Association of the HLA region with multiple sclerosis as confirmed by a genome screen using >10,000 SNPs on DNA chips

J Mol Med (Berl). 2005 Jun;83(6):486-94. doi: 10.1007/s00109-005-0650-8. Epub 2005 Mar 16.


Multiple sclerosis (MS) is a chronic inflammatory disease of the central nervous system, with a complex genetic background. Here, we present a genome screen for association in small scale, employing 11,555 single nucleotide polymorphisms (SNPs) on DNA chips for genotyping 100 MS patients stratified for HLA-DR2+ and 100 controls. More than 500 SNPs revealed significant differences between cases and controls before Bonferroni correction. A fraction of these SNPs was reanalysed in two additional cohorts of patients and controls, using high-throughput genotyping methods. A marker on chromosome 6p21.32 (rs2395182) yielded the highest significance level, validating the established HLA-DR association.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Genetic Linkage
  • Genetic Markers
  • Genetic Testing
  • Genome
  • HLA-DR Antigens / genetics*
  • HLA-DR2 Antigen / genetics*
  • HLA-DRB1 Chains
  • Humans
  • Multiple Sclerosis / etiology
  • Multiple Sclerosis / genetics*
  • Oligonucleotide Array Sequence Analysis*
  • Polymorphism, Single Nucleotide*


  • Genetic Markers
  • HLA-DR Antigens
  • HLA-DR2 Antigen
  • HLA-DRB1 Chains