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European Journal of Human Genetics
Article . 2010 . Peer-reviewed
License: Springer TDM
Data sources: Crossref
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Tag-SNP analysis of the GFI1-EVI5-RPL5-FAM69 risk locus for multiple sclerosis

Authors: Alcina, Antonio; Fernández, Óscar; González, Juan Ramón; Catalá-Rabasa, Antonio; Fedetz, María; Ndagire, D.; Leyva, Laura; +6 Authors

Tag-SNP analysis of the GFI1-EVI5-RPL5-FAM69 risk locus for multiple sclerosis

Abstract

A recent genome-wide association study conducted by the International Multiple Sclerosis Genetic Consortium (IMSGC) identified, among others, a number of putative multiple sclerosis (MS) susceptibility variants at position 1p22. Twenty-one SNPs positively associated with MS were located at the GFI-EVI5-RPL5-FAM69A locus. In this study, we performed an analysis and fine mapping of this locus, genotyping eight Tag-SNPs in 732 MS patients and 974 controls from Spain. We observed an association with MS in three of eight Tag-SNPs: rs11804321 (P=0.008, OR=1.29; 95% CI=1.08-1.54), rs11808092 (P=0.048, OR=1.19; 95% CI=1.03-1.39) and rs6680578 (P=0.0082, OR=1.23; 95% CI=1.07-1.41). After correcting for multiple comparisons and using logistic regression analysis to test the addition of each SNP to the most associated SNPs, we observed that rs11804321 alone was sufficient to model the association. This Tag-SNP captures two SNPs in complete linkage disequilibrium (r(2)=1), both located within the 17th intron of the EVI5 gene. Our findings agree with the corresponding data of the recent IMSGC study and present new genetic evidence that points to EVI5 as a factor of susceptibility to MS.

Keywords

Adult, Male, Ribosomal Proteins, Multiple Sclerosis, GTPase-Activating Proteins, Nuclear Proteins, Cell Cycle Proteins, Polymorphism, Single Nucleotide, Linkage Disequilibrium, DNA-Binding Proteins, Genetic Loci, Risk Factors, Case-Control Studies, Humans, Regression Analysis, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Transcription Factors

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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.
BIP!Popularity provided by BIP!
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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