Genetic association study

Definition

A genetic association study aims to test whether a given sequence, such as a region of a chromosome, a haplotype, a gene, or an allele, has involvement in controlling the phenotype of a specific trait, metabolic pathway, or disease. This usually involves comparing genotypes from two groups of individuals (often diseased subjects and healthy controls).

Featured

Latest Research and Reviews

  • Research | | open

    Amyotrophic lateral sclerosis (ALS) is a rapidly progressing neurodegenerative disease. Here, Wray and colleagues identify association of the GPX3-TNIP1 locus with ALS using cross-ethnic meta-analyses.

    • Beben Benyamin
    • , Ji He
    • , Qiongyi Zhao
    • , Jacob Gratten
    • , Fleur Garton
    • , Paul J. Leo
    • , Zhijun Liu
    • , Marie Mangelsdorf
    • , Ammar Al-Chalabi
    • , Lisa Anderson
    • , Timothy J. Butler
    • , Lu Chen
    • , Xiang-Ding Chen
    • , Katie Cremin
    • , Hong-Weng Deng
    • , Matthew Devine
    • , Janette Edson
    • , Jennifer A. Fifita
    • , Sarah Furlong
    • , Ying-Ying Han
    • , Jessica Harris
    • , Anjali K. Henders
    • , Rosalind L. Jeffree
    • , Zi-Bing Jin
    • , Zhongshan Li
    • , Ting Li
    • , Mengmeng Li
    • , Yong Lin
    • , Xiaolu Liu
    • , Mhairi Marshall
    • , Emily P. McCann
    • , Bryan J. Mowry
    • , Shyuan T. Ngo
    • , Roger Pamphlett
    • , Shu Ran
    • , David C. Reutens
    • , Dominic B. Rowe
    • , Perminder Sachdev
    • , Sonia Shah
    • , Sharon Song
    • , Li-Jun Tan
    • , Lu Tang
    • , Leonard H. Berg
    • , Wouter Rheenen
    • , Jan H. Veldink
    • , Robyn H. Wallace
    • , Lawrie Wheeler
    • , Kelly L. Williams
    • , Jinyu Wu
    • , Xin Wu
    • , Jian Yang
    • , Weihua Yue
    • , Zong-Hong Zhang
    • , Dai Zhang
    • , Peter G. Noakes
    • , Ian P. Blair
    • , Robert D. Henderson
    • , Pamela A. McCombe
    • , Peter M. Visscher
    • , Huji Xu
    • , Perry F. Bartlett
    • , Matthew A. Brown
    • , Naomi R. Wray
    •  & Dongsheng Fan
  • Research | | open

    Susceptibility to infectious diseases is, among others, influenced by the genetic landscape of the host. Here, Tian and colleagues perform genome-wide association studies for 23 common infections and find 59 risk loci for 17 of these, both within the HLA region and non-HLA loci.

    • Chao Tian
    • , Bethann S. Hromatka
    • , Amy K. Kiefer
    • , Nicholas Eriksson
    • , Suzanne M. Noble
    • , Joyce Y. Tung
    •  & David A. Hinds
  • Research | | open

    Chromosomal abnormalities such as 11q deletion are associated with poor prognosis in neuroblastoma. Here, the authors perform a genome-wide association study and identify an association between a variant within a Matrix metalloproteinase (MMP) gene member, MMP20, and 11q-deletion subtype neuroblastoma.

    • Xiao Chang
    • , Yan Zhao
    • , Cuiping Hou
    • , Joseph Glessner
    • , Lee McDaniel
    • , Maura A. Diamond
    • , Kelly Thomas
    • , Jin Li
    • , Zhi Wei
    • , Yichuan Liu
    • , Yiran Guo
    • , Frank D. Mentch
    • , Haijun Qiu
    • , Cecilia Kim
    • , Perry Evans
    • , Zalman Vaksman
    • , Sharon J. Diskin
    • , Edward F. Attiyeh
    • , Patrick Sleiman
    • , John M. Maris
    •  & Hakon Hakonarson
  • Research |

    Robert Graham and colleagues carried out a GWAS meta-analysis for Parkinson's disease (PD) and report 17 new risk loci. Their analyses support a key role for autophagy and lysosomal biology in PD risk.

    • Diana Chang
    • , Mike A Nalls
    • , Ingileif B Hallgrímsdóttir
    • , Julie Hunkapiller
    • , Marcel van der Brug
    • , Fang Cai
    • , International Parkinson's Disease Genomics Consortium
    • , 23andMe Research Team
    • , Geoffrey A Kerchner
    • , Gai Ayalon
    • , Baris Bingol
    • , Morgan Sheng
    • , David Hinds
    • , Timothy W Behrens
    • , Andrew B Singleton
    • , Tushar R Bhangale
    •  & Robert R Graham

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 |

    The remarkable diversity in sperm morphology and performance in zebra finches is generated by a supergene on a sex chromosome and maintained by a heterozygous advantage.

    • Heidi S. Fisher