机构：[1]Department of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands[2]Department of Ophthalmology, Erasmus Medical Center, Rotterdam, the Netherlands[3]Statistical Genetics, QIMR Berghofer Medical Research Institute, Royal Brisbane Hospital, Brisbane, Australia[4]Department of Twin Research and Genetic Epidemiology, King’s College London, London, United Kingdom[5]Department of Ophthalmology, University Medical Center Mainz, Mainz, Germany[6]Klinik Pallas Olten, Olten, Switzerland[7]Department of Ophthalmology, National University of Singapore and National University Health System, Singapore, Singapore[8]Division of Human Genetics, Genome Institute of Singapore, Singapore, Singapore[9]Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio, United States of America[10]Duke University Eye Center, Durham, North Carolina, United States of America[11]Duke-National University of Singapore, Graduate Medical School, Singapore, Singapore[12]Singapore Eye Research Institute, Singapore National Eye Centre, Singapore, Singapore[13]Centre for Ophthalmology and Visual Science, Lions Eye Institute, University of Western Australia, Perth, Australia[14]Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing, China研究所眼科研究所首都医科大学附属北京同仁医院首都医科大学附属同仁医院[15]Beijing Ophthalmology and Visual Science Key Lab, Beijing, China首都医科大学附属同仁医院[16]Centre for Eye Research Australia (CERA), University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Victoria, Australia[17]Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands[18]Department of Internal Medicine, Erasmus Medical Center, Rotterdam, the Netherlands[19]Netherlands Consortium for Healthy Ageing, Netherlands Genomics Initiative, the Hague, the Netherlands[20]DZHK (German Centre for Cardiovascular Research), partner site Hamburg/Kiel/L ¨ ubeck, L ¨ ubeck, Germany[21]Institute of Medical Biometry and Statistics, University of L ¨ ubeck, L ¨ ubeck, Germany[22]Department of Ophthalmology, Academic Medical Center, Amsterdam, the Netherlands[23]Department of Ophthalmology, Leiden University Medical Center, Leiden, the Netherlands[24]Department of Retinal Signal Processing, Netherlands Institute for Neuroscience, Amsterdam, the Netherlands[25]Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands[26]Department of Ophthalmology, Flinders University, Adelaide, Australia[27]School of Medicine, Menzies Research Institute Tasmania, University of Tasmania, Hobart, Australia[28]Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore, Singapore[29]Department of Statistics and Applied Probability, National University of Singapore, Singapore, Singapore[30]Channing Division of Network Medicine, Brigham and Women’s Hospital, Boston, Massachusetts, United States of America[31]Department of Ophthalmology, Harvard Medical School and Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, United States of America[32]Glaucoma Service, The Rotterdam Eye Hospital, Rotterdam, the Netherlands[33]Department of Medicine, National University of Singapore and National University Health System, Singapore, Singapore[34]Department of Ophthalmology, Medical Faculty Mannheim of the Ruprecht-Karls-University of Heidelberg, Heidelberg, Germany[35]Department of Ophthalmology, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands
Primary open-angle 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-analysis of genome-wide association studies consisting of 17,248 individuals of European ancestry and 6,841 individuals of Asian ancestry. The outcomes of the genome-wide association studies were disc area and cup area. These specific measurements describe optic nerve morphology in another way than the vertical cup-disc ratio, which is a clinically used measurement, and may shed light on new glaucoma mechanisms. We identified 10 new loci associated with disc area (CDC42BPA, F5, DIRC3, RARB, ABI3BP, DCAF4L2, ELP4, TMTC2, NR2F2, and HORMAD2) and another 10 new loci associated with cup area (DHRS3, TRIB2, EFEMP1, FLNB, FAM101, DDHD1, ASB7, KPNB1, BCAS3, and TRIOBP). The new genes participate in a number of pathways and future work is likely to identify more functions related to the pathogenesis of glaucoma.
基金：
National Institute for Health ResearchNational Institute for Health Research (NIHR) [NF-SI-0514-10027, SRF/01/010] Funding Source: researchfish; Fight for Sight [1895/96, 1329/30] Funding Source: researchfish; NATIONAL EYE INSTITUTEUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Eye Institute (NEI) [R01EY011405, R01EY023754, R01EY015473, R01EY013178, R01EY022306, P30EY014104, R01EY022305, R01EY004859] Funding Source: NIH RePORTER; Department of HealthEuropean Commission [SRF/01/010] Funding Source: Medline; NEI NIH HHSUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Eye Institute (NEI) [R01 EY004859, R01 EY013178, R01 EY022305, R01 EY022306, R01 EY023754, R01 EY015473, P30 EY014104] Funding Source: Medline
第一作者机构：[1]Department of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands[2]Department of Ophthalmology, Erasmus Medical Center, Rotterdam, the Netherlands
共同第一作者：
通讯作者：
通讯机构：[1]Department of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands[*1]Erasmus Medisch Centrum, Cornelia van Duijn room NA-2714, Postbus 2040, 3000 CA Rotterdam, the Netherlands.
推荐引用方式(GB/T 7714)：
Springelkamp Henriet,Mishra Aniket,Hysi Pirro G.,et al.Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology[J].GENETIC EPIDEMIOLOGY.2015,39(3):207-216.doi:10.1002/gepi.21886.
APA：
Springelkamp, Henriet,Mishra, Aniket,Hysi, Pirro G.,Gharahkhani, Puya,Hoehn, Rene...&Hammond, Christopher J..(2015).Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.GENETIC EPIDEMIOLOGY,39,(3)
MLA：
Springelkamp, Henriet,et al."Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology".GENETIC EPIDEMIOLOGY 39..3(2015):207-216
