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

Lookup NU author(s): Professor Jaap Van Laar


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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.

Publication metadata

Author(s): Radstake T, Gorlova O, Rueda B, Martin J, Alizadeh B, Palomino-Morales R, Coenen M, Vonk M, Voskuyl A, Schuerwegh A, Broen J, Van Riel P, Van 'T Slot R, Italiaander A, Ophoff R, Riemekasten G, Hunzelmann N, Simeon C, Ortego-Centeno N, González-Gay M, González-Escribano M, Airo P, Van Laar J, Herrick A, Worthington J, Hesselstrand R, Smith V, De Keyser F, Houssiau F, Chee M, Madhok R, Shiels P, Westhovens R, Kreuter A, Kiener H, De Baere E, Witte T, Padykov L, Klareskog L, Beretta L, Scorza R, Lie B, Hoffmann-Vold A, Carreira P, Varga J, Hinchcliff M, Gregersen P, Lee A, Ying J, Han Y, Weng S, Amos C, Wigley F, Hummers L, Nelson J, Agarwal S, Assassi S, Gourh P, Tan F, Koeleman B, Arnett F, Martin J, Mayes M

Publication type: Article

Publication status: Published

Journal: Nature Genetics

Year: 2010

Volume: 42

Issue: 5

Pages: 426-429

Print publication date: 11/04/2010

ISSN (print): 1061-4036

ISSN (electronic): 1546-1718

Publisher: Nature Publishing Group


DOI: 10.1038/ng.565

PubMed id: 20383147


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Funder referenceFunder name
German Research Foundation
Spanish Society of Rheumatology
Dutch Arthritis Foundation (National Reumafonds)
Dutch Association of Research (NWO)
NIH-NIAMS SSc Family Registry
SSc Foundation
Two-Stage Genome Wide Association Study in Systemic Sclerosis
US National Institutes of Health
016.096.121Netherlands Organization for Health Research and Development
3UL1RR024148University of Texas Health Science Center-Houston Center for Clinical and Translational Sciences
2008.40.001Dutch Diabetes Research Foundation
CTS-4977Junta de Andaluc a, Spain
K08AR054404NIH-NIAMS K08
NR 09-1-408Dutch Arthritis Foundation
N01-AR-0-2251DNA Repository
R01 AR055258,National Institute of Arthritis and Musculoskeletal Diseases (NIH-NIAMS)
R01 MH078075US National Insitutes of Mental Health
SAF2009-11110Spanish Ministry of Science
RD08/0075Instituto de Salud Carlos III (ISCIII)
SSc (P50AR054144)NIH-NIAMS Center of Research Translation (CORT)