| Contributors: |
Matesanz, F; González Pérez, A; Lucas, M; Sanna, S; Gayán, J; Urcelay, E; Zara, I; Pitzalis, M; Cavanillas, Ml; Arroyo, R; Zoledziewska, M; Marrosu, MARIA GIOVANNA; Fernández, O; Leyva, L; Alcina, A; Fedetz, M; Moreno Rey, C; Velasco, J; Real, Lm; Ruiz Peña, Jl; Cucca, F; Ruiz, A; Izquierdo, G. |
| Description: |
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. |