1. Genome-Wide Association Study of Multiple Sclerosis Confirms a Novel Locus at 5p13.1.
- Author
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Matesanz, Fuencisla, Gonzá lez-Pérez, Antonio, Lucas, Miguel, Sanna, Serena, Gayán, Javier, Urcelay, Elena, Zara, Ilenia, Pitzalis, Maristella, Cavanillas, María L., Arroyo, Rafael, Zoledziewska, Magdalena, Marrosu, Marisa, Fernández, Oscar, Leyva, Laura, Alcina, Antonio, Fedetz, Maria, Moreno-Rey, Concha, Velasco, Juan, Real, Luis M., and Ruiz-Peña, Juan Luis
- Subjects
GENETICS of multiple sclerosis ,MEDICAL genetics ,GENOMES ,LOCUS (Genetics) ,GENOMICS - Abstract
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 nongenetic 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 = 1.36x10-9). 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. [ABSTRACT FROM AUTHOR]
- Published
- 2012
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