Exome-Wide Analysis Identifies a Rare <i>EXD3</i> Missense Variant Associated With Diabetic Kidney Disease.

ABSTRACT:

Introduction

Diabetic kidney disease (DKD) is a major complication of diabetes, with genetic factors contributing to its progression. Although genome-wide association studies (GWAS) have identified common variants, the role of low-frequency and rare coding variants remains underexplored.

Methods

We performed exome-wide meta-analysis of up to 10,312 individuals with type 1 diabetes (T1D) genotyped using genome arrays with focused exome content. We included 10 DKD definitions based on albuminuria, estimated glomerular filtration rate (eGFR), or both. We analyzed nonsynonymous variants individually and used gene-level analyses for low-frequency (minor allele frequency [MAF] < 5%) and rare (< 1%) variants. Replication was performed in 10,066 participants with T1D and in UK Bioba

SUBMITTER: Sandholm N 

PROVIDER: S-EPMC12799576 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature