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

2010; Nature Portfolio; Volume: 42; Issue: 5 Linguagem: Inglês

10.1038/ng.565

1546-1718

Timothy R. D. J. Radstake, Olga Y. Gorlova, Blanca Rueda‐Medina, José-Ezequiel Martín, Behrooz Z. Alizadeh, Rogelio Palomino‐Morales, Marieke J. H. Coenen, Madelon C Vonk, Alexandre E. Voskuyl, Annemie J. Schuerwegh, Jasper Broen, Piet L. C. M. van Riel, Ruben van ‘t Slot, Annet Italiaander, Roel A. Ophoff, Gabriela Riemekasten, Nico Hunzelmann, Carmen Pilar Simeón‐Aznar, Norberto Ortego‐Centeno, Miguel Á. González‐Gay, María Francisca González‐Escribano, Paolo Airò, Jacob M. van Laar, Ariane L. Herrick, Jane Worthington, Roger Hesselstrand, Vanessa Smith, Filip De Keyser, F. Houssiau, Meng May Chee, Rajan Madhok, Paul G. Shiels, René Westhovens, Alexander Kreuter, Hans P. Kiener, Elfride De Baere, Torsten Witte, Leonid Padykov, Lars Klareskog, Lorenzo Beretta, Rafaella Scorza, Benedicte A. Lie, Anna‐Maria Hoffmann‐Vold, Patrícia Carreira, John Varga, Monique Hinchcliff, Peter K. Gregersen, Annette T. Lee, Binwu Ying, Younghun Han, Shih‐Feng Weng, Christopher I. Amos, Fredrick M. Wigley, Laura K. Hummers, J. Lee Nelson, Sandeep K. Agarwal, Shervin Assassi, Pravitt Gourh, Filemon K. Tan, Bobby P. C. Koeleman, Frank C. Arnett, Javier Martı́n, Maureen D. Mayes,

Connective Tissue Growth Factor Research

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.