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Genes and Immunity
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Genes and Immunity
Article . 2010 . Peer-reviewed
License: Springer TDM
Data sources: Crossref
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Replication of top markers of a genome-wide association study in multiple sclerosis in Spain

Authors: Cavanillas, M. L.; Fernández, Óscar; Comabella, M.; Alcina, Antonio; Fedetz, María; Izquierdo, Guillermo; Lucas, Miguel; +15 Authors

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

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.

Keywords

Adult, DNA Replication, Genetic Markers, Male, Multiple Sclerosis, Cohort Studies, Gene Frequency, HLA Antigens, Spain, Case-Control Studies, Humans, Female, Genetic Predisposition to Disease, Alleles, Genome-Wide Association Study

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This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
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popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
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influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
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impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
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