What is it about?

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.

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Why is it important?

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.

Perspectives

The identification of DLL1association with low PRS T1D cases highlights the pathogenesis mediated by impaired glucose tolerance.

Dr. Hui-Qi Qu
Children's Hospital of Philadelphia

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This page is a summary of: Association of DLL1 with type 1 diabetes in patients characterized by low polygenic risk score, Metabolism, January 2021, Elsevier,
DOI: 10.1016/j.metabol.2020.154418.
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