Functional genomics of Diabetes SNPs
/Risk variants disrupting enhancers of TH1 and TREG cells in type 1 diabetes
Peng Gao, Yasin Uzun, Bing He, Sarah E. Salamati, Julie K. M. Coffey, Eva Tsalikian, & Kai Tan
PNAS (Research Article)
Functional interpretation of noncoding genetic variants identified by genome-wide association studies is a major challenge in human genetics and gene regulation. We generated epigenomics data using primary cells from type 1 diabetes patients. Using these data, we identified and validated multiple novel risk variants for this disease. In addition, our ranked list of candidate risk SNPs represents the most comprehensive annotation based on T1D-specific T-cell data. Because many autoimmune diseases share some genetic underpinnings, our dataset may be used to understand causal noncoding mutations in related autoimmune diseases.
