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Genome-wide association study of multiple sclerosis confirms a novel locus at 5p13.1

AuthorsMatesanz, F.; González-Pérez, A.; Lucas, Miguel; Sanna, S.; Gayán, J.; Urcelay, Elena; Zara, I.; Pitzalis, M.; Cavanillas, M. L.; Arroyo, R.; Zoledziewska, M.; Marrosu, M.; Fernández, Óscar; Leyva, Laura; Alcina, Antonio; Fedetz, María; Moreno-Rey, C.; Velasco, Juan; Real, L. M.; Ruiz-Peña, J. L.; Cucca, F.; Ruiz, A.; Izquierdo, Guillermo
Issue Date2012
PublisherPublic Library of Science
CitationPLoS ONE 7 (2012)
AbstractMultiple Sclerosis (MS) is the most common progressive and disabling neurological condition affecting young adults in the world today. From a genetic point of view, MS is a complex disorder resulting from the combination of genetic and non-genetic factors. We aimed to identify previously unidentified loci conducting a new GWAS of Multiple Sclerosis (MS) in a sample of 296 MS cases and 801 controls from the Spanish population. Meta-analysis of our data in combination with previous GWAS was done. A total of 17 GWAS-significant SNPs, corresponding to three different loci were identified:HLA, IL2RA, and 5p13.1. All three have been previously reported as GWAS-significant. We confirmed our observation in 5p13.1 for rs9292777 using two additional independent Spanish samples to make a total of 4912 MS cases and 7498 controls (ORpooled = 0.84; 95%CI: 0.80-0.89; p = 1.36×10-9). This SNP differs from the one reported within this locus in a recent GWAS. Although it is unclear whether both signals are tapping the same genetic association, it seems clear that this locus plays an important role in the pathogenesis of MS. © 2012 Matesanz et al.
Identifiersdoi: 10.1371/journal.pone.0036140
issn: 1932-6203
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