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.
<jats:title>Abstract</jats:title><jats:p><jats:italic>IL2RA</jats:italic> is associated with multiple autoimmune diseases including type 1 diabetes (T1D). Higher expression of <jats:italic>IL2RA</jats:italic> 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 <jats:italic>IL2RA</jats:italic> expression and T1D protection, identifying it as the causal factor in disease.</jats:p>