A rareIL2RAhaplotype identifies SNP rs61839660 as causal for autoimmunity
Rainbow DB., Pekalski M., Cutler AJ., Burren O., Walker N., Todd JA., Wallace C., Wicker LS.
AbstractIL2RAis associated with multiple autoimmune diseases including type 1 diabetes (T1D). Higher expression ofIL2RAmRNA 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, reducesIL2RAexpression and T1D protection, identifying it as the causal factor in disease.