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Replication of top markers of a genome-wide association study in multiple sclerosis in Spain

AuthorsCavanillas, M. L.; Fernández, Óscar; Comabella, M.; Alcina, Antonio; Fedetz, María; Izquierdo, Guillermo; Lucas, Miguel; Cénit, M. C.; Arroyo, R.; Vandenbroeck, Koen; Alloza, I.; García-Barcina, M.; Antigüedad, A.; Leyva, Laura; Gómez, C. L.; Olascoaga, J.; Otaegui, David; Blanco, Yolanda; Sáiz, Albert; Montalbán, X.; Matesanz, F.; Urcelay, Elena
Issue Date2011
PublisherNature Publishing Group
CitationGenes and Immunity 12: 110- 115 (2011)
AbstractMultiple 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.
Identifiersdoi: 10.1038/gene.2010.52
issn: 1466-4879
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