A rareIL2RAhaplotype identifies SNP rs61839660 as causal for autoimmunity
Rainbow DB., Pekalski ML., Cutler A., Burren OS., Walker N., Todd J., Wallace C., Wicker L.
<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>