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

  • Reviews |

    Global genomic diversity can provide new opportunities for discovery and translation into therapies, as well as a better understanding of population disease risks. This Review considers the value of examining diverse populations to better understand genetic contributors to disease risk and trait variation.

    • Deepti Gurdasani
    • , Inês Barroso
    • , Eleftheria Zeggini
    •  & Manjinder S. Sandhu
  • Research | | open

    Dental caries and periodontitis are among the most common medical conditions. Here, the authors report a GWAS for measures of oral health that reveals 47 risk loci for caries, find genetic correlation with 31 other complex traits and use Mendelian randomization analyses to explore potential causal relationships.

    • Dmitry Shungin
    • , Simon Haworth
    • , Kimon Divaris
    • , Cary S. Agler
    • , Yoichiro Kamatani
    • , Myoung Keun Lee
    • , Kelsey Grinde
    • , George Hindy
    • , Viivi Alaraudanjoki
    • , Paula Pesonen
    • , Alexander Teumer
    • , Birte Holtfreter
    • , Saori Sakaue
    • , Jun Hirata
    • , Yau-Hua Yu
    • , Paul M. Ridker
    • , Franco Giulianini
    • , Daniel I. Chasman
    • , Patrik K. E. Magnusson
    • , Takeaki Sudo
    • , Yukinori Okada
    • , Uwe Völker
    • , Thomas Kocher
    • , Vuokko Anttonen
    • , Marja-Liisa Laitala
    • , Marju Orho-Melander
    • , Tamar Sofer
    • , John R. Shaffer
    • , Alexandre Vieira
    • , Mary L. Marazita
    • , Michiaki Kubo
    • , Yasushi Furuichi
    • , Kari E. North
    • , Steve Offenbacher
    • , Erik Ingelsson
    • , Paul W. Franks
    • , Nicholas J. Timpson
    •  & Ingegerd Johansson
  • Research |

    Genetic analyses of ancestrally diverse populations show evidence of heterogeneity across ancestries and provide insights into clinical implications, highlighting the importance of including ancestrally diverse populations to maximize genetic discovery and reduce health disparities.

    • Genevieve L. Wojcik
    • , Mariaelisa Graff
    • , Katherine K. Nishimura
    • , Ran Tao
    • , Jeffrey Haessler
    • , Christopher R. Gignoux
    • , Heather M. Highland
    • , Yesha M. Patel
    • , Elena P. Sorokin
    • , Christy L. Avery
    • , Gillian M. Belbin
    • , Stephanie A. Bien
    • , Iona Cheng
    • , Sinead Cullina
    • , Chani J. Hodonsky
    • , Yao Hu
    • , Laura M. Huckins
    • , Janina Jeff
    • , Anne E. Justice
    • , Jonathan M. Kocarnik
    • , Unhee Lim
    • , Bridget M. Lin
    • , Yingchang Lu
    • , Sarah C. Nelson
    • , Sung-Shim L. Park
    • , Hannah Poisner
    • , Michael H. Preuss
    • , Melissa A. Richard
    • , Claudia Schurmann
    • , Veronica W. Setiawan
    • , Alexandra Sockell
    • , Karan Vahi
    • , Marie Verbanck
    • , Abhishek Vishnu
    • , Ryan W. Walker
    • , Kristin L. Young
    • , Niha Zubair
    • , Victor Acuña-Alonso
    • , Jose Luis Ambite
    • , Kathleen C. Barnes
    • , Eric Boerwinkle
    • , Erwin P. Bottinger
    • , Carlos D. Bustamante
    • , Christian Caberto
    • , Samuel Canizales-Quinteros
    • , Matthew P. Conomos
    • , Ewa Deelman
    • , Ron Do
    • , Kimberly Doheny
    • , Lindsay Fernández-Rhodes
    • , Myriam Fornage
    • , Benyam Hailu
    • , Gerardo Heiss
    • , Brenna M. Henn
    • , Lucia A. Hindorff
    • , Rebecca D. Jackson
    • , Cecelia A. Laurie
    • , Cathy C. Laurie
    • , Yuqing Li
    • , Dan-Yu Lin
    • , Andres Moreno-Estrada
    • , Girish Nadkarni
    • , Paul J. Norman
    • , Loreall C. Pooler
    • , Alexander P. Reiner
    • , Jane Romm
    • , Chiara Sabatti
    • , Karla Sandoval
    • , Xin Sheng
    • , Eli A. Stahl
    • , Daniel O. Stram
    • , Timothy A. Thornton
    • , Christina L. Wassel
    • , Lynne R. Wilkens
    • , Cheryl A. Winkler
    • , Sachi Yoneyama
    • , Steven Buyske
    • , Christopher A. Haiman
    • , Charles Kooperberg
    • , Loic Le Marchand
    • , Ruth J. F. Loos
    • , Tara C. Matise
    • , Kari E. North
    • , Ulrike Peters
    • , Eimear E. Kenny
    •  & Christopher S. Carlson
    Nature, 1-5
  • Research |

    The study reports a genome-wide significant locus for cannabis use disorder, replicating in an independent cohort, and implicates CHRNA2, which encodes an acetylcholine receptor subunit, in the disorder by analyses of genetically regulated gene expression.

    • Ditte Demontis
    • , Veera Manikandan Rajagopal
    • , Thorgeir E. Thorgeirsson
    • , Thomas D. Als
    • , Jakob Grove
    • , Kalle Leppälä
    • , Daniel F. Gudbjartsson
    • , Jonatan Pallesen
    • , Carsten Hjorthøj
    • , Gunnar W. Reginsson
    • , Thorarinn Tyrfingsson
    • , Valgerdur Runarsdottir
    • , Per Qvist
    • , Jane Hvarregaard Christensen
    • , Jonas Bybjerg-Grauholm
    • , Marie Bækvad-Hansen
    • , Laura M. Huckins
    • , Eli A. Stahl
    • , Allan Timmermann
    • , Esben Agerbo
    • , David M. Hougaard
    • , Thomas Werge
    • , Ole Mors
    • , Preben Bo Mortensen
    • , Merete Nordentoft
    • , Mark J. Daly
    • , Hreinn Stefansson
    • , Kari Stefansson
    • , Mette Nyegaard
    •  & Anders D. Børglum
    Nature Neuroscience 22, 1066-1074

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