Genome-wide association study of multiple sclerosis confirms a novel locus at 5p13.1. (Articolo in rivista)

Type
Label
  • Genome-wide association study of multiple sclerosis confirms a novel locus at 5p13.1. (Articolo in rivista) (literal)
Anno
  • 2012-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.1371/journal.pone.0036140 (literal)
Alternative label
  • 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. (2012)
    Genome-wide association study of multiple sclerosis confirms a novel locus at 5p13.1.
    in PloS one
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • 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. (literal)
Rivista
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • 1Unidad de Esclerosis Múltiple, Hospital Virgen Macarena, Sevilla, Spain 2Department of Structural Genomics, Neocodex, Sevilla, Spain 3Servicio de Biología Molecular, Hospital Virgen Macarena, Sevilla, Spain 4Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, Monserrato, Italy 5Immunology Department, H. Clínico S. Carlos, Instituto de Investigación Sanitaria S. Carlos (IdISSC), Madrid, Spain 6Center for Advanced Studies, Research and Development in Sardinia (CRS4), AGCT, Parco tecnologico della Sardegna, Pula, Italy 7Dipartimento di Scienze Biomediche, Università di Sassari, Sassari, Italy 8Multiple Sclerosis Unit, Neurology Department, H. Clínico S. Carlos, Instituto de Investigación Sanitaria S. Carlos (IdISSC), Madrid, Spain 9Dipartimento di Scienze Neurologiche e Cardiovascolari, Centro Sclerosi Multipla, Università di Cagliari, Cagliari, Italy 10Servicio de Neurología, Instituto de Neurociencias Clínicas, Hospital Regional Universitario Carlos Haya, Málaga, Spain 11Instituto de Parasitología y Biomedicina \"López Neyra\", CSIC, Granada, Spain Institute Biomedical Research August Pi Sunyer (IDIBAPS) - Hospital Clinic of Barcelona, Spain (literal)
Titolo
  • Genome-wide association study of multiple sclerosis confirms a novel locus at 5p13.1. (literal)
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 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. (literal)
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