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

  • Research | | open

    Exome-sequencing analyses of a large cohort of patients with type 2 diabetes and control individuals without diabetes from five ancestries are used to identify gene-level associations of rare variants that are associated with type 2 diabetes.

    • Jason Flannick
    • , Josep M. Mercader
    • , Christian Fuchsberger
    • , Miriam S. Udler
    • , Anubha Mahajan
    • , Jennifer Wessel
    • , Tanya M. Teslovich
    • , Lizz Caulkins
    • , Ryan Koesterer
    • , Francisco Barajas-Olmos
    • , Thomas W. Blackwell
    • , Eric Boerwinkle
    • , Jennifer A. Brody
    • , Federico Centeno-Cruz
    • , Ling Chen
    • , Siying Chen
    • , Cecilia Contreras-Cubas
    • , Emilio Córdova
    • , Adolfo Correa
    • , Maria Cortes
    • , Ralph A. DeFronzo
    • , Lawrence Dolan
    • , Kimberly L. Drews
    • , Amanda Elliott
    • , James S. Floyd
    • , Stacey Gabriel
    • , Maria Eugenia Garay-Sevilla
    • , Humberto García-Ortiz
    • , Myron Gross
    • , Sohee Han
    • , Nancy L. Heard-Costa
    • , Anne U. Jackson
    • , Marit E. Jørgensen
    • , Hyun Min Kang
    • , Megan Kelsey
    • , Bong-Jo Kim
    • , Heikki A. Koistinen
    • , Johanna Kuusisto
    • , Joseph B. Leader
    • , Allan Linneberg
    • , Ching-Ti Liu
    • , Jianjun Liu
    • , Valeriya Lyssenko
    • , Alisa K. Manning
    • , Anthony Marcketta
    • , Juan Manuel Malacara-Hernandez
    • , Angélica Martínez-Hernández
    • , Karen Matsuo
    • , Elizabeth Mayer-Davis
    • , Elvia Mendoza-Caamal
    • , Karen L. Mohlke
    • , Alanna C. Morrison
    • , Anne Ndungu
    • , Maggie C. Y. Ng
    • , Colm O’Dushlaine
    • , Anthony J. Payne
    • , Catherine Pihoker
    • , Wendy S. Post
    • , Michael Preuss
    • , Bruce M. Psaty
    • , Ramachandran S. Vasan
    • , N. William Rayner
    • , Alexander P. Reiner
    • , Cristina Revilla-Monsalve
    • , Neil R. Robertson
    • , Nicola Santoro
    • , Claudia Schurmann
    • , Wing Yee So
    • , Xavier Soberón
    • , Heather M. Stringham
    • , Tim M. Strom
    • , Claudia H. T. Tam
    • , Farook Thameem
    • , Brian Tomlinson
    • , Jason M. Torres
    • , Russell P. Tracy
    • , Rob M. van Dam
    • , Marijana Vujkovic
    • , Shuai Wang
    • , Ryan P. Welch
    • , Daniel R. Witte
    • , Tien-Yin Wong
    • , Gil Atzmon
    • , Nir Barzilai
    • , John Blangero
    • , Lori L. Bonnycastle
    • , Donald W. Bowden
    • , John C. Chambers
    • , Edmund Chan
    • , Ching-Yu Cheng
    • , Yoon Shin Cho
    • , Francis S. Collins
    • , Paul S. de Vries
    • , Ravindranath Duggirala
    • , Benjamin Glaser
    • , Clicerio Gonzalez
    • , Ma Elena Gonzalez
    • , Leif Groop
    • , Jaspal Singh Kooner
    • , Soo Heon Kwak
    • , Markku Laakso
    • , Donna M. Lehman
    • , Peter Nilsson
    • , Timothy D. Spector
    • , E. Shyong Tai
    • , Tiinamaija Tuomi
    • , Jaakko Tuomilehto
    • , James G. Wilson
    • , Carlos A. Aguilar-Salinas
    • , Erwin Bottinger
    • , Brian Burke
    • , David J. Carey
    • , Juliana C. N. Chan
    • , Josée Dupuis
    • , Philippe Frossard
    • , Susan R. Heckbert
    • , Mi Yeong Hwang
    • , Young Jin Kim
    • , H. Lester Kirchner
    • , Jong-Young Lee
    • , Juyoung Lee
    • , Ruth J. F. Loos
    • , Ronald C. W. Ma
    • , Andrew D. Morris
    • , Christopher J. O’Donnell
    • , Colin N. A. Palmer
    • , James Pankow
    • , Kyong Soo Park
    • , Asif Rasheed
    • , Danish Saleheen
    • , Xueling Sim
    • , Kerrin S. Small
    • , Yik Ying Teo
    • , Christopher Haiman
    • , Craig L. Hanis
    • , Brian E. Henderson
    • , Lorena Orozco
    • , Teresa Tusié-Luna
    • , Frederick E. Dewey
    • , Aris Baras
    • , Christian Gieger
    • , Thomas Meitinger
    • , Konstantin Strauch
    • , Leslie Lange
    • , Niels Grarup
    • , Torben Hansen
    • , Oluf Pedersen
    • , Philip Zeitler
    • , Dana Dabelea
    • , Goncalo Abecasis
    • , Graeme I. Bell
    • , Nancy J. Cox
    • , Mark Seielstad
    • , Rob Sladek
    • , James B. Meigs
    • , Steve S. Rich
    • , Jerome I. Rotter
    • , David Altshuler
    • , Noël P. Burtt
    • , Laura J. Scott
    • , Andrew P. Morris
    • , Jose C. Florez
    • , Mark I. McCarthy
    •  & Michael Boehnke
    Nature, 1-8
  • Research | | open

