English   español  
Please use this identifier to cite or link to this item: http://hdl.handle.net/10261/61887
Share/Impact:
Statistics
logo share SHARE logo core CORE   Add this article to your Mendeley library MendeleyBASE

Visualizar otros formatos: MARC | Dublin Core | RDF | ORE | MODS | METS | DIDL
Exportar a otros formatos:

Title

Identification of CSK as a systemic sclerosis genetic risk factor through genome wide association study follow-up

AuthorsMartín, J. E.; Broen, Jasper C.; David Carmona, F.; Teruel, María; Simeón, Carmen P.; Vonk, Madelon C.; Slot, R. V.; Rodríguez-Rodríguez, Luis; Vicente, Esther; Fonollosa, V.; Ortego-Centeno, N.; González-Gay, M. A.; García-Hernández, F. J.; García de la Peña, P.; Carreira, P.; Voskuyl, Alexandre E.; Schuerwegh, A. J.; Riel, Piet L.C.M. van; Kreuter, A.; Witte, Torsten; Riemekasten, G.; Airó, Paolo; Scorza, R.; Lunardi, C.; Hunzelmann, Nicolas; Distler, J. H.; Beretta, L.; Laar, Jacob M. van; Chee, M. M.; Worthington, J.; Herrick, A.; Denton, C.; Tan, F. K.; Arnett, F. C.; Assassi, S.; Fonseca, C.; Mayes, M. D.; Radstake, T. R.; Koeleman, B. P.; Martín, J.
Issue Date2012
PublisherOxford University Press
CitationHuman Molecular Genetics 21: 2825- 2835 (2012)
AbstractSystemic sclerosis (SSc) is complex autoimmune disease affecting the connective tissue; influenced by genetic and environmental components. Recently, we performed the first successful genome-wide association study (GWAS) of SSc. Here, we perform a large replication study to better dissect the genetic component of SSc. We selected 768 polymorphisms from the previous GWAS and genotyped them in seven replication cohorts from Europe. Overall significance was calculated for replicated significant SNPs by meta-analysis of the replication cohorts and replication-GWAS cohorts (3237 cases and 6097 controls). Six SNPs in regions not previously associated with SSc were selected for validation in another five independent cohorts, up to a total of 5270 SSc patients and 8326 controls. We found evidence for replication and overall genome-wide significance for one novel SSc genetic risk locus: CSK [P-value 5 5.04 3 10 -12, odds ratio (OR) 5 1.20]. Additionally, we found suggestive association in the loci PSD3 (P-value 5 3.18 3 10 -7, OR 5 1.36) and NFKB1 (P-value 5 1.03 3 10 -6, OR5 1.14). Additionally, we strengthened the evidence for previously confirmed associations. This study significantly increases the number of known putative genetic risk factors for SSc, including the genes CSK, PSD3 and NFKB1, and further confirms six previously described ones. © The Author 2012. Published by Oxford University Press. All rights reserved.
URIhttp://hdl.handle.net/10261/61887
DOI10.1093/hmg/dds099
Identifiersdoi: 10.1093/hmg/dds099
issn: 0964-6906
Appears in Collections:(IPBLN) Artículos
Files in This Item:
File Description SizeFormat 
accesoRestringido.pdf15,38 kBAdobe PDFThumbnail
View/Open
Show full item record
Review this work
 

Related articles:


WARNING: Items in Digital.CSIC are protected by copyright, with all rights reserved, unless otherwise indicated.