A recent study from St George’s and other institutions has found that the shape and size of blood vessels in the eye may provide important clues about a person’s risk for high blood pressure and heart disease. Scientists identified 119 genetic regions that influence how these blood vessels form, with a particular focus on the twisting patterns of arteries.
The back of the eye, known as the retina, has a network of blood vessels that are easy to observe using high-resolution digital imaging. This allows researchers and doctors to study the health of these tiny vessels, which can reflect the condition of blood vessels throughout the body.
Previous studies have shown that the structure of retinal blood vessels is linked to conditions such as high blood pressure, heart disease, diabetes, and obesity. However, until now, little was known about the role of genetics in shaping these vessels.
To explore this, researchers analyzed retinal images from nearly 53,000 people enrolled in the UK Biobank, a large health study. They used artificial intelligence (AI) to automatically measure the width and twisting patterns of arteries and veins in the eye.
By comparing this data with genetic information from 52,798 participants, they performed a genome-wide association study (GWAS) to find common genetic patterns linked to blood vessel characteristics.
The study identified 119 genetic regions associated with the size and shape of retinal blood vessels—more than any previous research. Among these, 89 regions were specifically linked to how much the arteries twisted and turned.
This twisting pattern was found to be strongly influenced by genetics. More importantly, a greater degree of twisting was also linked to higher diastolic blood pressure (the pressure in the arteries when the heart is resting between beats) and an increased risk of heart disease.
These findings suggest that examining the blood vessels in the eye could help identify people at risk for heart disease earlier. Since the eye provides a unique “window” into the body’s vascular system, retinal imaging combined with genetic data may become a valuable tool for understanding and preventing heart-related conditions.
Researchers believe this discovery could lead to new treatments in the future. By understanding the genetic factors that shape blood vessels, scientists may be able to develop targeted therapies to reduce heart disease risk.
The study, led by Professor Christopher Owen, was published in PLOS Genetics.
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