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Association of genetic markers with CSF oligoclonal bands in multiple sclerosis patients.

  • Author(s): Leone, Maurizio A
  • Barizzone, Nadia
  • Esposito, Federica
  • Lucenti, Ausiliatrice
  • Harbo, Hanne F
  • Goris, An
  • Kockum, Ingrid
  • Oturai, Annette Bang
  • Celius, Elisabeth Gulowsen
  • Mero, Inger L
  • Dubois, Bénédicte
  • Olsson, Tomas
  • Søndergaard, Helle Bach
  • Cusi, Daniele
  • Lupoli, Sara
  • Andreassen, Bettina Kulle
  • International Multiple Sclerosis Genetics Consortium
  • Wellcome Trust Case Control Consortium 2
  • Myhr, Kjell-Morten
  • Guerini, Franca R
  • PROGEMUS Group
  • Comi, Giancarlo
  • Martinelli-Boneschi, Filippo
  • D'Alfonso, Sandra
  • et al.

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to explore the association between genetic markers and Oligoclonal Bands (OCB) in the Cerebro Spinal Fluid (CSF) of Italian Multiple Sclerosis patients.


We genotyped 1115 Italian patients for HLA-DRB1*15 and HLA-A*02. In a subset of 925 patients we tested association with 52 non-HLA SNPs associated with MS susceptibility and we calculated a weighted Genetic Risk Score. Finally, we performed a Genome Wide Association Study (GWAS) with OCB status on a subset of 562 patients. The best associated SNPs of the Italian GWAS were replicated in silico in Scandinavian and Belgian populations, and meta-analyzed.


HLA-DRB1*15 is associated with OCB+: p = 0.03, Odds Ratio (OR) = 1.6, 95% Confidence Limits (CL) = 1.1-2.4. None of the 52 non-HLA MS susceptibility loci was associated with OCB, except one SNP (rs2546890) near IL12B gene (OR: 1.45; 1.09-1.92). The weighted Genetic Risk Score mean was significantly (p = 0.0008) higher in OCB+ (7.668) than in OCB- (7.412) patients. After meta-analysis on the three datasets (Italian, Scandinavian and Belgian) for the best associated signals resulted from the Italian GWAS, the strongest signal was a SNP (rs9320598) on chromosome 6q (p = 9.4×10(-7)) outside the HLA region (65 Mb).


genetic factors predispose to the development of OCB.

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