Phenotypic and genetic characteristics of retinal vascular parameters and their association with diseases

Sofía Ortín Vela (), Michael J. Beyeler (), Olga Trofimova, Ilaria Iuliani, Jose D. Vargas Quiros, Victor A. Vries, Ilenia Meloni, Adham Elwakil, Florence Hoogewoud, Bart Liefers, David Presby, Wishal D. Ramdas, Mattia Tomasoni, Reinier Schlingemann, Caroline C. W. Klaver and Sven Bergmann ()
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Sofía Ortín Vela: University of Lausanne
Michael J. Beyeler: University of Lausanne
Olga Trofimova: University of Lausanne
Ilaria Iuliani: University of Lausanne
Jose D. Vargas Quiros: Erasmus MC University Medical Center
Victor A. Vries: Erasmus MC University Medical Center
Ilenia Meloni: Jules Gonin Eye Hospital
Adham Elwakil: Jules Gonin Eye Hospital
Florence Hoogewoud: Jules Gonin Eye Hospital
Bart Liefers: Erasmus MC University Medical Center
David Presby: University of Lausanne
Wishal D. Ramdas: Erasmus MC University Medical Center
Mattia Tomasoni: Jules Gonin Eye Hospital
Reinier Schlingemann: Jules Gonin Eye Hospital
Caroline C. W. Klaver: Erasmus MC University Medical Center
Sven Bergmann: University of Lausanne

Nature Communications, 2024, vol. 15, issue 1, 1-17

Abstract: Abstract Fundus images allow for non-invasive assessment of the retinal vasculature whose features provide important information on health. Using a fully automated image processing pipeline, we extract 17 different morphological vascular phenotypes, including median vessels diameter, diameter variability, main temporal angles, vascular density, central retinal equivalents, the number of bifurcations, and tortuosity, from over 130,000 fundus images of close to 72,000 UK Biobank subjects. We perform genome-wide association studies of these phenotypes. From this, we estimate their heritabilities, ranging between 5 and 25%, and genetic cross-phenotype correlations, which mostly mirror the corresponding phenotypic correlations, but tend to be slightly larger. Projecting our genetic association signals onto genes and pathways reveals remarkably low overlap suggesting largely decoupled mechanisms modulating the different phenotypes. We find that diameter variability, especially for the veins, associates with diseases including heart attack, pulmonary embolism, and age of death. Mendelian Randomization analysis suggests a causal influence of blood pressure and body mass index on retinal vessel morphology, among other results. We validate key findings in two independent smaller cohorts. Our analyses provide evidence that large-scale analysis of image-derived vascular phenotypes has sufficient power for obtaining functional and causal insights into the processes modulating the retinal vasculature.

Date: 2024
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DOI: 10.1038/s41467-024-52334-1

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