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Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries.
Gharahkhani, Puya; Jorgenson, Eric; Hysi, Pirro; Khawaja, Anthony P; Pendergrass, Sarah; Han, Xikun; Ong, Jue Sheng; Hewitt, Alex W; Segrè, Ayellet V; Rouhana, John M; Hamel, Andrew R; Igo, Robert P; Choquet, Helene; Qassim, Ayub; Josyula, Navya S; Cooke Bailey, Jessica N; Bonnemaijer, Pieter W M; Iglesias, Adriana; Siggs, Owen M; Young, Terri L; Vitart, Veronique; Thiadens, Alberta A H J; Karjalainen, Juha; Uebe, Steffen; Melles, Ronald B; Nair, K Saidas; Luben, Robert; Simcoe, Mark; Amersinghe, Nishani; Cree, Angela J; Hohn, Rene; Poplawski, Alicia; Chen, Li Jia; Rong, Shi-Song; Aung, Tin; Vithana, Eranga Nishanthie; Tamiya, Gen; Shiga, Yukihiro; Yamamoto, Masayuki; Nakazawa, Toru; Currant, Hannah; Birney, Ewan; Wang, Xin; Auton, Adam; Lupton, Michelle K; Martin, Nicholas G; Ashaye, Adeyinka; Olawoye, Olusola; Williams, Susan E; Akafo, Stephen.
Afiliación
  • Gharahkhani P; QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia. Puya.Gharahkhani@qimrberghofer.edu.au.
  • Jorgenson E; Division of Research, Kaiser Permanente Northern California (KPNC), Oakland, CA, USA.
  • Hysi P; Twin Research and Genetic Epidemiology, King's College London, London, UK.
  • Khawaja AP; NIHR Biomedical Research Centre, Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, London, UK.
  • Pendergrass S; Department of Public Health and Primary Care, Institute of Public Health, University of Cambridge School of Clinical Medicine, Cambridge, UK.
  • Han X; Geisinger Research, Biomedical and Translational Informatics Institute, Danville, PA, USA.
  • Ong JS; QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
  • Hewitt AW; QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
  • Segrè AV; Menzies Institute for Medical Research, University of Tasmania, Hobart, TAS, Australia.
  • Rouhana JM; Centre for Eye Research Australia, University of Melbourne, Melbourne, VIC, Australia.
  • Hamel AR; Department of Ophthalmology, Harvard Medical School, Boston, MA, USA.
  • Igo RP; Department of Ophthalmology, Harvard Medical School, Boston, MA, USA.
  • Choquet H; Department of Ophthalmology, Harvard Medical School, Boston, MA, USA.
  • Qassim A; Department of Population and Quantitative Health Sciences, Case Western Reserve University School of Medicine, Cleveland, OH, USA.
  • Josyula NS; Division of Research, Kaiser Permanente Northern California (KPNC), Oakland, CA, USA.
  • Cooke Bailey JN; Department of Ophthalmology, Flinders University, Bedford Park, SA, Australia.
  • Bonnemaijer PWM; Geisinger Research, Biomedical and Translational Informatics Institute, Rockville, MD, USA.
  • Iglesias A; Department of Population and Quantitative Health Sciences, Case Western Reserve University School of Medicine, Cleveland, OH, USA.
  • Siggs OM; Cleveland Institute for Computational Biology, Case Western Reserve University School of Medicine, Cleveland, OH, USA.
  • Young TL; Depatment of Ophthalmology, Erasmus MC, Rotterdam, The Netherlands.
  • Vitart V; Department of Epidemiology, Erasmus MC, Rotterdam, The Netherlands.
  • Thiadens AAHJ; The Rotterdam Eye Hospital, Rotterdam, The Netherlands.
  • Karjalainen J; Depatment of Ophthalmology, Erasmus MC, Rotterdam, The Netherlands.
  • Uebe S; Department of Epidemiology, Erasmus MC, Rotterdam, The Netherlands.
  • Melles RB; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.
  • Nair KS; Department of Ophthalmology, Flinders University, Bedford Park, SA, Australia.
  • Luben R; Department of Ophthalmology and Visual Sciences, University of Wisconsin-Madison, Madison, WI, USA.
  • Simcoe M; Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.
  • Amersinghe N; Depatment of Ophthalmology, Erasmus MC, Rotterdam, The Netherlands.
  • Cree AJ; Department of Epidemiology, Erasmus MC, Rotterdam, The Netherlands.
  • Hohn R; Institute for Molecular Medicine Finland, HiLIFE, University of Helsinki, Helsinki, Finland.
  • Poplawski A; Broad Institute of the Massachusetts Institute of Technology and Harvard University, Cambridge, MA, USA.
  • Chen LJ; Analytic and Translational Genetics Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
  • Rong SS; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität, Erlangen-Nürnberg, Erlangen, Germany.
  • Aung T; Department of Ophthalmology, KPNC, Redwood City, CA, USA.
  • Vithana EN; Department of Ophthalmology, School of Medicine, University of California San Francisco (UCSF), San Francisco, CA, USA.
  • Tamiya G; Department of Ophthalmology, University Medical Center Mainz, Mainz, Germany.
  • Shiga Y; Institute of Medical Biostatistics, Epidemiology and Informatics, University Medical Center Mainz, Mainz, Germany.
  • Yamamoto M; Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong, China.
  • Nakazawa T; Department of Ophthalmology, Harvard Medical School, Boston, MA, USA.
  • Currant H; Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong, China.
  • Birney E; Singapore Eye Research Institute, Singapore National Eye Certre, Singapore, Singapore.
  • Wang X; Ophthalmology & Visual Sciences Academic Clinical Program, Duke-NUS Medical School, Singapore, Singapore.
  • Auton A; Department of Ophthalmology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.
  • Lupton MK; Singapore Eye Research Institute, Singapore National Eye Certre, Singapore, Singapore.
  • Martin NG; Duke-National University of Singapore Medical School, Singapore, Republic of Singapore.
Nat Commun ; 12(1): 1258, 2021 02 24.
Article en En | MEDLINE | ID: mdl-33627673
ABSTRACT
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.
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Glaucoma de Ángulo Abierto / Estudio de Asociación del Genoma Completo Tipo de estudio: Systematic_reviews Límite: Humans Idioma: En Revista: Nat Commun Asunto de la revista: BIOLOGIA / CIENCIA Año: 2021 Tipo del documento: Article País de afiliación: Australia
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Glaucoma de Ángulo Abierto / Estudio de Asociación del Genoma Completo Tipo de estudio: Systematic_reviews Límite: Humans Idioma: En Revista: Nat Commun Asunto de la revista: BIOLOGIA / CIENCIA Año: 2021 Tipo del documento: Article País de afiliación: Australia