Tag-SNP analysis of the GFI1-EVI5-RPL5-FAM69 risk locus for multiple sclerosis
Open accessAbstract
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.
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- Authors
- Alcina, A., Fernández, Ó., Gonzalez, J. R., Catalá-Rabasa, A., Fedetz, M., Ndagire, D., Leyva, L., Guerrero, M., Arnal, C., Delgado, C., Lucas, M., Izquierdo, G., & Matesanz, F.
- Affiliations
- Consejo Superior de Investigaciones Científicas (ES)
- Hospital Universitario Virgen de las Nieves (ES)
- Hospital Universitario Virgen Macarena (ES)
- Corresponding author
- Matesanz, Fuencisla
- Venue
- European Journal of Human Genetics
- Published
- 2010-01-20
- Volume
- 18
- Issue
- 7
- Pages
- 827-831
- ISSN
- 1018-4813 (ISSN-L)
- 1476-5438
- PMC
- PMC2987353
- OpenAlex
- W2122380662
- Cited by
- 27
- References
- 23
- Citations by year
- 2025: 2 · 2024: 1 · 2023: 1 · 2022: 1 · 2020: 2 · 2019: 1 · 2017: 3 · 2016: 1 · 2015: 2 · 2014: 1 · 2013: 4 · 2012: 2
- FWCI
- 2.60
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- www.springer.com/tdm (tdm)
- Locations
- European Journal of Human Genetics (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- HAL (submittedVersion, other-oa)
- DIGITAL.CSIC (Spanish National Research Council (CSIC)) (submittedVersion)
- Trinity's Access to Research Output (TARA) (Trinity College Dublin) (submittedVersion)
- Topics
- Health Sciences › Medicine › Pathology and Forensic Medicine › Multiple Sclerosis Research Studies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Mapping and Diversity in Plants and Animals
- Keywords
- multiple sclerosis, EVI5, tag SNPs, fine mapping, genetic susceptibility, linkage disequilibrium, Spanish population
- MeSH terms
- Adult, DNA-Binding Proteins, Female, Humans, Male, Multiple Sclerosis, Nuclear Proteins, Regression Analysis, Ribosomal Proteins, Risk Factors, Transcription Factors, Linkage Disequilibrium, Case-Control Studies, Cell Cycle Proteins, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, GTPase-Activating Proteins, Genome-Wide Association Study, Genetic Loci
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