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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
general
Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries
Nature Communications, Volume 12, No. 1, Article 1258, Year 2021
Notification
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Description
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. © 2021, The Author(s).
Available Materials
https://efashare.b-cdn.net/share/pmc/articles/PMC7904932/bin/41467_2020_20851_MOESM1_ESM.pdf
https://efashare.b-cdn.net/share/pmc/articles/PMC7904932/bin/41467_2020_20851_MOESM2_ESM.pdf
https://efashare.b-cdn.net/share/pmc/articles/PMC7904932/bin/41467_2020_20851_MOESM3_ESM.pdf
https://efashare.b-cdn.net/share/pmc/articles/PMC7904932/bin/41467_2020_20851_MOESM4_ESM.xlsx
https://efashare.b-cdn.net/share/pmc/articles/PMC7904932/bin/41467_2020_20851_MOESM5_ESM.pdf
Authors & Co-Authors
Gharahkhani, Puya
Australia, Brisbane
Qimr Berghofer Medical Research Institute
Jorgenson, Eric M.
United States, Oakland
Kaiser Permanente
Hysi, Dr Pirro
United Kingdom, London
King's College London
Pendergrass, Sarah A.
Unknown Affiliation
Han, Xikun
Australia, Brisbane
Qimr Berghofer Medical Research Institute
Ong, Jue Sheng
Australia, Brisbane
Qimr Berghofer Medical Research Institute
Hewitt, A. W.
Australia, Hobart
University of Tasmania
Australia, Melbourne
Centre for Eye Research Australia
Segrè, Ayellet V.
United States, Boston
Harvard Medical School
Igo, Robert P.
United States, Cleveland
Case School of Medicine
Josyula, Navya Shilpa
Unknown Affiliation
Cooke-Bailey, Jessica N.
United States, Cleveland
Case School of Medicine
Bonnemaijer, Pieter W.M.
Netherlands, Rotterdam
Erasmus Mc
Netherlands, Rotterdam
Rotterdam Eye Hospital
Iglesias, Adriana I.
Netherlands, Rotterdam
Erasmus Mc
Siggs, Owen Marc
Australia, Adelaide
Flinders University
Vitart, Véronique
United Kingdom, Edinburgh
The University of Edinburgh
Thiadens, Alberta A.H.J.
Netherlands, Rotterdam
Erasmus Mc
Uebe, Steffen
Germany, Erlangen
Friedrich-alexander-universität Erlangen-nürnberg
Nair, K. Saidas
United States, San Francisco
University of California, San Francisco
Luben, Robert N.
United Kingdom, Cambridge
School of Clinical Medicine
Simcoe, Mark J.
United Kingdom, London
King's College London
United Kingdom, London
University College London
Chen, Lijia
Hong Kong, Hong Kong
Chinese University of Hong Kong
Aung, Tin
Singapore, Singapore City
Singapore Eye Research Institute
Singapore, Singapore City
Duke-nus Medical School
Singapore, Singapore City
National University of Singapore
Vithana, Eranga N.
Singapore, Singapore City
Singapore Eye Research Institute
Singapore, Singapore City
Duke-nus Medical School
Allingham, Robert Rand
United States, Durham
Duke University Medical Center
Brilliant, Murray H.
United States, Marshfield
Marshfield Clinic
Budenz, Donald L.
United States, Chapel Hill
The University of North Carolina at Chapel Hill
Fingert, John H.
United States, Iowa City
University of Iowa
Gaasterland, Douglas E.
United States, Chevy Chase
Eye Doctors of Washington
Gaasterland, Terry M.
United States, La Jolla
University of California, San Diego
Haines, Jonathan L.
United States, Cleveland
Case School of Medicine
Hauser, Michael Arthur
United States, Durham
Duke University
Singapore, Singapore City
Singapore Eye Research Institute
Lee, Richard K.
United States, Miami
University of Miami Leonard M. Miller School of Medicine
Liu, Yutao
United States, Augusta
Augusta University
Moroi, Sayoko E.
United States, Ann Arbor
University of Michigan, Ann Arbor
Myers, Jonathan S.
United States, Philadelphia
Wills Eye Hospital
Kunkle, Brian W.
United States, Miami
University of Miami Leonard M. Miller School of Medicine
Realini, Anthony T.
Unknown Affiliation
Richards, Julia E.
United States, Ann Arbor
University of Michigan, Ann Arbor
Schuman, Joel S.
United States, New York
Nyu Grossman School of Medicine
Scott, William K.
United States, Miami
University of Miami Leonard M. Miller School of Medicine
Singh, Kuldev
United States, Stanford
Stanford University School of Medicine
Sit, Arthur J.
United States, Rochester
Mayo Clinic
Vollrath, Douglas
United States, Stanford
Stanford University School of Medicine
Weinreb, Robert N.
United States, La Jolla
University of California, San Diego
Wollstein, Gadi
United States, New York
Nyu Grossman School of Medicine
Zack, Donald J.
