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).

Latest Research and Reviews

News and Comment

  • Comments and Opinion |

    • Jennifer A Brody
    • , Alanna C Morrison
    • , Joshua C Bis
    • , Jeffrey R O'Connell
    • , Michael R Brown
    • , Jennifer E Huffman
    • , Darren C Ames
    • , Andrew Carroll
    • , Matthew P Conomos
    • , Stacey Gabriel
    • , Richard A Gibbs
    • , Stephanie M Gogarten
    • , Namrata Gupta
    • , Cashell E Jaquish
    • , Andrew D Johnson
    • , Joshua P Lewis
    • , Xiaoming Liu
    • , Alisa K Manning
    • , George J Papanicolaou
    • , Achilleas N Pitsillides
    • , Kenneth M Rice
    • , William Salerno
    • , Colleen M Sitlani
    • , Nicholas L Smith
    • , NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium
    • , The Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium
    • , TOPMed Hematology and Hemostasis Working Group
    • , CHARGE Analysis and Bioinformatics Working Group
    • , Susan R Heckbert
    • , Cathy C Laurie
    • , Braxton D Mitchell
    • , Ramachandran S Vasan
    • , Stephen S Rich
    • , Jerome I Rotter
    • , James G Wilson
    • , Eric Boerwinkle
    • , Bruce M Psaty
    •  & L Adrienne Cupples
    Nature Genetics 49, 1560–1563
  • 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