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1 General aspects (0)   1.1 Epidemiology (13)   1.2 Population genetics (1)   1.3 Pathogenesis (2)   1.4 Quality of life (15)   1.5 Glaucomas as cause of blindness (8)   1.6 Prevention and screening (15) 2 Anatomical structures in glaucoma (0)   2.1 Conjunctiva (7)   2.2 Cornea (26)   2.3 Sclera (8)   2.4 Anterior chamber angle (3)   2.5 Meshwork (0)     2.5.1 Trabecular meshwork (11)     2.5.2 Schlemms canal (1)     2.5.3 Scleral outlet channels (1)   2.6 Aqueous humor dynamics (0)     2.6.1 Production (0)     2.6.2 Outflow (0)       2.6.2.1 Trabecular meshwork (3)       2.6.2.2 Uveoscleral (0)     2.6.3 Compostion (3)   2.7 Episcleral veins and venous pressure (0)   2.8 Iris (2)   2.9 Ciliary body (0)   2.10 Lens (0)   2.11 Vitreous body (0)   2.12 Choroid, peripapillary choroid, peripapillary atrophy (8)   2.13 Retina and retinal nerve fibre layer (36)   2.14 Optic disc (29)   2.15 Optic nerve (0)   2.16 Chiasma and retrochiasmal central nervous system (7)   2.17 Stem cells (3)   2.20 Other (0) 3 Laboratory methods (0)   3.1 Microscopy (1)   3.2 Electron microscopy (0)   3.3 Immunohistochemistry (1)   3.4 Molecular genetics (0)     3.4.1 Linkage studies (0)     3.4.2 Gene studies (22)   3.5 Molecular biology incl. 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Filtering surgery (0)     12.8.1 Without tube implant (29)     12.8.2 With tube implant or other drainage devices (78)     12.8.3 Non-perforating (8)     12.8.4 Using laser (0)     12.8.5 Other (8)     12.8.10 Woundhealing antifibrosis (15)     12.8.11 Complications, endophthalmitis (17)   12.9 Trabeculotomy, goniotomy (27)   12.10 Cyclodestruction (17)   12.11 Cyclodialysis (1)   12.12 Cataract extraction (0)     12.12.1 Intracapsular (0)     12.12.2 Extracapsular (0)     12.12.3 Phacoemulsification (14)   12.14 Combined cataract extraction and glaucoma surgery (0)     12.14.1 Intracapsular (0)     12.14.2 Extracapsular (0)     12.14.3 Phacoemulsification (22)   12.15 Capsulotomy (0)   12.16 Vitrectomy (8)   12.17 Anesthesia (3)   12.20 Other (1) 13 Therapeutic prognosis and outcome (0)   13.1 Prognostic factors (1)   13.2 Outcome (0)     13.2.1 IOP (0)     13.2.2 Visual field (0)       13.2.2.1 Progression (0)       13.2.2.2 Improvement (1)     13.2.3 Other (0) 14 Costing studies; pharmacoeconomics (10) 15 Miscellaneous (32)

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Abstract #92322 Published in IGR 22-1

Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries

Gharahkhani P; Jorgenson E; Hysi P; Khawaja AP; Pendergrass S; Han X; Ong JS; Hewitt AW; Segrè AV; Segrè AV; Rouhana JM; Hamel AR; Igo RP; Choquet H; Qassim A; Josyula NS; Cooke Bailey JN; Bonnemaijer PWM; Iglesias A; Siggs OM; Young TL; Vitart V; Thiadens AAHJ; Karjalainen J; Uebe S; Melles RB; Nair KS; Luben R; Simcoe M; Amersinghe N; Cree AJ; Hohn R; Poplawski A; Chen LJ; Rong SS; Aung T; Vithana EN; ; Tamiya G; Shiga Y; Yamamoto M; Nakazawa T; Currant H; Birney E; Wang X; Auton A; Lupton MK; Martin NG; Ashaye A; Olawoye O; Williams SE; Akafo S; Ramsay M; Hashimoto K; Kamatani Y; Akiyama M; Momozawa Y; Foster PJ; Khaw PT; Morgan JE; Strouthidis NG; Kraft P; Kang JH; Pang CP; Pasutto F; Mitchell P; Lotery AJ; Palotie A; van Duijn C; Haines JL; Hammond C; Pasquale LR; Klaver CCW; Hauser M; Khor CC; Mackey DA; Kubo M; Cheng CY; Craig JE; Macgregor S; Wiggs JL
Nature communications 2021; 12: 1258

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Primary open-angle glaucoma (POAG), is a heritable common cause of blindness world-wide. To identify risk loci, we conduct a large multi-ethnic meta-analysis of genome-wide association studies on a total of 34,179 cases and 349,321 controls, identifying 44 previously unreported risk loci and confirming 83 loci that were previously known. The majority of loci have broadly consistent effects across European, Asian and African ancestries. Cross-ancestry data improve fine-mapping of causal variants for several loci. Integration of multiple lines of genetic evidence support the functional relevance of the identified POAG risk loci and highlight potential contributions of several genes to POAG pathogenesis, including SVEP1, RERE, VCAM1, ZNF638, CLIC5, SLC2A12, YAP1, MXRA5, and SMAD6. Several drug compounds targeting POAG risk genes may be potential glaucoma therapeutic candidates.

QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia. Puya.Gharahkhani@qimrberghofer.edu.au.

Full article

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Classification:

3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)

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