A rare IL2RA haplotype identifies SNP rs61839660 as causal for autoimmunity
Rainbow DB., Pekalski M., Cutler AJ., Burren O., Walker N., Todd JA., Wallace C., Wicker LS.
AbstractIL2RA is associated with multiple autoimmune diseases including type 1 diabetes (T1D). Higher expression of IL2RA mRNA and its protein product CD25 in T lymphocytes is associated with a T1D-protective haplotype. Here we show that a rare variation of this haplotype that loses the protective allele at a single SNP, rs61839660, reduces IL2RA expression and T1D protection, identifying it as the causal factor in disease.