PLoS ONE (Jan 2012)

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

  • Fuencisla Matesanz,
  • Antonio González-Pérez,
  • Miguel Lucas,
  • Serena Sanna,
  • Javier Gayán,
  • Elena Urcelay,
  • Ilenia Zara,
  • Maristella Pitzalis,
  • María L Cavanillas,
  • Rafael Arroyo,
  • Magdalena Zoledziewska,
  • Marisa Marrosu,
  • Oscar Fernández,
  • Laura Leyva,
  • Antonio Alcina,
  • Maria Fedetz,
  • Concha Moreno-Rey,
  • Juan Velasco,
  • Luis M Real,
  • Juan Luis Ruiz-Peña,
  • Francesco Cucca,
  • Agustín Ruiz,
  • Guillermo Izquierdo

DOI
https://doi.org/10.1371/journal.pone.0036140
Journal volume & issue
Vol. 7, no. 5
p. e36140

Abstract

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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.