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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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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 × 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.

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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

URL: http://dx.doi.org/10.1038/ng.565

DOI: 10.1038/ng.565

PubMed id: 20383147

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