Authors
Timothy RDJ Radstake, Olga Gorlova, Blanca Rueda, Jose-Ezequiel Martin, Behrooz Z Alizadeh, Rogelio Palomino-Morales, Marieke J Coenen, Madelon C Vonk, Alexandre E Voskuyl, Annemie J Schuerwegh, Jasper C Broen, Piet LCM Van Riel, Ruben van't Slot, Annet Italiaander, Roel A Ophoff, Gabriela Riemekasten, Nico Hunzelmann, Carmen P Simeon, Norberto Ortego-Centeno, Miguel A González-Gay, María F González-Escribano, Spanish Scleroderma Group, Paolo Airo, Jaap van Laar, Ariane Herrick, Jane Worthington, Roger Hesselstrand, Vanessa Smith, Filip de Keyser, Fredric Houssiau, Meng May Chee, Rajan Madhok, Paul Shiels, Rene Westhovens, Alexander Kreuter, Hans Kiener, Elfride de Baere, Torsten Witte, Leonid Padykov, Lars Klareskog, Lorenzo Beretta, Rafaella Scorza, Benedicte A Lie, Anna-Maria Hoffmann-Vold, Patricia Carreira, John Varga, Monique Hinchcliff, Peter K Gregersen, Annette T Lee, Jun Ying, Younghun Han, Shih-Feng Weng, Christopher I Amos, Fredrick M Wigley, Laura Hummers, J Lee Nelson, Sandeep K Agarwal, Shervin Assassi, Pravitt Gourh, Filemon K Tan, Bobby PC Koeleman, Frank C Arnett, Javier Martin, Maureen D Mayes
Publication date
2010/5
Journal
Nature genetics
Volume
42
Issue
5
Pages
426-429
Publisher
Nature Publishing Group US
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.
Total citations
Scholar articles
TRDJ Radstake, O Gorlova, B Rueda, JE Martin… - Nature genetics, 2010
TRDJ Radstake, O Gorlova, B Rueda, JE Martin… - Nature genetics, 2011