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 | | open

    Food allergy is an increasing public health problem. In a genome-wide scan of children diagnosed by oral food challenge, Marenholz et al. find new genetic associations underlying food allergy, implicating the immune system and the epithelial barrier.

    • Ingo Marenholz
    • , Sarah Grosche
    • , Birgit Kalb
    • , Franz Rüschendorf
    • , Katharina Blümchen
    • , Rupert Schlags
    • , Neda Harandi
    • , Mareike Price
    • , Gesine Hansen
    • , Jürgen Seidenberg
    • , Holger Röblitz
    • , Songül Yürek
    • , Sebastian Tschirner
    • , Xiumei Hong
    • , Xiaobin Wang
    • , Georg Homuth
    • , Carsten O. Schmidt
    • , Markus M. Nöthen
    • , Norbert Hübner
    • , Bodo Niggemann
    • , Kirsten Beyer
    •  & Young-Ae Lee
  • Research |

    Analysis of a large bread-wheat genomic data set through a quantitative genetic framework designed to study the genetic basis of heterosis shows that hybrids outperform midparents in grain yield by 10%. Genome-wide prediction and association mapping indicate that epistasis plays a significant role in heterosis of grain yield in wheat.

    • Yong Jiang
    • , Renate H Schmidt
    • , Yusheng Zhao
    •  & Jochen C Reif
  • Research | | open

    Variability in human longevity is genetically influenced. Using genetic data of parental lifespan, the authors identify associations at HLA-DQA/DRB1 and LPA and find that genetic variants that increase educational attainment have a positive effect on lifespan whereas increasing BMI negatively affects lifespan.

    • Peter K. Joshi
    • , Nicola Pirastu
    • , Katherine A. Kentistou
    • , Krista Fischer
    • , Edith Hofer
    • , Katharina E. Schraut
    • , David W. Clark
    • , Teresa Nutile
    • , Catriona L. K. Barnes
    • , Paul R. H. J. Timmers
    • , Xia Shen
    • , Ilaria Gandin
    • , Aaron F. McDaid
    • , Thomas Folkmann Hansen
    • , Scott D. Gordon
    • , Franco Giulianini
    • , Thibaud S. Boutin
    • , Abdel Abdellaoui
    • , Wei Zhao
    • , Carolina Medina-Gomez
    • , Traci M. Bartz
    • , Stella Trompet
    • , Leslie A. Lange
    • , Laura Raffield
    • , Ashley Spek
    • , Tessel E. Galesloot
    • , Petroula Proitsi
    • , Lisa R. Yanek
    • , Lawrence F. Bielak
    • , Antony Payton
    • , Federico Murgia
    • , Maria Pina Concas
    • , Ginevra Biino
    • , Salman M. Tajuddin
    • , Ilkka Seppälä
    • , Najaf Amin
    • , Eric Boerwinkle
    • , Anders D. Børglum
    • , Archie Campbell
    • , Ellen W. Demerath
    • , Ilja Demuth
    • , Jessica D. Faul
    • , Ian Ford
    • , Alessandro Gialluisi
    • , Martin Gögele
    • , MariaElisa Graff
    • , Aroon Hingorani
    • , Jouke-Jan Hottenga
    • , David M. Hougaard
    • , Mikko A. Hurme
    • , M. Arfan Ikram
    • , Marja Jylhä
    • , Diana Kuh
    • , Lannie Ligthart
    • , Christina M. Lill
    • , Ulman Lindenberger
    • , Thomas Lumley
    • , Reedik Mägi
    • , Pedro Marques-Vidal
    • , Sarah E. Medland
    • , Lili Milani
    • , Reka Nagy
    • , William E. R. Ollier
    • , Patricia A. Peyser
    • , Peter P. Pramstaller
    • , Paul M. Ridker
    • , Fernando Rivadeneira
    • , Daniela Ruggiero
    • , Yasaman Saba
    • , Reinhold Schmidt
    • , Helena Schmidt
    • , P. Eline Slagboom
    • , Blair H. Smith
    • , Jennifer A. Smith
    • , Nona Sotoodehnia
    • , Elisabeth Steinhagen-Thiessen
    • , Frank J. A. Rooij
    • , André L. Verbeek
    • , Sita H. Vermeulen
    • , Peter Vollenweider
    • , Yunpeng Wang
    • , Thomas Werge
    • , John B. Whitfield
    • , Alan B. Zonderman
    • , Terho Lehtimäki
    • , Michele K. Evans
    • , Mario Pirastu
    • , Christian Fuchsberger
    • , Lars Bertram
    • , Neil Pendleton
    • , Sharon L. R. Kardia
    • , Marina Ciullo
    • , Diane M. Becker
    • , Andrew Wong
    • , Bruce M. Psaty
    • , Cornelia M. Duijn
    • , James G. Wilson
    • , J. Wouter Jukema
    • , Lambertus Kiemeney
    • , André G. Uitterlinden
    • , Nora Franceschini
    • , Kari E. North
    • , David R. Weir
    • , Andres Metspalu
    • , Dorret I. Boomsma
    • , Caroline Hayward
    • , Daniel Chasman
    • , Nicholas G. Martin
    • , Naveed Sattar
    • , Harry Campbell
    • , Tōnu Esko
    • , Zoltán Kutalik
    •  & James F. Wilson
  • Research |