United States, Baltimore
Johns Hopkins University
Mills, Richard A.D.
Australia, Adelaide
Flinders Medical Centre
Craig, Jamie Evan
Australia, Adelaide
Flinders Medical Centre
Burdon, Kathryn P.
Australia, Hobart
University of Tasmania
Casson, Robert James
Australia, Adelaide
The University of Adelaide
White, Andrew J.R.
Australia, Parramatta
The Westmead Institute for Medical Research
Mackey, David A.
Australia, Perth
The University of Western Australia
Daida, Hiroyuki
Japan, Tokyo
Juntendo University
Miyauchi, Katsumi
Japan, Tokyo
Juntendo University
Murakami, Akira
Japan, Tokyo
Juntendo University
Moriyáma, Mitsuhiko
Japan, Tokyo
Nihon University
Koretsune, Yukihiro
Japan, Tokyo
National Hospital Organization, Japan
Hirata, Makoto
Japan, Tokyo
The University of Tokyo
Kamatani, Yoichiro
Japan, Yokohama
Riken Center for Integrative Medical Sciences
Matsuda, Koichi
Japan, Tokyo
The University of Tokyo
Ninomiya, Toshiharu
Japan, Fukuoka
Kyushu University
Tamakoshi., Akiko
Japan, Sapporo
Graduate School of Medicine
Mushiroda, Taisei
Japan, Yokohama
Riken Center for Integrative Medical Sciences
Murakami, Yoshinori S.
Japan, Tokyo
The University of Tokyo
Tanaka, Toshihiro
Japan, Yokohama
Riken Yokohama Institute
Japan, Tokyo
Tokyo Medical and Dental University
Nakamura, Yusuke
Japan, Tokyo
The University of Tokyo
United States, Chicago
The University of Chicago
Kaprio, Jaakko A.
United States, New York
Pfizer Inc.
Kaunisto, Mari Anneli
Finland, Helsinki
Helsingin Yliopisto
Ganna, Andrea
Finland, Helsinki
Helsingin Yliopisto
Niiranen, Teemu J.
Finland, Helsinki
Terveyden ja Hyvinvoinnin Laitos
Kristiansson, Kati
Finland, Helsinki
Terveyden ja Hyvinvoinnin Laitos
Perola, Markus
Finland, Helsinki
Terveyden ja Hyvinvoinnin Laitos
Kilpi, Terhi M.
Finland, Helsinki
Terveyden ja Hyvinvoinnin Laitos
Mattsson, Hannele
Finland, Helsinki
Terveyden ja Hyvinvoinnin Laitos
Rahimov, Fedik
United States, North Chicago
Abbvie
Heap, Graham A.
United States, North Chicago
Abbvie
Smaoui, Nizar
United States, North Chicago
Abbvie
Popovic, Relja
United States, North Chicago
Abbvie
Petrovski, Slavé D.Sign©
United Kingdom, Cambridge
Astrazeneca
Schleutker, Johanna
Finland, Turku
Varsinais-suomen Sairaanhoitopiiri
Mannermaa, Arto Msci
Finland, Kuopio
Itä-suomen Yliopisto
Kosma, Veli Matti
Finland, Kuopio
Itä-suomen Yliopisto
Chen, Chia Yen
United States, Cambridge
Biogen Inc.
Liu, Jimmy Zhenli
United States, Cambridge
Biogen Inc.
Zhou, Wei
United States, Cambridge
Broad Institute
Plenge, Robert M.
United States, Summit
Celgene Corporation
Biswas, Shameek
United States, Summit
Celgene Corporation
Kuopio, T.
Finland, Jyvaskyla
Central Finland Health Care District
Laukkanen, Jari Antero
Finland, Jyvaskyla
Central Finland Health Care District
Laaksonen, Reijo M.H.
Finland, Tampere
Pirkanmaan Sairaanhoitopiiri
Arvas, Mikko
Finland, Tampere
Pirkanmaan Sairaanhoitopiiri
Partanen, Jukka A. Antero
Finland, Tampere
Pirkanmaan Sairaanhoitopiiri
Wahlfors, Tiina A.
Finland, Tampere
Pirkanmaan Sairaanhoitopiiri
McCarthy, Mark I.
United States, San Francisco
Genentech, Inc
Bowers, Natalie
United States, San Francisco
Genentech, Inc
Waterworth, Dawn M.
United Kingdom, Brentford
Glaxosmithkline Plc.
Betts, Joanna C.
United Kingdom, Brentford
Glaxosmithkline Plc.
Auro, Kirsi M.
United Kingdom, Brentford
Glaxosmithkline Plc.
Loukola, Anu
Finland, Helsinki
Uudenmaan ja Helsingin Sairaanhoitopiirit
Joensuu, Heikki T.
Finland, Helsinki
Uudenmaan ja Helsingin Sairaanhoitopiirit
Sinisalo, Juha P.
