{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T01:12:49Z","timestamp":1789521169587,"version":"build-2803163510"},"reference-count":25,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2015,1,28]],"date-time":"2015-01-28T00:00:00Z","timestamp":1422403200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genetic Epidemiology"],"published-print":{"date-parts":[[2015,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Primary open\u2010angle glaucoma is the most common optic neuropathy and an important cause of irreversible blindness worldwide. The optic nerve head or optic disc is divided in two parts: a central cup (without nerve fibers) surrounded by the neuroretinal rim (containing axons of the retinal ganglion cells). The International Glaucoma Genetics Consortium conducted a meta\u2010analysis of genome\u2010wide association studies consisting of 17,248 individuals of European ancestry and 6,841 individuals of Asian ancestry. The outcomes of the genome\u2010wide association studies were disc area and cup area. These specific measurements describe optic nerve morphology in another way than the vertical cup\u2010disc ratio, which is a clinically used measurement, and may shed light on new glaucoma mechanisms. We identified 10 new loci associated with disc area (<jats:italic>CDC42BPA<\/jats:italic>, <jats:italic>F5<\/jats:italic>, <jats:italic>DIRC3<\/jats:italic>, <jats:italic>RARB<\/jats:italic>, <jats:italic>ABI3BP<\/jats:italic>, <jats:italic>DCAF4L2<\/jats:italic>, <jats:italic>ELP4<\/jats:italic>, <jats:italic>TMTC2<\/jats:italic>, <jats:italic>NR2F2<\/jats:italic>, and <jats:italic>HORMAD2<\/jats:italic>) and another 10 new loci associated with cup area (<jats:italic>DHRS3<\/jats:italic>, <jats:italic>TRIB2<\/jats:italic>, <jats:italic>EFEMP1<\/jats:italic>, <jats:italic>FLNB<\/jats:italic>, <jats:italic>FAM101<\/jats:italic>, <jats:italic>DDHD1<\/jats:italic>, <jats:italic>ASB7<\/jats:italic>, <jats:italic>KPNB1<\/jats:italic>, <jats:italic>BCAS3<\/jats:italic>, and <jats:italic>TRIOBP<\/jats:italic>). The new genes participate in a number of pathways and future work is likely to identify more functions related to the pathogenesis of glaucoma.<\/jats:p>","DOI":"10.1002\/gepi.21886","type":"journal-article","created":{"date-parts":[[2015,1,28]],"date-time":"2015-01-28T23:12:11Z","timestamp":1422486731000},"page":"207-216","source":"Crossref","is-referenced-by-count":82,"title":["Meta\u2010analysis of Genome\u2010Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology"],"prefix":"10.1002","volume":"39","author":[{"given":"Henri\u00ebt","family":"Springelkamp","sequence":"first","affiliation":[{"name":"Department of Epidemiology Erasmus Medical Center  Rotterdam the Netherlands"},{"name":"Department of Ophthalmology Erasmus Medical Center  Rotterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aniket","family":"Mishra","sequence":"additional","affiliation":[{"name":"Statistical Genetics QIMR Berghofer Medical Research Institute, Royal Brisbane Hospital  Brisbane Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pirro G.","family":"Hysi","sequence":"additional","affiliation":[{"name":"Department of Twin Research and Genetic Epidemiology King's College London  London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Puya","family":"Gharahkhani","sequence":"additional","affiliation":[{"name":"Statistical Genetics QIMR Berghofer Medical Research Institute, Royal Brisbane Hospital  Brisbane Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ren\u00e9","family":"H\u00f6hn","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology University Medical Center Mainz  Mainz Germany"},{"name":"Klinik Pallas Olten  Olten Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiea\u2010Chuen","family":"Khor","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology National 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Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eranga","family":"Vithana","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology National University of Singapore and National University Health System  Singapore Singapore"},{"name":"Duke\u2010National University of Singapore Graduate Medical School  Singapore Singapore"},{"name":"Singapore Eye Research Institute Singapore National Eye Centre  Singapore Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victor","family":"Koh","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology National University of Singapore and National University Health System  Singapore Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seyhan","family":"Yazar","sequence":"additional","affiliation":[{"name":"Centre for Ophthalmology and Visual Science Lions Eye Institute, University of Western Australia  Perth 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