Chen
    • , I-Te Lee
    • , Xiuqing Guo
    • , Ren-Hua Chung
    • , Yi-Jen Hung
    • , Jerome I Rotter
    • , Jyh-Ming J Juang
    • , Thomas Quertermous
    • , Tzung-Dau Wang
    • , Asif Rasheed
    • , Philippe Frossard
    • , Dewan S Alam
    • , Abdulla al Shafi Majumder
    • , Emanuele Di Angelantonio
    • , Rajiv Chowdhury
    • , EPIC-CVD
    • , Yii-Der Ida Chen
    • , Børge G Nordestgaard
    • , Themistocles L Assimes
    • , John Danesh
    • , Adam S Butterworth
    •  & Danish Saleheen

News and Comment