A rare IL2RA haplotype identifies SNP rs61839660 as causal for autoimmunity

Daniel B. Rainbow; Marcin Pekalski; Antony J. Cutler; Oliver S. Burren; Neil M Walker; John A. Todd; Chris Wallace; Linda S. Wicker

doi:10.1101/108126

GeneticsbioRxivFeb 14, 2017

Preprint

A rare IL2RA haplotype identifies SNP rs61839660 as causal for autoimmunity

Daniel B. Rainbow iD, Marcin Pekalski iD, Antony J. Cutler iD, Oliver S. Burren iD, Neil M Walker iD, John A. Todd iD, Chris Wallace iD, Linda S. Wicker iD

Abstract

IL2RA 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.

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