PT  - JOURNAL ARTICLE
AU  - Daniel B. Rainbow
AU  - Marcin Pekalski
AU  - Antony J. Cutler
AU  - Oliver Burren
AU  - Neil Walker
AU  - John A. Todd
AU  - Chris Wallace
AU  - Linda S. Wicker
TI  - A rare <em>IL2RA</em> haplotype identifies SNP rs61839660 as causal for autoimmunity
AID  - 10.1101/108126
DP  - 2017 Jan 01
TA  - bioRxiv
PG  - 108126
4099  - http://biorxiv.org/content/early/2017/02/14/108126.short
4100  - http://biorxiv.org/content/early/2017/02/14/108126.full
AB  - 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.