Identification of Novel Genetic Markers Associated with Clinical Phenotypes of Systemic Sclerosis through a Genome-Wide Association Strategy

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Fältnamn	Indikatorer	Metadata
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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Av författaren/redakt...: Gorlova, Olga; Martin, Jose-Eze ...; Rueda, Blanca; Koeleman, Bobby ...; Ying, Jun; Teruel, Maria; visa fler...; Diaz-Gallo, Lina ...; Broen, Jasper C.; Vonk, Madelon C.; Simeon, Carmen P ...; Alizadeh, Behroo ...; Coenen, Marieke ...; Voskuyl, Alexand ...; Schuerwegh, Anne ...; van Riel, Piet L ...; Vanthuyne, Marie; van't Slot, Rube ...; Italiaander, Ann ...; Ophoff, Roel A.; Hunzelmann, Nico ...; Fonollosa, Vicen ...; Ortego-Centeno, ...; Gonzalez-Gay, Mi ...; Garcia-Hernandez ...; Gonzalez-Escriba ...; Airo, Paolo; van Laar, Jacob; Worthington, Jan ...; Hesselstrand, Ro ...; Smith, Vanessa; de Keyser, Filip; Houssiau, Fredri ...; Chee, Meng May; Madhok, Rajan; Shiels, Paul G.; Westhovens, Rene; Kreuter, Alexand ...; de Baere, Elfrid ...; Witte, Torsten; Padyukov, Leonid; Nordin, Annika; Scorza, Raffaell ...; Lunardi, Claudio; Lie, Benedicte A ...; Hoffmann-Vold, A ...; Palm, Oyvind; Garcia de la Pen ...; Carreira, Patric ...; Varga, John; Hinchcliff, Moni ...; Lee, Annette T.; Gourh, Pravitt; Amos, Christophe ...; Wigley, Frederic ...; Hummers, Laura K ...; Hummers, J.; Nelson, J. Lee; Riemekasten, Gab ...; Herrick, Ariane; Beretta, Lorenzo; Fonseca, Carmen; Denton, Christop ...; Gregersen, Peter ...; Agarwal, Sandeep; Assassi, Shervin; Tan, Filemon K.; Arnett, Frank C.; Radstake, Timoth ...; Mayes, Maureen D ...; Martin, Javier; visa färre...

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