RT Journal Article
T1 Genome-wide association study of multiple sclerosis confirms a novel locus at 5p13.1
A1 Matesanz, Fuencisla
A1 González-Pérez, Antonio
A1 Lucas, Miguel
A1 Sanna, Serena
A1 Gayán, Javier
A1 Urcelay, Elena
A1 Zara, Ilenia
A1 Pitzalis, Maristella
A1 Cavanillas, María L
A1 Arroyo, Rafael
A1 Zoledziewska, Magdalena
A1 Marrosu, Marisa
A1 Fernández Fernández, Óscar
A1 Leyva-Fernández, Laura
A1 Alcina, Antonio
A1 Fedetz, María
A1 Moreno-Rey, Concha
A1 Velasco, Juan
A1 Real, Luis M.
A1 Ruiz-Peña, Juan Luis
A1 Cucca, Francesco
A1 Ruiz, Agustín
A1 Izquierdo, Guillermo
A1 Matesanz, 
K1 Esclerosis múltiple - Aspectos genéticos
AB 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 (OR pooled = 0.84; 95%CI: 0.80–0.89; p = 1.36 x 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.
PB Public Library of Science
YR 2012
FD 2012
LK https://hdl.handle.net/10630/36137
UL https://hdl.handle.net/10630/36137
LA eng
NO Matesanz F, González-Pérez A, Lucas M, Sanna S, Gayán J, Urcelay E, Zara I, Pitzalis M, Cavanillas ML, Arroyo R, Zoledziewska M, Marrosu M, Fernández O, Leyva L, Alcina A, Fedetz M, Moreno-Rey C, Velasco J, Real LM, Ruiz-Peña JL, Cucca F, Ruiz A, Izquierdo G. Genome-wide association study of multiple sclerosis confirms a novel locus at 5p13.1. PLoS One. 2012;7(5):e36140. doi: 10.1371/journal.pone.0036140. Epub 2012 May 3. PMID: 22570697; PMCID: PMC3343041
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