{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T19:52:14Z","timestamp":1789674734338,"version":"4.0.1"},"reference-count":38,"publisher":"BMJ","issue":"6","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["Br J Ophthalmol"],"accepted":{"date-parts":[[2024,12,1]]},"published-print":{"date-parts":[[2025,6]]},"abstract":"<jats:sec><jats:title>Background\/aims<\/jats:title><jats:p>The purpose of this study is to define genetic factors associated with anterior uveitis through genome-wide association study (GWAS).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>In this GWAS meta-analysis, we combined data from the FinnGen, Estonian Biobank and UK Biobank with a total of 12 205 anterior uveitis cases and 917 145 controls. We performed a phenome-wide association study (PheWAS) to investigate associations across phenotypes and traits. We also evaluated genetic correlations of anterior uveitis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We identified six anterior uveitis-associated loci. Genome-wide significant (p&lt;5 \u00d7 10<jats:sup>\u22128<\/jats:sup>) associations were identified for the first time at three loci (innate immunity activator (<jats:italic>INAVA)<\/jats:italic>, nucleotide-binding domain, leucine-rich repeat family, pyrin domain containing 3 and nitric oxide synthase 2). We detected associations at three loci previously reported to be associated with uveitis (endoplasmic reticulum aminopeptidase 1 (<jats:italic>ERAP1)<\/jats:italic>, the trinucleotide repeat containing 18 (<jats:italic>TNRC18)<\/jats:italic>and the<jats:italic>HLA<\/jats:italic>region) and also replicated associations at two loci previously associated with acute anterior uveitis (<jats:italic>IL23R<\/jats:italic>and<jats:italic>HDAC2-AS2<\/jats:italic>). In PheWAS, we further detected that lead single nucleotide polymorphisms (SNPs) at three of the anterior uveitis-associated loci (<jats:italic>ERAP1<\/jats:italic>,<jats:italic>INAVA<\/jats:italic>and<jats:italic>TNRC18<\/jats:italic>) are associated with other immunity-related phenotypes, including ankylosing spondylitis and inflammatory bowel disease. Additionally, we detected a moderate genetic correlation between anterior uveitis and inflammatory bowel disease (<jats:italic>r<jats:sub>g<\/jats:sub><\/jats:italic>=0.39, p=8 \u00d7 10<jats:sup>\u22125<\/jats:sup>).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We identified six anterior uveitis-associated loci, including three novel loci with genome-wide significance. Our findings deepen our understanding of the genetic basis of anterior uveitis and the genetic connections between anterior uveitis and immune-related disorders, providing a foundation for further research and potential therapeutic interventions.<\/jats:p><\/jats:sec>","DOI":"10.1136\/bjo-2024-326037","type":"journal-article","created":{"date-parts":[[2024,12,30]],"date-time":"2024-12-30T17:45:23Z","timestamp":1735580723000},"page":"660-667","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":4,"title":["Genome-wide association study of anterior uveitis"],"prefix":"10.1136","volume":"109","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7171-3217","authenticated-orcid":false,"given":"Fredrika","family":"Koskim\u00e4ki","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oona","family":"Ahokas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Risto","family":"Kajanne","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Krista-Roberta","family":"Saviauk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdelrahman","family":"Elnahas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anu","family":"Reigo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kadri","family":"Reis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T\u00f5nu","family":"Esko","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Priit","family":"Palta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sanna","family":"Leinonen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johannes","family":"Kettunen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johanna","family":"Liinamaa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Minna K","family":"Karjalainen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ville","family":"Saarela","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Estonian Biobank Research Team Consortium, FinnGen Consortium","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2024,12,27]]},"reference":[{"key":"2025053005152080000_109.6.660.1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajo.2005.03.057"},{"key":"2025053005152080000_109.6.660.2","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9394(14)78239-X"},{"key":"2025053005152080000_109.6.660.3","doi-asserted-by":"publisher","DOI":"10.1111\/aos.14130"},{"key":"2025053005152080000_109.6.660.4","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(73)91090-8"},{"key":"2025053005152080000_109.6.660.5","doi-asserted-by":"publisher","DOI":"10.2174\/1566524018666180207154938"},{"key":"2025053005152080000_109.6.660.6","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.15-16896"},{"key":"2025053005152080000_109.6.660.7","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9394(98)00100-7"},{"key":"2025053005152080000_109.6.660.8","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0062244","article-title":"Association between polymorphism of the vitamin D metabolism gene CYP27B1 and HLA-B27-associated uveitis. 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