Association of DLL1 with type 1 diabetes in patients characterized by low polygenic risk score

Metabolism. 2021 Jan;114:154418. doi: 10.1016/j.metabol.2020.154418. Epub 2020 Nov 4.


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.

Keywords: DLL1; Gene-based test; Genome-wide Association Study; Polygenic risk score; Type 1 diabetes.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Calcium-Binding Proteins / genetics*
  • Diabetes Mellitus, Type 1 / genetics*
  • Female
  • Genetic Association Studies
  • Genetic Predisposition to Disease*
  • Genome-Wide Association Study
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Polymorphism, Single Nucleotide*


  • Calcium-Binding Proteins
  • DLK1 protein, human
  • Membrane Proteins