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Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus
- Radstake, Timothy R. D. J. (author)
- Gorlova, Olga (author)
- Rueda, Blanca (author)
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- Martin, Jose-Ezequiel (author)
- Alizadeh, Behrooz Z. (author)
- Palomino-Morales, Rogelio (author)
- Coenen, Marieke J. (author)
- Vonk, Madelon C. (author)
- Voskuyl, Alexandre E. (author)
- Schuerwegh, Annemie J. (author)
- Broen, Jasper C. (author)
- van Riel, Piet L. C. M. (author)
- van't Slot, Ruben (author)
- Italiaander, Annet (author)
- Ophoff, Roel A. (author)
- Riemekasten, Gabriela (author)
- Hunzelmann, Nico (author)
- Simeon, Carmen P. (author)
- Ortego-Centeno, Norberto (author)
- Gonzalez-Gay, Miguel A. (author)
- Gonzalez-Escribano, Maria F. (author)
- Airo, Paolo (author)
- van Laar, Jaap (author)
- Herrick, Ariane (author)
- Worthington, Jane (author)
- Smith, Vanessa (author)
- de Keyser, Filip (author)
- Houssiau, Fredric (author)
- Chee, Meng May (author)
- Madhok, Rajan (author)
- Shiels, Paul (author)
- Westhovens, Rene (author)
- Kreuter, Alexander (author)
- Kiener, Hans (author)
- de Baere, Elfride (author)
- Witte, Torsten (author)
- Beretta, Lorenzo (author)
- Scorza, Rafaella (author)
- Lie, Benedicte A. (author)
- Hoffmann-Vold, Anna-Maria (author)
- Carreira, Patricia (author)
- Varga, John (author)
- Hinchcliff, Monique (author)
- Gregersen, Peter K. (author)
- Lee, Annette T. (author)
- Ying, Jun (author)
- Han, Younghun (author)
- Weng, Shih-Feng (author)
- Amos, Christopher I. (author)
- Wigley, Fredrick M. (author)
- Hummers, Laura (author)
- Nelson, J. Lee (author)
- Agarwal, Sandeep K. (author)
- Assassi, Shervin (author)
- Gourh, Pravitt (author)
- Tan, Filemon K. (author)
- Koeleman, Bobby P. C. (author)
- Arnett, Frank C. (author)
- Martin, Javier (author)
- Mayes, Maureen D. (author)
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- (creator_code:org_t)
- 2010-04-11
- 2010
- English.
- In: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 42:5, s. 71-426
- Journal article (peer-reviewed)
Abstract
Subject headings
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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 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Reumatologi och inflammation (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Rheumatology and Autoimmunity (hsv//eng)
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- art (subject category)
- ref (subject category)
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- By the author/editor
- Radstake, Timoth ...
- Gorlova, Olga
- Rueda, Blanca
- Martin, Jose-Eze ...
- Alizadeh, Behroo ...
- Palomino-Morales ...
- show more...
- Coenen, Marieke ...
- Vonk, Madelon C.
- Voskuyl, Alexand ...
- Schuerwegh, Anne ...
- Broen, Jasper C.
- van Riel, Piet L ...
- van't Slot, Rube ...
- Italiaander, Ann ...
- Ophoff, Roel A.
- Riemekasten, Gab ...
- Hunzelmann, Nico
- Simeon, Carmen P ...
- Ortego-Centeno, ...
- Gonzalez-Gay, Mi ...
- Gonzalez-Escriba ...
- Airo, Paolo
- van Laar, Jaap
- Herrick, Ariane
- Worthington, Jan ...
- Hesselstrand, Ro ...
- Smith, Vanessa
- de Keyser, Filip
- Houssiau, Fredri ...
- Chee, Meng May
- Madhok, Rajan
- Shiels, Paul
- Westhovens, Rene
- Kreuter, Alexand ...
- Kiener, Hans
- de Baere, Elfrid ...
- Witte, Torsten
- Padykov, Leonid
- Klareskog, Lars
- Beretta, Lorenzo
- Scorza, Rafaella
- Lie, Benedicte A ...
- Hoffmann-Vold, A ...
- Carreira, Patric ...
- Varga, John
- Hinchcliff, Moni ...
- Gregersen, Peter ...
- Lee, Annette T.
- Ying, Jun
- Han, Younghun
- Weng, Shih-Feng
- Amos, Christophe ...
- Wigley, Fredrick ...
- Hummers, Laura
- Nelson, J. Lee
- Agarwal, Sandeep ...
- Assassi, Shervin
- Gourh, Pravitt
- Tan, Filemon K.
- Koeleman, Bobby ...
- Arnett, Frank C.
- Martin, Javier
- Mayes, Maureen D ...
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
- MEDICAL AND HEAL ...
- and Clinical Medicin ...
- and Rheumatology and ...
- Articles in the publication
- Nature Genetics
- By the university
- Lund University
- Karolinska Institutet
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