Genetic association study

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

  • Editorial | | open

    Communications Biology celebrates its 1 year anniversary of publishing advances across the biological sciences. Here we review our first year of publishing and look forward to what we hope to achieve in the years to come.

  • Research Highlights |

    A study in Nature Genetics reports the first genome-wide significant loci for attention deficit/hyperactivity disorder and implicates biologically informative genes, such as FOXP2, as contributors to its aetiology.

    • Dorothy Clyde
  • News and Views |

    A new study discovered thousands of expression quantitative trait loci (eQTLs) in the renal glomerular and tubulointerstitial compartments and integrated these data with other omics data sets to identify genes with roles in the pathogenesis of chronic kidney disease. This report reinforces the necessity of using compartment-derived eQTLs to advance kidney genomic discovery.

    • Matthew G. Sampson
  • Correspondence |

    • Weiyin Zhou
    • , Mitchell J. Machiela
    • , Neal D. Freedman
    • , Nathaniel Rothman
    • , Nuria Malats
    • , Casey Dagnall
    • , Neil Caporaso
    • , Lauren T. Teras
    • , Mia M. Gaudet
    • , Susan M. Gapstur
    • , Victoria L. Stevens
    • , Kevin B. Jacobs
    • , Joshua Sampson
    • , Demetrius Albanes
    • , Stephanie Weinstein
    • , Jarmo Virtamo
    • , Sonja Berndt
    • , Robert N. Hoover
    • , Amanda Black
    • , Debra Silverman
    • , Jonine Figueroa
    • , Montserrat Garcia-Closas
    • , Francisco X. Real
    • , Julie Earl
    • , Gaelle Marenne
    • , Benjamin Rodriguez-Santiago
    • , Margaret Karagas
    • , Alison Johnson
    • , Molly Schwenn
    • , Xifeng Wu
    • , Jian Gu
    • , Yuanqing Ye
    • , Amy Hutchinson
    • , Margaret Tucker
    • , Luis A. Perez-Jurado
    • , Michael Dean
    • , Meredith Yeager
    •  & Stephen J. Chanock
    Nature Genetics 51, 7-9