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Association of DLL1 with type 1 diabetes in patients characterized by low polygenic risk score.
Qu, Jingchun; Qu, Hui-Qi; Bradfield, Jonathan P; Glessner, Joseph T; Chang, Xiao; Tian, Lifeng; March, Michael E; Roizen, Jeffrey D; Sleiman, Patrick M; Hakonarson, Hakon.
Afiliação
  • Qu J; The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Qu HQ; The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Bradfield JP; Quantinuum Research LLC, San Diego, CA 92101, USA.
  • Glessner JT; The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Chang X; The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Tian L; The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • March ME; The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Roizen JD; Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Sleiman PM; The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 191
  • Hakonarson H; The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 191
Metabolism ; 114: 154418, 2021 01.
Article em En | MEDLINE | ID: mdl-33157082
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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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas de Ligação ao Cálcio / Predisposição Genética para Doença / Polimorfismo de Nucleotídeo Único / Diabetes Mellitus Tipo 1 / Proteínas de Membrana Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas de Ligação ao Cálcio / Predisposição Genética para Doença / Polimorfismo de Nucleotídeo Único / Diabetes Mellitus Tipo 1 / Proteínas de Membrana Idioma: En Ano de publicação: 2021 Tipo de documento: Article