    A genome-wide association analysis using data from Chinese individuals combined with a transethnic meta-analysis of Psychiatry Genomics Consortium data identifies 30 new loci for schizophrenia. These analyses improve the fine-mapping of susceptibility loci and implicate multiple pathways in schizophrenia biology.

    • Zhiqiang Li
    • , Jianhua Chen
    • , Hao Yu
    • , Lin He
    • , Yifeng Xu
    • , Dai Zhang
    • , Qizhong Yi
    • , Changgui Li
    • , Xingwang Li
    • , Jiawei Shen
    • , Zhijian Song
    • , Weidong Ji
    • , Meng Wang
    • , Juan Zhou
    • , Boyu Chen
    • , Yahui Liu
    • , Jiqiang Wang
    • , Peng Wang
    • , Ping Yang
    • , Qingzhong Wang
    • , Guoyin Feng
    • , Benxiu Liu
    • , Wensheng Sun
    • , Baojie Li
    • , Guang He
    • , Weidong Li
    • , Chunling Wan
    • , Qi Xu
    • , Wenjin Li
    • , Zujia Wen
    • , Ke Liu
    • , Fang Huang
    • , Jue Ji
    • , Stephan Ripke
    • , Weihua Yue
    • , Patrick F Sullivan
    • , Michael C O'Donovan
    •  & Yongyong Shi

News and Comment

  • News and Views |

    Pre-eclampsia is a common disorder of pregnancy for which the underlying mechanism is poorly understood. A genome-wide association study has now identified a pre-eclampsia susceptibility locus located near the FLT1 gene. This study brings us a step closer to dissecting the underlying causes of pre-eclampsia.

    • Eric M. George
    •  & Joey P. Granger
  • News and Views |

    An innovative study analyzing genetic association across tree-structured routine healthcare data in the UK Biobank represents a new branch on a tree that is poised to grow rapidly and offer new kinds of insights on how genome variation relates to human health and disease. Indeed, this tree is likely to offer new kinds of insights into the very nature of human disease.

    • Nancy J Cox
    Nature Genetics 49, 1295–1296
  • News and Views |

    Genetic and functional analyses of 120 mouse strains have identified a heart regeneration candidate gene that modulates the contractile sarcomeric apparatus. This gene, Tnni3k, controls the frequency of the mononuclear, diploid cardiomyocyte population, which affects cardiomyocyte proliferative potential after injury.

    • Ana Vujic
    • , Vinícius Bassaneze
    •  & Richard T Lee
    Nature Genetics 49, 1292–1293
  • News |

    This month's Genome Watch discusses how genome-wide epistasis analysis and genome-to-genome analyses are providing insights into the relevance of interactions between and within genomes of pathogens and their hosts.

    • John A. Lees
    • , Gerry Tonkin-Hill
    •  & Stephen D. Bentley
  • News and Views |

    An unbiased genome-to-genome analysis in chronic hepatitis C virus (HCV) infection confirms the innate and adaptive arms of the immune system as drivers of viral evolution. Viral adaptation has a critical role in the interaction between host and pathogen and has important clinical implications for infection outcome.

    • Silvana Gaudieri
    •  & Michaela Lucas
    Nature Genetics 49, 657–658