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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus
Nature Genetics, Volume 42, No. 5, Year 2010
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Description
Systemic sclerosis (SSc) is an autoimmune disease characterized by fibrosis of the skin and internal organs that leads to profound disability and premature death. To identify new SSc susceptibility loci, we conducted the first genome-wide association study in a population of European ancestry including a total of 2,296 individuals with SSc and 5,171 controls. Analysis of 279,621 autosomal SNPs followed by replication testing in an independent case-control set of European ancestry (2,753 individuals with SSc (cases) and 4,569 controls) identified a new susceptibility locus for systemic sclerosis at CD247 (1q22-23, rs2056626, P = 2.09 × 10 7 in the discovery samples, P = 3.39 × 10 9 in the combined analysis). Additionally, we confirm and firmly establish the role of the MHC (P = 2.31 × 10 18), IRF5 (P = 1.86 × 10 13) and STAT4 (P = 3.37 × 10 9) gene regions as SSc genetic risk factors. © 2010 Nature America, Inc. All rights reserved.
Authors & Co-Authors
Radstake, Timothy R.D.J.
Netherlands, Nijmegen
Radboud University Medical Center
Alizadeh, Behrooz Z.
Netherlands, Utrecht
University Medical Center Utrecht
Palomino-Morales, Rogelio Jesús
Spain, Madrid
Consejo Superior de Investigaciones Científicas
Coenen, Marieke J.H.
Netherlands, Nijmegen
Radboud University Medical Center
Vonk, Madelon C.
Netherlands, Nijmegen
Radboud University Medical Center
Voskuyl, Alexandre E.
Netherlands, Nijmegen
Radboud University Medical Center
van Riel, Piet L.C.M.
Netherlands, Nijmegen
Radboud University Medical Center
Ophoff, R. A.
Netherlands, Utrecht
University Medical Center Utrecht
United States, Los Angeles
University of California, Los Angeles
Riemekasten, Gabriela
Germany, Berlin
Charité – Universitätsmedizin Berlin
Hunzelmann, Nicolas
Germany, Koln
Universität zu Köln
Ortego-Centeno, Norberto
Spain, Granada
Hospital Universitario San Cecilio
González-Gay, Miguel Ángel
Unknown Affiliation
Gónzalez-Escribano, María Francisca
Spain, Sevilla
Hospital Universitario Virgen Del Rocío
Airo’, Paolo
Italy, Brescia
Università Degli Studi Di Brescia
van Laar, Jacob M.
United Kingdom, Newcastle
Newcastle University
Herrick, Ariane L.
United Kingdom, Manchester
Health Innovation Manchester
Hesselstrand, Roger
Sweden, Lund
Lunds Universitet
Smith, Vanessa
Belgium, Ghent
Universiteit Gent
de Keyser, Filip M.
Belgium, Ghent
Universiteit Gent
Houssiau, Frédéric A.
Belgium, Leuven
Ku Leuven
Madhok, Rajan
United Kingdom, Glasgow
University of Glasgow
Shiels, Paul G.
United Kingdom, Glasgow
University of Glasgow
Westhovens, René
Belgium, Antwerpen
Universiteit Antwerpen
Kreuter, Alexander
Germany, Bochum
Ruhr-universitat Bochum
Kiener, Hans Peter
Austria, Vienna
Universität Wien
de Baere, Elfride B.W.
Belgium, Ghent
Universiteit Gent
Witte, Torsten
Germany, Hannover
Gottfried Wilhelm Leibniz Universität Hannover
Padyukov, Leonid
Sweden, Stockholm
Karolinska Institutet
Klareskog, Lars G.
Sweden, Stockholm
Karolinska Institutet
Beretta, Lorenzo
Italy, Milan
Università Degli Studi Di Milano
Scorza, Raffaella
Italy, Milan
Università Degli Studi Di Milano
Lie, Benedicte Alexandra
Unknown Affiliation
Hoffmann-Vold, Anna Maria
Norway, Oslo
Oslo Universitetssykehus
Carreira-Delgado, Patricia E.
Spain, Madrid
Hospital Universitario 12 de Octubre
Gregersen, Peter K.
Unknown Affiliation
Lee, Annette T.
Unknown Affiliation
Amos, Christopher I.
United States, Houston
The University of Texas Md Anderson Cancer Center
Wigley, Fredrick M.
United States, Baltimore
Johns Hopkins University
Hummers, Laura Kathleen
United States, Baltimore
Johns Hopkins University
Nelson, Judith Lee
United States, Seattle
Fred Hutchinson Cancer Center
Koeleman, Bobby P.C.
Netherlands, Utrecht
University Medical Center Utrecht
Martin, Javier
Spain, Madrid
Consejo Superior de Investigaciones Científicas
Mayes, Maureen Davidica
United States, Houston
University of Texas Health Science Center at Houston
Statistics
Citations: 381
Authors: 43
Affiliations: 30
Identifiers
Doi:
10.1038/ng.565
ISSN:
15461718
Research Areas
Disability
Genetics And Genomics
Maternal And Child Health
Study Design
Cross Sectional Study
Case-Control Study