Matesanz, FuencislaGonzález-Pérez, AntonioLucas, MiguelSanna, SerenaGayán, JavierUrcelay, ElenaZara, IleniaPitzalis, MaristellaCavanillas, María LArroyo, RafaelZoledziewska, MagdalenaMarrosu, MarisaFernández, OscarLeyva, LauraAlcina, AntonioFedetz, MariaMoreno-Rey, ConchaVelasco, JuanReal, Luis MRuiz-Peña, Juan LuisCucca, FrancescoRuiz, AgustínIzquierdo, Guillermo2013-05-092013-05-092012-05-03Matesanz 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):e36140http://hdl.handle.net/10668/956Journal Article; Meta-Analysis; Research Support, Non-U.S. Gov't;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.enEstudios de Casos y ControlesAdultoCromosomas Humanos Par 5Enfermedad de CrohnGrupo de Ascendencia Continental EuropeaDesequilibrio de LigamientoEsclerosis MúltipleSitios de Carácter CuantitativoMedical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Epidemiologic Study Characteristics as Topic::Epidemiologic Studies::Case-Control StudiesMedical Subject Headings::Anatomy::Cells::Cellular Structures::Chromosomes::Chromosomes, Mammalian::Chromosomes, Human::Chromosomes, Human, 4-5::Chromosomes, Human, Pair 5Medical Subject Headings::Diseases::Digestive System Diseases::Gastrointestinal Diseases::Gastroenteritis::Inflammatory Bowel Diseases::Crohn DiseaseMedical Subject Headings::Named Groups::Persons::Population Groups::Continental Population Groups::European Continental Ancestry GroupMedical Subject Headings::Check Tags::FemaleMedical Subject Headings::Diseases::Pathological Conditions, Signs and Symptoms::Pathologic Processes::Disease Attributes::Disease Susceptibility::Genetic Predisposition to DiseaseMedical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Molecular Epidemiology::Genome-Wide Association StudyMedical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::HumansMedical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Linkage::Linkage DisequilibriumMedical Subject Headings::Check Tags::MaleMedical Subject Headings::Diseases::Nervous System Diseases::Autoimmune Diseases of the Nervous System::Demyelinating Autoimmune Diseases, CNS::Multiple SclerosisMedical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::Polymorphism, Genetic::Polymorphism, Single NucleotideMedical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genetic Loci::Quantitative Trait LociMedical Subject Headings::Geographicals::Geographic Locations::Europe::SpainMedical Subject Headings::Named Groups::Persons::Age Groups::Adult::Young AdultMedical Subject Headings::Named Groups::Persons::Age Groups::Adultresearch article22570697open access10.1371/journal.pone.00361401932-6203PMC3343041