TY - JOUR
T1 - Genome-wide association study of multiple sclerosis confirms a novel locus at 5p13.1
AU - Matesanz, Fuencisla
AU - González-Pérez, Antonio
AU - Lucas, Miguel
AU - Sanna, Serena
AU - Gayán, Javier
AU - Urcelay, Elena
AU - Zara, Ilenia
AU - Pitzalis, Maristella
AU - Cavanillas, María L.
AU - Arroyo, Rafael
AU - Zoledziewska, Magdalena
AU - Marrosu, Marisa
AU - Fernández, Oscar
AU - Leyva, Laura
AU - Alcina, Antonio
AU - Fedetz, Maria
AU - Moreno-Rey, Concha
AU - Velasco, Juan
AU - Real, Luis M.
AU - Ruiz-Peña, Juan Luis
AU - Cucca, Francesco
AU - Ruiz, Agustín
AU - Izquierdo, Guillermo
PY - 2012/5/3
Y1 - 2012/5/3
N2 - 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.
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 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.
UR - https://www.scopus.com/pages/publications/84860524935
UR - https://www.scopus.com/pages/publications/84860524935#tab=citedBy
U2 - 10.1371/journal.pone.0036140
DO - 10.1371/journal.pone.0036140
M3 - Article
C2 - 22570697
AN - SCOPUS:84860524935
SN - 1932-6203
VL - 7
JO - PloS one
JF - PloS one
IS - 5
M1 - e36140
ER -