Genome-wide Association Studies of Retinal Vessel Tortuosity Identify Numerous Novel Loci Revealing Genes and Pathways Associated With Ocular and Cardiometabolic Diseases.

ABSTRACT:

Purpose

To identify novel susceptibility loci for retinal vascular tortuosity, to better understand the molecular mechanisms modulating this trait, and reveal causal relationships with diseases and their risk factors.

Design

Genome-wide Association Studies (GWAS) of vascular tortuosity of retinal arteries and veins followed by replication meta-analysis and Mendelian randomization (MR).

Participants

We analyzed 116 639 fundus images of suitable quality from 63 662 participants from 3 cohorts, namely the UK Biobank (n = 62 751), the Swiss Kidney Project on Genes in Hypertension (n = 397), and OphtalmoLaus (n = 512).

Methods

Using a fully automated retina image processing pipeline to annotate vessels and a deep learning algorithm to determine the ves

SUBMITTER: Tomasoni M 

PROVIDER: S-EPMC10149284 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature