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Genome-wide association study of multiple sclerosis confirms a novel locus at 5p13.1.

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dc.contributor.authorMatesanz, Fuencisla
dc.contributor.authorGonzález-Pérez, Antonio
dc.contributor.authorLucas, Miguel
dc.contributor.authorSanna, Serena
dc.contributor.authorGayán, Javier
dc.contributor.authorUrcelay, Elena
dc.contributor.authorZara, Ilenia
dc.contributor.authorPitzalis, Maristella
dc.contributor.authorCavanillas, María L
dc.contributor.authorArroyo, Rafael
dc.contributor.authorZoledziewska, Magdalena
dc.contributor.authorMarrosu, Marisa
dc.contributor.authorFernández, Oscar
dc.contributor.authorLeyva, Laura
dc.contributor.authorAlcina, Antonio
dc.contributor.authorFedetz, Maria
dc.contributor.authorMoreno-Rey, Concha
dc.contributor.authorVelasco, Juan
dc.contributor.authorReal, Luis M
dc.contributor.authorRuiz-Peña, Juan Luis
dc.contributor.authorCucca, Francesco
dc.contributor.authorRuiz, Agustín
dc.contributor.authorIzquierdo, Guillermo
dc.contributor.authoraffiliation[Matesanz,F; Ruiz-Peña,JL; Izquierdo,G ] Unidad de Esclerosis Múltiple, Hospital Virgen Macarena, Sevilla, Spain. [González-Pérez,A; Gayán,J; Moreno-Rey,C; Velasco,J; Real,LM; Ruiz,A] Department of Structural Genomics, Neocodex, Sevilla, Spain. [Lucas,M] Servicio de Biología Molecular, Hospital Virgen Macarena, Sevilla, Spain. [Sanna,S; Cucca,F] Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, Monserrato, Italy. [Urcelay,E; Cavanillas,ML] Immunology Department, H. Clínico S. Carlos, Instituto de Investigación Sanitaria S. Carlos (IdISSC), Madrid, Spain. [Zara,E] Center for Advanced Studies, Research and Development in Sardinia (CRS4), AGCT, Parco tecnologico della Sardegna, Pula, Italy. [Pitzalis,M; Zoledziewska,M; Cucca,F] Dipartimento di Scienze Biomediche, Università di Sassari, Sassari, Italy. [Arroyo,R] Multiple Sclerosis Unit, Neurology Department, H.Clínico S. Carlos, Instituto de Investigación Sanitaria S. Carlos (IdISSC), Madrid, Spain. [Marrosu,M] Dipartimento di Scienze Neurologiche e Cardiovascolari, Centro Sclerosi Multipla, Università di Cagliari, Cagliari, Italy. [Fernández,O; Leyva,L] Servicio de Neurología, Instituto de Neurociencias Clínicas, Hospital Regional Universitario Carlos Haya, Málaga, Spain. [Alcina,A; Fedetz,M] Instituto de Parasitología y Biomedicina "López Neyra", CSIC, Granada, Spain.es
dc.contributor.funderFunding: The Macarena MS project was supported by Neuroinvest, Carlos III, and Fonde de Investigaciones Sanitarias (FIS) grants. The project to collect and genotype the Spanish controls was supported in part by: Agencia IDEA, Consejería de Innovación, Ciencia y Empresa, Junta de Andalucía (830882); Corporación Tecnológica de Andalucía (07/124); Ministerio de Educación y Ciencia (PCT-A41502790-2007 and PCT-010000-2007-18); Programa de Ayudas Torres Quevedo del Ministerio de Ciencia e Innovación (PTQ2002-0206, PTQ2003-0549, PTQ2003-0546, PTQ2003-0782, PTQ2003-0783, PTQ2004-0838, PTQ04-1-0006, PTQ04-3-0718, PTQ06-1-0002). CIBER de Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM) is an ISCIII project. The validation project was supported by Fondos Europeos de Desarrollo Regional (P09-CTS-5218 FEDER), Ministerio de Ciencia e Innovación (SAF2009-11491) to Dr. Alcina, and Fondo de Investigación Sanitaria (PI081636) to Dr. Matesanz, and FIS PI10/1985. Funding support for the IMSGC GWAS of Multiple Sclerosis and the Genetic Multiple Sclerosis Associations (GeneMSA) projects were provided by National Institutes of Health (NIH) and GlaxoSmithKline, respectively, and the genotyping of samples was provided by the National Institute of Neurological Disorders and Stroke (NINDS). Some of the datasets used for the analyses described in this manuscript were obtained from the NINDS Database found at http://www.ncbi.nlm.nih.gov/sites/entrez?db=gap through dbGaP accession numbers phs000139.v1.p1 and phs000171.v1.p1. This study also makes use of data generated by the Wellcome Trust Case-Control Consortium. A full list of the investigators who contributed to the generation of the data is available from www.wtccc.org.uk. Funding for the project was provided by the Wellcome Trust under awards 076113 and 085475. This Sardinian GWAS study was supported by the Fondazione Italiana Sclerosi Multipla (FISM) Cod. 2008/R/7 to Dr. Cucca, by the Italian Ministry of Scientific Research (MIUR grant 2007KXNKNP) and by US National Institutes of Health contract NO1-AG-1-2109 from National Institute of Aging (NIA) to the SardiNIA (‘ProgeNIA’) team. Sardinian GWAS authors are grateful to all cases and controls, and to the wide network of collaborators, clinicians and nurses of clinical and hospitals in the island. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.
