Exome and Genome Sequencing Reveals Novel Variants for Severe Diabetic Retinopathy in Type 1 Diabetes.

ABSTRACT:

Purpose

Diabetic retinopathy affects a substantial proportion of individuals with diabetes and, if not treated, may lead to acquired visual impairment or even blindness. An improved comprehension of the genetics of diabetic retinopathy (DR) is crucial in understanding the disease mechanisms. We aimed to identify rare and low-frequency variants predisposing to severe DR (SDR) in type 1 diabetes.

Methods

Whole exome sequencing (WES) and whole genome sequencing (WGS) were performed for SDR in 1071 individuals with type 1 diabetes from the FinnDiane study (WES n = 490, WGS n = 581), altogether 800 with and 271 without SDR. We analyzed the genome using single variant, gene aggregate, sliding window, and regulatory regions analyses. Replication was sought in the FinnDiane genome-w

SUBMITTER: Vuori N 

PROVIDER: S-EPMC12553471 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature