Genome-wide association study of the age of onset of type 1 diabetes reveals HTATIP2 as a novel T cell regulator.

ABSTRACT:

Introduction

Type 1 diabetes, a disorder caused by autoimmune destruction of pancreatic insulin-producing cells, is more difficult to manage when it presents at a younger age. We sought to identify genetic correlates of the age of onset by conducting the first genome-wide association study (GWAS) treating the age of first diagnosis as a quantitative trait.

Methods

We performed GWAS with a discovery cohort of 4,014 cases and a replication cohort of 493 independent cases. Genome-wide significant SNPs were mapped to a causal variant by Bayesian conditional analysis and gel shift assay. The causal protein-coding gene was identified and characterized by RNA interference treatment of primary human pan-CD4+ T cells with RNA-seq of the transcriptome. The candidate gene was evaluated

SUBMITTER: Cardinale CJ 

PROVIDER: S-EPMC9930890 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature