title: Genome-wide association study of multiple sclerosis confirms a novel locus at 5p13.1.
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.
authors.affiliation: Unidad de Esclerosis Múltiple, Hospital Virgen Macarena, Sevilla, Spain.
authors.forename: Fuencisla
authors.initials: F
authors.lastname: Matesanz
authors.forename: Antonio
authors.initials: A
authors.lastname: González-Pérez
authors.forename: Miguel
authors.initials: M
authors.lastname: Lucas
authors.forename: Serena
authors.initials: S
authors.lastname: Sanna
authors.forename: Javier
authors.initials: J
authors.lastname: Gayán
authors.forename: Elena
authors.initials: E
authors.lastname: Urcelay
authors.forename: Ilenia
authors.initials: I
authors.lastname: Zara
authors.forename: Maristella
authors.initials: M
authors.lastname: Pitzalis
authors.forename: María L
authors.initials: ML
authors.lastname: Cavanillas
authors.forename: Rafael
authors.initials: R
authors.lastname: Arroyo
authors.forename: Magdalena
authors.initials: M
authors.lastname: Zoledziewska
authors.forename: Marisa
authors.initials: M
authors.lastname: Marrosu
authors.forename: Oscar
authors.initials: O
authors.lastname: Fernández
authors.forename: Laura
authors.initials: L
authors.lastname: Leyva
authors.forename: Antonio
authors.initials: A
authors.lastname: Alcina
authors.forename: Maria
authors.initials: M
authors.lastname: Fedetz
authors.forename: Concha
authors.initials: C
authors.lastname: Moreno-Rey
authors.forename: Juan
authors.initials: J
authors.lastname: Velasco
authors.forename: Luis M
authors.initials: LM
authors.lastname: Real
authors.forename: Juan Luis
authors.initials: JL
authors.lastname: Ruiz-Peña
authors.forename: Francesco
authors.initials: F
authors.lastname: Cucca
authors.forename: Agustín
authors.initials: A
authors.lastname: Ruiz
authors.forename: Guillermo
authors.initials: G
authors.lastname: Izquierdo
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D002895:Chromosomes, Human, Pair 5; D003424:Crohn Disease / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D009103:Multiple Sclerosis / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D040641:Quantitative Trait Loci; D013030:Spain; D044465:White People / Q000235:genetics; D055815:Young Adult