Photo Credit: Henadzi Pechan
The following is a summary of “Genome-wide association study of anterior uveitis,” published in the December 2024 issue of Ophthalmology by Koskimäki et al.
Researchers conducted a retrospective study to identify genetic factors associated with anterior uveitis through a genome-wide association study (GWAS).
They performed a GWAS meta-analysis by combining data from the FinnGen, Estonian Biobank, and UK Biobank, including 12,205 anterior uveitis cases and 917,145 controls. A phenome-wide association study (PheWAS) was conducted to explore associations across various phenotypes and traits. Additionally, the genetic correlations of anterior uveitis were also assessed.
The results showed 6 loci associated with anterior uveitis, 3 novel loci (innate immunity activator (INAVA), nucleotide-binding domain, leucine-rich repeat family, pyrin domain containing 3, and nitric oxide synthase 2 were found to have genome-wide significant associations (P <5 × 10-8). Previously known loci (endoplasmic reticulum aminopeptidase 1 (ERAP1), trinucleotide repeat containing 18 (TNRC18), and the HLA region) were also associated, along with replication of associations at 2 loci linked to acute anterior uveitis (IL23R and HDAC2-AS2). The PheWAS revealed that lead single nucleotide polymorphisms (SNPs) at ERAP1, INAVA, and TNRC18 were linked to other immunity-related conditions like ankylosing spondylitis and inflammatory bowel disease. A moderate genetic linkage was identified between anterior uveitis and inflammatory bowel disease (rg =0.39, P =8 × 10-5).
Investigators concluded 6 loci linked with anterior uveitis were discovered, including 3 novel loci with genome-wide significance, enhancing understanding of its genetic basis and connections to immune-related disorders, and providing a basis for future research and therapeutic interventions.
Source: bjo.bmj.com/content/early/2024/12/26/bjo-2024-326037