dc.date.accessioned2013-05-09T08:33:45Z
dc.date.available2013-05-09T08:33:45Z
dc.date.issued2012-05-03
dc.descriptionJournal Article; Meta-Analysis; Research Support, Non-U.S. Gov't;es
dc.description.abstractMultiple 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.es
dc.description.versionYeses
dc.identifier.citationMatesanz F, González-Pérez A, Lucas M, Sanna S, Gayán J, Urcelay E, et al. Genome-wide association study of multiple sclerosis confirms a novel locus at 5p13.1. PLoS ONE. 2012; 7(5):e36140es
dc.identifier.doi10.1371/journal.pone.0036140
dc.identifier.essn1932-6203
dc.identifier.pmcPMC3343041
dc.identifier.pmid22570697
dc.identifier.urihttp://hdl.handle.net/10668/956
dc.journal.titlePloS one
dc.language.isoen
dc.publisherPublic Library of Sciencees
dc.relation.publisherversionhttp://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0036140es
dc.rights.accessRightsopen access
dc.subjectEstudios de Casos y Controleses
dc.subjectAdultoes
dc.subjectCromosomas Humanos Par 5es
dc.subjectEnfermedad de Crohnes
dc.subjectGrupo de Ascendencia Continental Europeaes
dc.subjectDesequilibrio de Ligamientoes
dc.subjectEsclerosis Múltiplees
dc.subjectSitios de Carácter Cuantitativoes
dc.subject.meshMedical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Epidemiologic Study Characteristics as Topic::Epidemiologic Studies::Case-Control Studieses
dc.subject.meshMedical Subject Headings::Anatomy::Cells::Cellular Structures::Chromosomes::Chromosomes, Mammalian::Chromosomes, Human::Chromosomes, Human, 4-5::Chromosomes, Human, Pair 5es
dc.subject.meshMedical Subject Headings::Diseases::Digestive System Diseases::Gastrointestinal Diseases::Gastroenteritis::Inflammatory Bowel Diseases::Crohn Diseasees
dc.subject.meshMedical Subject Headings::Named Groups::Persons::Population Groups::Continental Population Groups::European Continental Ancestry Groupes
dc.subject.meshMedical Subject Headings::Check Tags::Femalees
dc.subject.meshMedical Subject Headings::Diseases::Pathological Conditions, Signs and Symptoms::Pathologic Processes::Disease Attributes::Disease Susceptibility::Genetic Predisposition to Diseasees
dc.subject.meshMedical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Molecular Epidemiology::Genome-Wide Association Studyes
dc.subject.meshMedical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humanses
dc.subject.meshMedical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Linkage::Linkage Disequilibriumes
dc.subject.meshMedical Subject Headings::Check Tags::Malees
dc.subject.meshMedical Subject Headings::Diseases::Nervous System Diseases::Autoimmune Diseases of the Nervous System::Demyelinating Autoimmune Diseases, CNS::Multiple Sclerosises
dc.subject.meshMedical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::Polymorphism, Genetic::Polymorphism, Single Nucleotidees
dc.subject.meshMedical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genetic Loci::Quantitative Trait Locies
dc.subject.meshMedical Subject Headings::Geographicals::Geographic Locations::Europe::Spaines
dc.subject.meshMedical Subject Headings::Named Groups::Persons::Age Groups::Adult::Young Adultes
dc.subject.meshMedical Subject Headings::Named Groups::Persons::Age Groups::Adultes
dc.titleGenome-wide association study of multiple sclerosis confirms a novel locus at 5p13.1.es
dc.typeresearch article
dc.type.hasVersionVoR
dspace.entity.typePublication

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