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

被引：5

作者：

Qu, Jingchun ^{[1
]}

Qu, Hui-Qi ^{[1
]}

Brad, Jonathan P. ^{[2
]}

Glessner, Joseph T. ^{[1
]}

Chang, Xiao ^{[1
]}

Tian, Lifeng ^{[1
]}

March, Michael E. ^{[1
]}

Roizen, Jeffrey D. ^{[3
]}

Sleiman, Patrick M. ^{[1
,3
,4
]}

Hakonarson, Hakon ^{[1
,3
,4
,5
]}

机构：

[1] Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USA

[2] Quantinuum Res LLC, San Diego, CA 92101 USA

[3] Univ Penn, Dept Pediat, Perelman Sch Med, Philadelphia, PA 19104 USA

[4] Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USA

[5] Childrens Hosp Philadelphia, Div Pulm Med, Philadelphia, PA 19104 USA

来源：

METABOLISM-CLINICAL AND EXPERIMENTAL | 2021年 / 114卷

关键词：

DLL1; Gene-based test; Genome-wide Association Study; Polygenic risk score; Type; 1; diabetes; ACCELERATOR HYPOTHESIS; GENE; LOCUS;

D O I：

10.1016/j.metabol.2020.154418

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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. (C) 2020 Elsevier Inc. All rights reserved.

引用

页数：3

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