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Association of DLL1 with type 1 diabetes in patients characterized by low polygenic risk score
Jingchun Qu1, Hui-Qi Qu1, Jonathan P Bradfield2
1The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Abstract:
Type 1 diabetes (T1D) is a heterogeneous disease. This study identified T1D cases with low polygenic risk score (PRS) to better represent T1D cases with less prominent autoimmune response (T1bD), and performed a gene-based association study to identify novel susceptibility loci in two independent cohorts, characterized by low PRS. The Notch ligand Delta-like 1 gene (DLL1) was identified with genome-wide significance in both cohorts, highlighting the roles of DLL1 genetic variants in T1D patients with low PRS, supported by functional evidence from a recent study by Rubey et al.
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