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Title: Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus
Authors: Radstake, Timothy R D J ×
Gorlova, Olga
Rueda, Blanca
Martin, Jose-Ezequiel
Alizadeh, Behrooz Z
Palomino-Morales, Rogelio
Coenen, Marieke J
Vonk, Madelon C
Voskuyl, Alexandre E
Scheurwegh, Annemie J
Broen, Jasper C
van Riel, Piet L C M
van 't Slot, Ruben
Italiaander, Annet
Ophoff, Roel A
Riemekasten, Gabriela
Hunzelmann, Nico
Simeon, Carmen P
Ortego-Centeno, Norberto
González-Gay, Miguel A
González-Escribano, María F
Airo, Paolo
van Laar, Jaap
Herrick, Ariane
Worthington, Jane
Hesselstrand, Roger
Smith, Vanessa
de Keyser, Filip
Houssiau, Fredric
Chee, Meng May
Madhok, Rajan
Shiels, Paul
Westhovens, Rene
Kreuter, Alexander
Kiener, Hans
de Baere, Elfride
Witte, Torsten
Padykov, Leonid
Klareskog, Lars
Beretta, Lorenzo
Scorza, Rafaella
Lie, Benedicte A
Hoffmann-Vold, Anna-Maria
Carreira, Patricia
Varga, John
Hinchcliff, Monique
Gregersen, Peter K
Lee, Annette T
Ying, Jun
Han, Younghun
Weng, Shih-Feng
Amos, Christopher I
Wigley, Fredrick M
Hummers, Laura
Nelson, J Lee
Agarwal, Sandeep K
Assassi, Shervin
Gourh, Pravitt
Tan, Filemon K
Koeleman, Bobby P C
Arnett, Frank C
Martin, Javier
Mayes, Maureen D #
Issue Date: Apr-2010
Publisher: Nature Publishing Group
Series Title: Nature Genetics vol:42 pages:426-429
Abstract: 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 x 10(-7) in the discovery samples, P = 3.39 x 10(-9) in the combined analysis). Additionally, we confirm and firmly establish the role of the MHC (P = 2.31 x 10(-18)), IRF5 (P = 1.86 x 10(-13)) and STAT4 (P = 3.37 x 10(-9)) gene regions as SSc genetic risk factors.
URI: 
ISSN: 1061-4036
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Rheumatology Section (-)
× corresponding author
# (joint) last author

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