Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus

Timothy R.D.J. 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 L.C.M. Van Riel, Ruben Van 'T Slot, Annet Italiaander, Roel A. Ophoff, Gabriela Riemekasten, Nico Hunzelmann, Carmen P. Simeon, Norberto Ortego-Centeno, Miguel A. González-GayMaría F. González-Escribano, 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 P.C. Koeleman, Frank C. Arnett, Javier Martin, Maureen D. Mayes

284 Citations (Scopus)


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.

Original languageEnglish
JournalNature Genetics
Issue number5
Pages (from-to)426-429
Number of pages4
Publication statusPublished - 05.2010

Research Areas and Centers

  • Academic Focus: Center for Infection and Inflammation Research (ZIEL)


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