Sökning: onr:"swepub:oai:lup.lub.lu.se:7ca5bdbe-0211-43b3-b8d5-a84cb21539c0" > Identification of N...
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000 | 06619naa a2201189 4500 | |
001 | oai:lup.lub.lu.se:7ca5bdbe-0211-43b3-b8d5-a84cb21539c0 | |
003 | SwePub | |
008 | 160401s2011 | |||||||||||000 ||eng| | |
009 | oai:prod.swepub.kib.ki.se:123024009 | |
024 | 7 | a https://lup.lub.lu.se/record/20653412 URI |
024 | 7 | a https://doi.org/10.1371/journal.pgen.10021782 DOI |
024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1230240092 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 Gorlova, Olga4 aut |
245 | 1 0 | a Identification of Novel Genetic Markers Associated with Clinical Phenotypes of Systemic Sclerosis through a Genome-Wide Association Strategy |
264 | c 2011-07-14 | |
264 | 1 | b Public Library of Science (PLoS),c 2011 |
338 | a electronic2 rdacarrier | |
520 | a The aim of this study was to determine, through a genome-wide association study (GWAS), the genetic components contributing to different clinical sub-phenotypes of systemic sclerosis (SSc). We considered limited (IcSSc) and diffuse (dcSSc) cutaneous involvement, and the relationships with presence of the SSc-specific auto-antibodies, anti-centromere (ACA), and anti-topoisomerase I (ATA). Four GWAS cohorts, comprising 2,296 SSc patients and 5,171 healthy controls, were meta-analyzed looking for associations in the selected subgroups. Eighteen polymorphisms were further tested in nine independent cohorts comprising an additional 3,175 SSc patients and 4,971 controls. Conditional analysis for associated SNPs in the HLA region was performed to explore their independent association in antibody subgroups. Overall analysis showed that non-HLA polymorphism rs11642873 in IRF8 gene to be associated at GWAS level with lcSSc (P = 2.32x10(-12), OR = 0.75). Also, rs12540874 in GRB10 gene (P = 1.27 x 10(-6), OR = 1.15) and rs11047102 in SOX5 gene (P = 1.39x10(-7), OR = 1.36) showed a suggestive association with lcSSc and ACA subgroups respectively. In the HLA region, we observed highly associated allelic combinations in the HLA-DQB1 locus with ACA (P = 1.79x10(-61), OR = 2.48), in the HLA-DPA1/B1 loci with ATA (P = 4.57x10(-76), OR = 8.84), and in NOTCH4 with ACA P = 8.84x10(-21), OR = 0.55) and ATA (P = 1.14x10(-8), OR = 0.54). We have identified three new non-HLA genes (IRF8, GRB10, and SOX5) associated with SSc clinical and autoantibody subgroups. Within the HLA region, HLA-DQB1, HLA-DPA1/B1, and NOTCH4 associations with SSc are likely confined to specific auto-antibodies. These data emphasize the differential genetic components of subphenotypes of SSc. | |
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 Martin, Jose-Ezequiel4 aut |
700 | 1 | a Rueda, Blanca4 aut |
700 | 1 | a Koeleman, Bobby P. C.4 aut |
700 | 1 | a Ying, Jun4 aut |
700 | 1 | a Teruel, Maria4 aut |
700 | 1 | a Diaz-Gallo, Lina-Marcela4 aut |
700 | 1 | a Broen, Jasper C.4 aut |
700 | 1 | a Vonk, Madelon C.4 aut |
700 | 1 | a Simeon, Carmen P.4 aut |
700 | 1 | a Alizadeh, Behrooz Z.4 aut |
700 | 1 | a Coenen, Marieke J. H.4 aut |
700 | 1 | a Voskuyl, Alexandre E.4 aut |
700 | 1 | a Schuerwegh, Annemie J.4 aut |
700 | 1 | a van Riel, Piet L. C. M.4 aut |
700 | 1 | a Vanthuyne, Marie4 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 Hunzelmann, Nicolas4 aut |
700 | 1 | a Fonollosa, Vicente4 aut |
700 | 1 | a Ortego-Centeno, Norberto4 aut |
700 | 1 | a Gonzalez-Gay, Miguel A.4 aut |
700 | 1 | a Garcia-Hernandez, Francisco J.4 aut |
700 | 1 | a Gonzalez-Escribano, Maria F.4 aut |
700 | 1 | a Airo, Paolo4 aut |
700 | 1 | a van Laar, Jacob4 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, Paul G.4 aut |
700 | 1 | a Westhovens, Rene4 aut |
700 | 1 | a Kreuter, Alexander4 aut |
700 | 1 | a de Baere, Elfride4 aut |
700 | 1 | a Witte, Torsten4 aut |
700 | 1 | a Padyukov, Leonidu Karolinska Institutet4 aut |
700 | 1 | a Nordin, Annikau Karolinska Institutet4 aut |
700 | 1 | a Scorza, Raffaella4 aut |
700 | 1 | a Lunardi, Claudio4 aut |
700 | 1 | a Lie, Benedicte A.4 aut |
700 | 1 | a Hoffmann-Vold, Anna-Maria4 aut |
700 | 1 | a Palm, Oyvind4 aut |
700 | 1 | a Garcia de la Pena, Paloma4 aut |
700 | 1 | a Carreira, Patricia4 aut |
700 | 1 | a Varga, John4 aut |
700 | 1 | a Hinchcliff, Monique4 aut |
700 | 1 | a Lee, Annette T.4 aut |
700 | 1 | a Gourh, Pravitt4 aut |
700 | 1 | a Amos, Christopher I.4 aut |
700 | 1 | a Wigley, Frederick M.4 aut |
700 | 1 | a Hummers, Laura K.4 aut |
700 | 1 | a Hummers, J.4 aut |
700 | 1 | a Nelson, J. Lee4 aut |
700 | 1 | a Riemekasten, Gabriella4 aut |
700 | 1 | a Herrick, Ariane4 aut |
700 | 1 | a Beretta, Lorenzo4 aut |
700 | 1 | a Fonseca, Carmen4 aut |
700 | 1 | a Denton, Christopher P.4 aut |
700 | 1 | a Gregersen, Peter K.4 aut |
700 | 1 | a Agarwal, Sandeep4 aut |
700 | 1 | a Assassi, Shervin4 aut |
700 | 1 | a Tan, Filemon K.4 aut |
700 | 1 | a Arnett, Frank C.4 aut |
700 | 1 | a Radstake, Timothy R. D. J.4 aut |
700 | 1 | a Mayes, Maureen D.4 aut |
700 | 1 | a Martin, Javier4 aut |
710 | 2 | a Reumatologi och molekylär skelettbiologib Sektion III4 org |
773 | 0 | t PLoS Geneticsd : Public Library of Science (PLoS)g 7:7q 7:7x 1553-7404 |
856 | 4 | u https://portal.research.lu.se/files/1415337/2213047.pdfx primaryx freey FULLTEXT |
856 | 4 | u http://dx.doi.org/10.1371/journal.pgen.1002178x freey FULLTEXT |
856 | 4 | u https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1002178&type=printable |
856 | 4 8 | u https://lup.lub.lu.se/record/2065341 |
856 | 4 8 | u https://doi.org/10.1371/journal.pgen.1002178 |
856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:123024009 |
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