Researchers identify new genes predisposing to inflammation of the iris

An international study led by the University of Oulu and Oulu University Hospital has identified six genetic regions associated with the inflammation of the eye's iris, also known as anterior uveitis. The research also uncovered a genetic correlation between anterior uveitis and inflammatory bowel diseases (IBD). These findings contribute to a better understanding of the mechanisms behind anterior uveitis and its connection to common autoimmune diseases.

Each year, approximately 600 Finns are diagnosed with anterior uveitis. This is an intraocular inflammation that can occur at any age but is most common in individuals aged 20–50. Anterior uveitis is known to be associated with several autoimmune diseases, and certain tissue types may also predispose individuals to it. However, the precise mechanisms underlying the disease remain largely unknown, and the root cause often remains unclear.

The aim of the study was to investigate the genetic background of anterior uveitis, a field in which knowledge has been limited. This extensive international collaboration utilized biobank data from Finland, Estonia, and the United Kingdom, enabling comparisons between over 12,000 patients with anterior uveitis and nearly one million controls.

By analyzing genetic data, researchers identified six genetic regions associated with anterior uveitis, three of which had not been previously linked to the condition.

One intriguing finding was the genetic correlation between anterior uveitis and inflammatory bowel diseases (IBD). IBD includes ulcerative colitis, Crohn’s disease, and microscopic colitis. In Finland, more than 56,000 people live with IBD.

Another significant discovery was that all of the identified genetic regions associated with anterior uveitis had biologically relevant genes involved in immunity.

“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 anterior uveitis and its connection to autoimmune diseases. The findings may also open new perspectives for the development of treatments for anterior uveitis,” says lead researcher Fredrika Koskimäki from the University of Oulu.

The study results were published in the prestigious scientific journal British Journal of Ophthalmology: Koskimäki F, Ahokas O, Kajanne R, et al. Genome-wide association study of anterior uveitis. British Journal of Ophthalmology, published Online First: 27 December 2024.

Last updated: 30.1.2025