Please use this identifier to cite or link to this item:
Title: Genome-wide association study of multiple sclerosis confirms a novel locus at 5p13.1.
Authors: Matesanz, Fuencisla
González-Pérez, Antonio
Lucas, Miguel
Sanna, Serena
Gayán, Javier
Urcelay, Elena
Zara, Ilenia
Pitzalis, Maristella
Cavanillas, María L
Arroyo, Rafael
Zoledziewska, Magdalena
Marrosu, Marisa
Fernández, Oscar
Leyva, Laura
Alcina, Antonio
Fedetz, Maria
Moreno-Rey, Concha
Velasco, Juan
Real, Luis M
Ruiz-Peña, Juan Luis
Cucca, Francesco
Ruiz, Agustín
Izquierdo, Guillermo
metadata.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.
Keywords: Estudios de Casos y Controles;Adulto;Cromosomas Humanos Par 5;Enfermedad de Crohn;Grupo de Ascendencia Continental Europea;Desequilibrio de Ligamiento;Esclerosis Múltiple;Sitios de Carácter Cuantitativo
metadata.dc.subject.mesh: Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Epidemiologic Study Characteristics as Topic::Epidemiologic Studies::Case-Control Studies
Medical Subject Headings::Anatomy::Cells::Cellular Structures::Chromosomes::Chromosomes, Mammalian::Chromosomes, Human::Chromosomes, Human, 4-5::Chromosomes, Human, Pair 5
Medical Subject Headings::Diseases::Digestive System Diseases::Gastrointestinal Diseases::Gastroenteritis::Inflammatory Bowel Diseases::Crohn Disease
Medical Subject Headings::Named Groups::Persons::Population Groups::Continental Population Groups::European Continental Ancestry Group
Medical Subject Headings::Check Tags::Female
Medical Subject Headings::Diseases::Pathological Conditions, Signs and Symptoms::Pathologic Processes::Disease Attributes::Disease Susceptibility::Genetic Predisposition to Disease
Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Molecular Epidemiology::Genome-Wide Association Study
Medical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Linkage::Linkage Disequilibrium
Medical Subject Headings::Check Tags::Male
Medical Subject Headings::Diseases::Nervous System Diseases::Autoimmune Diseases of the Nervous System::Demyelinating Autoimmune Diseases, CNS::Multiple Sclerosis
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::Polymorphism, Genetic::Polymorphism, Single Nucleotide
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genetic Loci::Quantitative Trait Loci
Medical Subject Headings::Geographicals::Geographic Locations::Europe::Spain
Medical Subject Headings::Named Groups::Persons::Age Groups::Adult::Young Adult
Medical Subject Headings::Named Groups::Persons::Age Groups::Adult
Issue Date: 3-May-2012
Publisher: Public Library of Science
Citation: Matesanz 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):e36140
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.
Description: Journal Article; Meta-Analysis; Research Support, Non-U.S. Gov't;
metadata.dc.identifier.doi: 10.1371/journal.pone.0036140
ISSN: 1932-6203 (Online)
Appears in Collections:01- Artículos - Hospital Regional de Málaga
01- Artículos - Hospital Virgen Macarena

Files in This Item:
File Description SizeFormat 
MatesanzF_Genome-Wide Association Study of Multiple Sclerosis.pdfResearch Article492,44 kBAdobe PDFView/Open

This item is protected by original copyright

This item is licensed under a Creative Commons License Creative Commons