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Cited by 401

The DOI matches its Crossref record; 3 of the 3 references it cites were found in a registry or an index.

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

Open access
Spanish Scleroderma Group, Radstake, Timothy R D J, Gorlova, Olga, Rueda, Blanca, Martin, Jose-Ezequiel, Alizadeh, Behrooz Z, Palomino-Morales, Rogelio, Coenen, Marieke J, Vonk, Madelon C, Voskuyl, Alexandre E, Schuerwegh, Annemie J, Broen, Jasper C, van Riel, Piet L C M, van 't Slot, Ruben, Italiaander, Annet, Ophoff, Roel A, Riemekasten, Gabriela, Hunzelmann, Nico, Simeon, Carmen P, Ortego-Centeno, Norberto, González-Gay, Miguel A, González-Escribano, María F, Airo, Paolo, van Laar, Jaap, Herrick, Ariane, Worthington, Jane, Hesselstrand, Roger, Smith, Vanessa, de Keyser, Filip, Houssiau, Fredric, Chee, Meng May, Madhok, Rajan, Shiels, Paul, Westhovens, Rene, Kreuter, Alexander, Kiener, Hans, de Baere, Elfride, Witte, Torsten, Padykov, Leonid, Klareskog, Lars, Beretta, Lorenzo, Scorza, Rafaella, Lie, Benedicte A, Hoffmann-Vold, Anna-Maria, Carreira, Patricia, Varga, John, Hinchcliff, Monique, Gregersen, Peter K, Lee, Annette T, Ying, Jun, Han, Younghun, Weng, Shih-Feng, Amos, Christopher I, Wigley, Fredrick M, Hummers, Laura, Nelson, J Lee, Agarwal, Sandeep K, Assassi, Shervin, Gourh, Pravitt, Tan, Filemon K, Koeleman, Bobby P C, Arnett, Frank C, Martin, Javier, Mayes, Maureen D·2010·Nature Genetics
DOI 10.1038/ng.565
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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.

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Research works printed but not linked: 20

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Metadata

Authors
Spanish Scleroderma Group, Radstake, T. R. D. J., Gorlova, O., Rueda, B., Martin, J.-E., Alizadeh, B. Z., Palomino-Morales, R., Coenen, M. J., Vonk, M. C., Voskuyl, A. E., Schuerwegh, A. J., Broen, J. C., van Riel, P. L. C. M., van 't Slot, R., Italiaander, A., Ophoff, R. A., Riemekasten, G., Hunzelmann, N., Simeon, C. P., Ortego-Centeno, N., González-Gay, M. A., González-Escribano, M. F., Airo, P., van Laar, J., Herrick, A., Worthington, J., Hesselstrand, R., Smith, V., de Keyser, F., Houssiau, F., Chee, M. 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. A., Hoffmann-Vold, A.-M., Carreira, P., Varga, J., Hinchcliff, M., Gregersen, P. K., Lee, A. T., Ying, J., Han, Y., Weng, S.-F., Amos, C. I., Wigley, F. M., Hummers, L., Nelson, J. L., Agarwal, S. K., Assassi, S., Gourh, P., Tan, F. K., Koeleman, B. P. C., Arnett, F. C., Martin, J., & Mayes, M. D.
Venue
Nature Genetics
Publisher
Springer Science and Business Media LLC
Published
2010-04-11
Volume
42
Issue
5
Pages
426-429
ISSN
  • 1061-4036 (ISSN-L)
  • 1546-1718
DOI
10.1038/ng.565
OpenAlex
W2116107710
Cited by
401
References
3
FWCI
25.58
Type
journal article
Language
en
Update notices
erratum (2011-04-27)
Open access
green
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CoChat. (2026). Citation check: Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus. https://app.cochat.ai/papers/10.1038/ng.565
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Spanish Scleroderma Group, Radstake, T. R. D. J., Gorlova, O., Rueda, B., Martin, J.-E., Alizadeh, B. Z., Palomino-Morales, R., Coenen, M. J., Vonk, M. C., Voskuyl, A. E., Schuerwegh, A. J., Broen, J. C., van Riel, P. L. C. M., van 't Slot, R., Italiaander, A., Ophoff, R. A., Riemekasten, G., Hunzelmann, N., Simeon, C. P., . . . Mayes, M. D. (2010). Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus. Nature Genetics. https://doi.org/10.1038/ng.565

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