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

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Fältnamn	Indikatorer	Metadata
000		05225naa a2201081 4500
001		oai:lup.lub.lu.se:e6928beb-174b-4a24-bd44-ab03a8c940ce
003		SwePub
008		160401s2010 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
009		oai:prod.swepub.kib.ki.se:120375074
024	7	a https://lup.lub.lu.se/record/16191242 URI
024	7	a https://doi.org/10.1038/ng.5652 DOI
024	7	a http://kipublications.ki.se/Default.aspx?queryparsed=id:1203750742 URI
040		a (SwePub)lud (SwePub)ki
041		a engb eng
042		9 SwePub
072	7	a art2 swepub-publicationtype
072	7	a ref2 swepub-contenttype
100	1	a Radstake, Timothy R. D. J.4 aut
245	1 0	a Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus
264		c 2010-04-11
264	1	b Springer Science and Business Media LLC,c 2010
520		a 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.
650	7	a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Reumatologi och inflammation0 (SwePub)302102 hsv//swe
650	7	a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Rheumatology and Autoimmunity0 (SwePub)302102 hsv//eng
700	1	a Gorlova, Olga4 aut
700	1	a Rueda, Blanca4 aut
700	1	a Martin, Jose-Ezequiel4 aut
700	1	a Alizadeh, Behrooz Z.4 aut
700	1	a Palomino-Morales, Rogelio4 aut
700	1	a Coenen, Marieke J.4 aut
700	1	a Vonk, Madelon C.4 aut
700	1	a Voskuyl, Alexandre E.4 aut
700	1	a Schuerwegh, Annemie J.4 aut
700	1	a Broen, Jasper C.4 aut
700	1	a van Riel, Piet L. C. M.4 aut
700	1	a van't Slot, Ruben4 aut
700	1	a Italiaander, Annet4 aut
700	1	a Ophoff, Roel A.4 aut
700	1	a Riemekasten, Gabriela4 aut
700	1	a Hunzelmann, Nico4 aut
700	1	a Simeon, Carmen P.4 aut
700	1	a Ortego-Centeno, Norberto4 aut
700	1	a Gonzalez-Gay, Miguel A.4 aut
700	1	a Gonzalez-Escribano, Maria F.4 aut
700	1	a Airo, Paolo4 aut
700	1	a van Laar, Jaap4 aut
700	1	a Herrick, Ariane4 aut
700	1	a Worthington, Jane4 aut
700	1	a Hesselstrand, Rogeru Lund 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 Medicine4 aut0 (Swepub:lu)reum-rhe
700	1	a Smith, Vanessa4 aut
700	1	a de Keyser, Filip4 aut
700	1	a Houssiau, Fredric4 aut
700	1	a Chee, Meng May4 aut
700	1	a Madhok, Rajan4 aut
700	1	a Shiels, Paul4 aut
700	1	a Westhovens, Rene4 aut
700	1	a Kreuter, Alexander4 aut
700	1	a Kiener, Hans4 aut
700	1	a de Baere, Elfride4 aut
700	1	a Witte, Torsten4 aut
700	1	a Padykov, Leonidu Karolinska Institutet4 aut
700	1	a Klareskog, Larsu Karolinska Institutet4 aut
700	1	a Beretta, Lorenzo4 aut
700	1	a Scorza, Rafaella4 aut
700	1	a Lie, Benedicte A.4 aut
700	1	a Hoffmann-Vold, Anna-Maria4 aut
700	1	a Carreira, Patricia4 aut
700	1	a Varga, John4 aut
700	1	a Hinchcliff, Monique4 aut
700	1	a Gregersen, Peter K.4 aut
700	1	a Lee, Annette T.4 aut
700	1	a Ying, Jun4 aut
700	1	a Han, Younghun4 aut
700	1	a Weng, Shih-Feng4 aut
700	1	a Amos, Christopher I.4 aut
700	1	a Wigley, Fredrick M.4 aut
700	1	a Hummers, Laura4 aut
700	1	a Nelson, J. Lee4 aut
700	1	a Agarwal, Sandeep K.4 aut
700	1	a Assassi, Shervin4 aut
700	1	a Gourh, Pravitt4 aut
700	1	a Tan, Filemon K.4 aut
700	1	a Koeleman, Bobby P. C.4 aut
700	1	a Arnett, Frank C.4 aut
700	1	a Martin, Javier4 aut
700	1	a Mayes, Maureen D.4 aut
710	2	a Reumatologi och molekylär skelettbiologib Sektion III4 org
773	0	t Nature Geneticsd : Springer Science and Business Media LLCg 42:5, s. 71-426q 42:5<71-426x 1546-1718x 1061-4036
856	4	u http://dx.doi.org/10.1038/ng.565y FULLTEXT
856	4	u https://europepmc.org/articles/pmc2861917?pdf=render
856	4 8	u https://lup.lub.lu.se/record/1619124
856	4 8	u https://doi.org/10.1038/ng.565
856	4 8	u http://kipublications.ki.se/Default.aspx?queryparsed=id:120375074

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Av författaren/redakt...: Radstake, Timoth ...; Gorlova, Olga; Rueda, Blanca; Martin, Jose-Eze ...; Alizadeh, Behroo ...; Palomino-Morales ...; visa fler...; 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 ...; visa färre...

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