Sequencing reveals protective and pathogenic effects on development of diabetes of rare GLIS3 variants.

ABSTRACT:

Background

Based on the association of common GLIS3 variants with various forms of diabetes and the biological role of GLIS3 in beta-cells, we sequenced GLIS3 in non-diabetic and diabetic Danes to investigate the effect of rare missense variants on glucose metabolism.

Methods

We sequenced 53 patients with maturity-onset diabetes of the young (MODY), 5,726 non-diabetic participants, 2,930 patients with newly diagnosed type 2 diabetes and 206 patients with glutamic acid decarboxylase antibody (GADA) -positive diabetes.

Results

In total we identified 86 rare (minor allele frequency < 0.1%) missense variants. None was considered causal for the presence of MODY. Among patients with type 2 diabetes, we observed a higher prevalence of rare GLIS3 missense variants (2.5%) comp

SUBMITTER: Sun J 

PROVIDER: S-EPMC6695102 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature