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

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Radstake, Timothy R. D. J. (author)

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

Article/chapterEnglish2010

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2010-04-11
Springer Science and Business Media LLC,2010

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LIBRIS-ID:oai:lup.lub.lu.se:e6928beb-174b-4a24-bd44-ab03a8c940ce
https://lup.lub.lu.se/record/1619124URI
https://doi.org/10.1038/ng.565DOI
http://kipublications.ki.se/Default.aspx?queryparsed=id:120375074URI

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Language:English
Summary in:English

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SwePubSwePub

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Subject category:art swepub-publicationtype
Subject category:ref swepub-contenttype

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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.

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Gorlova, Olga (author)
Rueda, Blanca (author)
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)
Hesselstrand, RogerLund University,Lunds universitet,Reumatologi och molekylär skelettbiologi,Sektion III,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Rheumatology,Section III,Department of Clinical Sciences, Lund,Faculty of Medicine(Swepub:lu)reum-rhe (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)
Padykov, LeonidKarolinska Institutet (author)
Klareskog, LarsKarolinska Institutet (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)
Reumatologi och molekylär skelettbiologiSektion III (creator_code:org_t)

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In:Nature Genetics: Springer Science and Business Media LLC42:5, s. 71-4261546-17181061-4036

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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 ...; show less...

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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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