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<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>

Original publication

DOI

10.1101/108126

Type

Journal article

Publisher

Cold Spring Harbor Laboratory

Publication Date

15/02/2017