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Oulu, Finland – January 31, 2025

An international research team, spearheaded by the University of Oulu and Oulu University Hospital, has uncovered significant genetic factors that contribute to the inflammation of the iris, a condition known as anterior uveitis. The findings, published in the British Journal of Ophthalmology, provide new insights into the genetic underpinnings of this eye disease and its connection to common autoimmune disorders.

Anterior uveitis, an intraocular inflammation affecting the eye’s iris, is a serious condition that can lead to vision impairment if left untreated. Annually, about 600 individuals in Finland are diagnosed with the condition, which most commonly affects people aged 20 to 50. While the disease is known to have ties to several autoimmune disorders, the specific genetic factors that contribute to its development have remained poorly understood until now.

The research, which involved biobank data from Finland, Estonia, and the United Kingdom, compared the genetic profiles of over 12,000 individuals with anterior uveitis to nearly 1 million controls. This extensive study identified six genetic regions associated with the condition, with three of them being novel discoveries not previously linked to anterior uveitis.

One particularly intriguing result from the study is the identification of a genetic correlation between anterior uveitis and inflammatory bowel diseases (IBD), which include conditions such as ulcerative colitis, Crohn’s disease, and microscopic colitis. With over 56,000 individuals in Finland living with IBD, the study suggests that individuals with a genetic predisposition to one of these inflammatory conditions may also be at increased risk of developing anterior uveitis.

Moreover, all six genetic regions identified in the study are involved in immune system processes, highlighting the immune system’s role in the development of anterior uveitis. This finding may open new avenues for understanding how autoimmune diseases influence the eyes and for developing more effective treatments for those affected.

“For the first time, we were able to demonstrate that certain genetic regions are linked to anterior uveitis. This research enhances our understanding of the biological mechanisms contributing to the disease and its connection to other autoimmune conditions. Our hope is that these findings will eventually lead to better treatment options for people living with anterior uveitis,” said Fredrika Koskimäki, lead researcher from the University of Oulu.

The study marks a major advancement in the field of ophthalmology and autoimmune disease research. By shedding light on the genetic factors that contribute to anterior uveitis, the findings not only improve our understanding of this eye condition but also hold promise for improving diagnosis and treatment in the future.

For more information, please refer to: Fredrika Koskimäki et al, “Genome-wide association study of anterior uveitis,” British Journal of Ophthalmology (2024). DOI: 10.1136/bjo-2024-326037.

Disclaimer: This article is based on the findings of the study “Genome-wide association study of anterior uveitis” as published in the British Journal of Ophthalmology. The information provided is intended for general informational purposes and should not be considered as medical advice. Please consult a healthcare professional for diagnosis and treatment options.

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