Replication study of multiple sclerosis (MS) susceptibility alleles and correlation of DNA-variants with disease features in a cohort of Austrian MS patients

Neurogenetics. 2012 May;13(2):181-7. doi: 10.1007/s10048-012-0316-y. Epub 2012 Mar 14.

Abstract

We performed a replication study in 883 Austrian multiple sclerosis (MS) patients and 972 control individuals for 25 previously risk-associated loci (39 SNPs). Two loci, rs1109670 (DDEF2/MBOAT2, p < 0.02) and rs16914086 (TBC1D2, p < 0.05), are replicated here for the first time. Furthermore, we tested all 39 SNPs for association with age at disease onset and measures of disease severity. We observed a trend for association of rs3135388 (HLA-DRB1*1501, p < 0.01), rs7090530 (IL2RA, p < 0.026) and rs1841770 (ZIC1, p < 0.017) with a younger age at MS onset and of rs12044852 (CD58, p < 0.035) with shorter time to reach EDSS6.

MeSH terms

  • Adult
  • Age of Onset
  • Aged
  • Alleles
  • Austria
  • Cohort Studies
  • DNA / genetics*
  • DNA / metabolism
  • DNA Replication*
  • Female
  • Gene Frequency / genetics
  • Genetic Predisposition to Disease*
  • Genotype
  • Humans
  • Male
  • Middle Aged
  • Multiple Sclerosis / genetics*
  • Multiple Sclerosis / metabolism
  • Polymorphism, Single Nucleotide
  • Severity of Illness Index

Substances

  • DNA