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1 General aspects (0)   1.1 Epidemiology (10)   1.2 Population genetics (1)   1.3 Pathogenesis (9)   1.4 Quality of life (20)   1.5 Glaucomas as cause of blindness (11)   1.6 Prevention and screening (14) 2 Anatomical structures in glaucoma (0)   2.1 Conjunctiva (8)   2.2 Cornea (39)   2.3 Sclera (17)   2.4 Anterior chamber angle (13)   2.5 Meshwork (0)     2.5.1 Trabecular meshwork (16)     2.5.2 Schlemms canal (13)     2.5.3 Scleral outlet channels (2)   2.6 Aqueous humor dynamics (0)     2.6.1 Production (1)     2.6.2 Outflow (1)       2.6.2.1 Trabecular meshwork (7)       2.6.2.2 Uveoscleral (1)     2.6.3 Compostion (7)   2.7 Episcleral veins and venous pressure (0)   2.8 Iris (8)   2.9 Ciliary body (2)   2.10 Lens (2)   2.11 Vitreous body (1)   2.12 Choroid, peripapillary choroid, peripapillary atrophy (9)   2.13 Retina and retinal nerve fibre layer (69)   2.14 Optic disc (37)   2.15 Optic nerve (3)   2.16 Chiasma and retrochiasmal central nervous system (14)   2.17 Stem cells (8)   2.20 Other (0) 3 Laboratory methods (0)   3.1 Microscopy (1)   3.2 Electron microscopy (2)   3.3 Immunohistochemistry (2)   3.4 Molecular genetics (0)     3.4.1 Linkage studies (1)     3.4.2 Gene studies (60)   3.5 Molecular biology incl. 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Filtering surgery (0)     12.8.1 Without tube implant (17)     12.8.2 With tube implant or other drainage devices (44)     12.8.3 Non-perforating (6)     12.8.4 Using laser (1)     12.8.5 Other (1)     12.8.10 Woundhealing antifibrosis (18)     12.8.11 Complications, endophthalmitis (16)   12.9 Trabeculotomy, goniotomy (18)   12.10 Cyclodestruction (8)   12.11 Cyclodialysis (1)   12.12 Cataract extraction (0)     12.12.1 Intracapsular (0)     12.12.2 Extracapsular (0)     12.12.3 Phacoemulsification (9)   12.14 Combined cataract extraction and glaucoma surgery (0)     12.14.1 Intracapsular (0)     12.14.2 Extracapsular (0)     12.14.3 Phacoemulsification (11)   12.15 Capsulotomy (1)   12.16 Vitrectomy (2)   12.17 Anesthesia (1)   12.20 Other (3) 13 Therapeutic prognosis and outcome (0)   13.1 Prognostic factors (4)   13.2 Outcome (0)     13.2.1 IOP (1)     13.2.2 Visual field (0)       13.2.2.1 Progression (0)       13.2.2.2 Improvement (1)     13.2.3 Other (2) 14 Costing studies; 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Abstract #59028 Published in IGR 16-3

Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma

Hysi PG; Cheng CY; Springelkamp H; Macgregor S; Bailey JN; Wojciechowski R; Vitart V; Nag A; Hewitt AW; Höhn R; Venturini C; Mirshahi A; Ramdas WD; Thorleifsson G; Vithana E; Khor CC; Stefansson AB; Liao J; Haines JL; Amin N; Wang YX; Wild PS; Ozel A
Nature Genetics 2014; 46: 1126-1130

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Elevated intraocular pressure (IOP) is an important risk factor in developing glaucoma, and variability in IOP might herald glaucomatous development or progression. We report the results of a genome-wide association study meta-analysis of 18 population cohorts from the International Glaucoma Genetics Consortium (IGGC), comprising 35,296 multi-ancestry participants for IOP. We confirm genetic association of known loci for IOP and primary open-angle glaucoma (POAG) and identify four new IOP-associated loci located on chromosome 3q25.31 within the FNDC3B gene (P = 4.19 × 10(-8) for rs6445055), two on chromosome 9 (P = 2.80 × 10(-11) for rs2472493 near ABCA1 and P = 6.39 × 10(-11) for rs8176693 within ABO) and one on chromosome 11p11.2 (best P = 1.04 × 10(-11) for rs747782). Separate meta-analyses of 4 independent POAG cohorts, totaling 4,284 cases and 95,560 controls, showed that 3 of these loci for IOP were also associated with POAG.

1] Department of Twin Research and Genetic Epidemiology, King's College London, London, UK. [2].

Full article

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Classification:

3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)
6.1.3 Factors affecting IOP (Part of: 6 Clinical examination methods > 6.1 Intraocular pressure measurement; factors affecting IOP)

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