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http://hdl.handle.net/10261/79333
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dc.contributor.author | Cavanillas, M. L. | - |
dc.contributor.author | Fernández, Óscar | - |
dc.contributor.author | Comabella, Manuel | - |
dc.contributor.author | Alcina, Antonio | - |
dc.contributor.author | Fedetz, María | - |
dc.contributor.author | Izquierdo, Guillermo | - |
dc.contributor.author | Lucas, Miguel | - |
dc.contributor.author | Cénit, M. Carmen | - |
dc.contributor.author | Arroyo, R. | - |
dc.contributor.author | Vandenbroeck, Koen | - |
dc.contributor.author | Alloza, I. | - |
dc.contributor.author | García-Barcina, María | - |
dc.contributor.author | Antigüedad, A. | - |
dc.contributor.author | Leyva, Laura | - |
dc.contributor.author | Gómez, C. L. | - |
dc.contributor.author | Olascoaga, J. | - |
dc.contributor.author | Otaegui, David | - |
dc.contributor.author | Blanco, Yolanda | - |
dc.contributor.author | Sáiz, Albert | - |
dc.contributor.author | Montalbán, Xavier | - |
dc.contributor.author | Matesanz, F. | - |
dc.contributor.author | Urcelay, Elena | - |
dc.date.accessioned | 2013-07-10T10:08:04Z | - |
dc.date.available | 2013-07-10T10:08:04Z | - |
dc.date.issued | 2011 | - |
dc.identifier | doi: 10.1038/gene.2010.52 | - |
dc.identifier | issn: 1466-4879 | - |
dc.identifier.citation | Genes and Immunity 12: 110- 115 (2011) | - |
dc.identifier.uri | http://hdl.handle.net/10261/79333 | - |
dc.description.abstract | Multiple sclerosis (MS) is a chronic inflammatory disease of the central nervous system with presumed autoimmune origin, triggered by genetic and environmental risk factors. A recent genome-wide association study conducted on MS identified new biallelic markers outside the HLA (human leucocyte antigen) region involved in disease susceptibility: rs1109670 (DDEF2); rs1458175 (PDZRN4); rs1529316 and rs2049306 (CSMD1); rs16914086 (TBC1D2); rs1755289 (SH3GL2); rs1841770 (ZIC1); rs651477 (EN1); rs7607490 (TRIB2); rs397020 (C20orf46); rs908821 (SLC25A36); rs7672826 (MGC45800) and rs9523762 (GPC5). We aimed at replicating these top association signals in a Spanish cohort of 2863 MS patients and 2930 sex- and age-matched controls. Only rs9523762 mapping in the GPC5 gene was significantly associated (G allele, P=1.6 × 10 5; odds ratio (95% confidence interval)=1.23 (1.12-1.36)), supporting a role for this proteoglycan in MS predisposition. The independent replication of association signals to validate data generated by genome-wide association scans is a first step in the effort to improve patient care. © 2011 Macmillan Publishers Limited All rights reserved. | - |
dc.language.iso | eng | - |
dc.publisher | Nature Publishing Group | - |
dc.rights | closedAccess | - |
dc.title | Replication of top markers of a genome-wide association study in multiple sclerosis in Spain | - |
dc.type | artículo | - |
dc.identifier.doi | 10.1038/gene.2010.52 | - |
dc.date.updated | 2013-07-10T10:08:04Z | - |
dc.description.version | Peer Reviewed | - |
dc.type.coar | http://purl.org/coar/resource_type/c_6501 | es_ES |
item.languageiso639-1 | en | - |
item.fulltext | No Fulltext | - |
item.openairecristype | http://purl.org/coar/resource_type/c_18cf | - |
item.cerifentitytype | Publications | - |
item.grantfulltext | none | - |
item.openairetype | artículo | - |
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