Fine mapping of multiple sclerosis susceptibility genes provides evidence of allelic heterogeneity at the IL2RA locus.
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.
Perera
Devindri
D
Menzies Research Institute, University of Tasmania, Hobart, Australia.
Stankovich
Jim
J
Butzkueven
Helmut
H
Taylor
Bruce V
BV
Foote
Simon J
SJ
Kilpatrick
Trevor J
TJ
Rubio
Justin P
JP
D018740:Genetic Heterogeneity; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D053645:Interleukin-2 Receptor alpha Subunit / Q000235:genetics*; D009103:Multiple Sclerosis / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide
C508017:IL2RA protein, human; D053645:Interleukin-2 Receptor alpha Subunit