    Genome-wide association studies (GWAS) have so far uncovered more than 200 loci for multiple sclerosis (MS). Here, the authors integrate data from various sources for a cell type-specific pathway analysis of MS GWAS results that specifically highlights the involvement of the immune system in disease pathogenesis.

    • Lohith Madireddy
    • , Niklaos A. Patsopoulos
    • , Chris Cotsapas
    • , Steffan D. Bos
    • , Ashley Beecham
    • , Jacob McCauley
    • , Kicheol Kim
    • , Xiaoming Jia
    • , Adam Santaniello
    • , Stacy J. Caillier
    • , Till F. M. Andlauer
    • , Lisa F. Barcellos
    • , Tone Berge
    • , Luisa Bernardinelli
    • , Filippo Martinelli-Boneschi
    • , David R. Booth
    • , Farren Briggs
    • , Elisabeth G. Celius
    • , Manuel Comabella
    • , Giancarlo Comi
    • , Bruce A. C. Cree
    • , Sandra D’Alfonso
    • , Katrina Dedham
    • , Pierre Duquette
    • , Dardiotis Efthimios
    • , Federica Esposito
    • , Bertrand Fontaine
    • , Christiane Gasperi
    • , An Goris
    • , Bénédicte Dubois
    • , Pierre-Antoine Gourraud
    • , Georgios Hadjigeorgiou
    • , Jonathan Haines
    • , Clive Hawkins
    • , Bernhard Hemmer
    • , Rogier Hintzen
    • , Dana Horakova
    • , Noriko Isobe
    • , Seema Kalra
    • , Jun-ichi Kira
    • , Michael Khalil
    • , Ingrid Kockum
    • , Christina M. Lill
    • , Matthew R. Lincoln
    • , Felix Luessi
    • , Roland Martin
    • , Annette Oturai
    • , Aarno Palotie
    • , Margaret A. Pericak-Vance
    • , Roland Henry
    • , Janna Saarela
    • , Adrian Ivinson
    • , Tomas Olsson
    • , Bruce V. Taylor
    • , Graeme J. Stewart
    • , Hanne F. Harbo
    • , Alastair Compston
    • , Stephen L. Hauser
    • , David A. Hafler
    • , Frauke Zipp
    • , Philip De Jager
    • , Stephen Sawcer
    • , Jorge R. Oksenberg
    •  & Sergio E. Baranzini

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