Fine mapping of multiple sclerosis susceptibility genes provides evidence of allelic heterogeneity at the IL2RA locus

Devindri Perera, Jim Stankovich, Helmut Butzkueven, Bruce V. Taylor, Simon J. Foote, Trevor J. Kilpatrick, Justin P. Rubio

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23 Citations (Scopus)


Multiple sclerosis (MS) is a genetically complex autoimmune disease. To dissect further the involvement of four recent identified MS susceptibility genes (KIAA0350, IL2RA, RPL5 and CD58) in disease pathogenesis, we genotyped 94 haplotype-tagging single nucleotide polymorphisms (SNPs) from these loci in 1146 MS cases and 1309 controls. Seven newly-typed SNP variants were nominally associated with risk of MS, and one SNP (rs791589) in the first intron of the IL2RA gene remained associated after adjustment for rs2104286 genotype, a previously reported SNP association. These data provide further evidence of allelic heterogeneity at the IL2RA locus and point to the existence of at least two independent MS susceptibility alleles.

Original languageEnglish
Pages (from-to)105-109
Number of pages5
JournalJournal of Neuroimmunology
Issue number1-2
Publication statusPublished - 25 Jun 2009


  • Fine mapping
  • IL2RA
  • Multiple sclerosis
  • Susceptibility gene

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