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Genome-wide association study of multiple sclerosis confirms a novel locus at 5p13.1.
oleh: Fuencisla Matesanz, Antonio González-Pérez, Miguel Lucas, Serena Sanna, Javier Gayán, Elena Urcelay, Ilenia Zara, Maristella Pitzalis, María L Cavanillas, Rafael Arroyo, Magdalena Zoledziewska, Marisa Marrosu, Oscar Fernández, Laura Leyva, Antonio Alcina, Maria Fedetz, Concha Moreno-Rey, Juan Velasco, Luis M Real, Juan Luis Ruiz-Peña, Francesco Cucca, Agustín Ruiz, Guillermo Izquierdo
| Format: | Article |
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| Diterbitkan: | Public Library of Science (PLoS) 2012-01-01 |
Deskripsi
Multiple 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.