Finland, Helsinki
Uudenmaan ja Helsingin Sairaanhoitopiirit
Aaltonen, Lauri A.
Finland, Helsinki
Uudenmaan ja Helsingin Sairaanhoitopiirit
Färkkilä, Martti A.
Finland, Helsinki
Uudenmaan ja Helsingin Sairaanhoitopiirit
Carpén, Olli Mikael
Finland, Helsinki
Uudenmaan ja Helsingin Sairaanhoitopiirit
Kauppi, Paula Maria
Finland, Helsinki
Uudenmaan ja Helsingin Sairaanhoitopiirit
Tuomi, Tiinamaija
Finland, Helsinki
Uudenmaan ja Helsingin Sairaanhoitopiirit
Meretoja, Tuomo J.
Finland, Helsinki
Uudenmaan ja Helsingin Sairaanhoitopiirit
Pitkäranta, Anne
Finland, Helsinki
Uudenmaan ja Helsingin Sairaanhoitopiirit
Hannula-Jouppi, Katariina
Finland, Helsinki
Uudenmaan ja Helsingin Sairaanhoitopiirit
Rinne, Juha Olavi
Finland, Turku
Varsinais-suomen Sairaanhoitopiiri
Metsärinne, Kaj P.
Finland, Turku
Varsinais-suomen Sairaanhoitopiiri
Juonala, Markus T.
Finland, Turku
Varsinais-suomen Sairaanhoitopiiri
Chu, Audrey Y.
United States, Rahway
Merck & Co., Inc.
Fox, Caroline S.
United States, Rahway
Merck & Co., Inc.
Holzinger, Emily Rose
United States, Rahway
Merck & Co., Inc.
Eicher, John D.
United States, Rahway
Merck & Co., Inc.
Gormley, Padhraig
United States, Rahway
Merck & Co., Inc.
Kettunen, Johannes
Unknown Affiliation
Pylkäs, Katri
Unknown Affiliation
Vainio, Seppo Juhani
Unknown Affiliation
Mantere, T.
Unknown Affiliation
Huhtakangas, Johanna A.
Unknown Affiliation
Junttila, M. Juhani
Unknown Affiliation
Huilaja, Laura
Unknown Affiliation
Soininen, Hikka S.
Unknown Affiliation
Pihlajamäki, Jussi
Unknown Affiliation
Kaarniranta, Kai
Unknown Affiliation
Laakso, M. M.
Unknown Affiliation
Hiltunen, Mikko J.
Unknown Affiliation
Auvinen, P.
Unknown Affiliation
Kälviäinen, Reetta K. K.
Unknown Affiliation
Mal̈arstig, Anders
United States, New York
Pfizer Inc.
Hedman, Åsa K.
United States, New York
Pfizer Inc.
Whelan, Christopher D.
United States, New York
Pfizer Inc.
Parkkinen, Jaakko
United States, New York
Pfizer Inc.
Chen, Xing
United States, New York
Pfizer Inc.
Wu, Ying
United States, New York
Pfizer Inc.
Uusitalo, Hannu M.T.
Finland, Tampere
Pirkanmaan Sairaanhoitopiiri
Kähönen, Mika A.P.
Finland, Tampere
Pirkanmaan Sairaanhoitopiiri
Muslin, Anthony J.
France, Gentilly
Sanofi S.a.
Klinger, Katherine Wood
France, Gentilly
Sanofi S.a.
Palin, Kimmo
Finland, Helsinki
Helsingin Yliopisto
Rivas, Manuel A.
United States, Palo Alto
Stanford University
Aslam, Tariq Mehmood
United Kingdom, Manchester
The University of Manchester
Barrett, Jennifer H.
United Kingdom, Leeds
University of Leeds
Bunce, Catey B.
United Kingdom, London
King's College London
Carare, Roxana Octavia
United Kingdom, Southampton
University of Southampton
Chakravarthy, Usha
United Kingdom, Belfast
Queen's University Belfast
Cipriani, Valentina
United Kingdom, London
Ucl Institute of Ophthalmology
Day, Alexander Clifford
United Kingdom, London
Moorfields Eye Hospital Nhs Foundation Trust
Dhillon, Bal J.
United Kingdom, Edinburgh
The University of Edinburgh
Dick, A. D.
United Kingdom, Bristol
University of Bristol
Egan, Catherine A.
United Kingdom, London
Moorfields Eye Hospital Nhs Foundation Trust
Foster, Paul J.
United Kingdom, London
Ucl Institute of Ophthalmology
Gore, Daniel M.
United Kingdom, London
Moorfields Eye Hospital Nhs Foundation Trust
Hardcastle, Alison J.
United Kingdom, London
Ucl Institute of Ophthalmology
Harding, Simon P.
United Kingdom, Liverpool
University of Liverpool
Hogg, Ruth E.
United Kingdom, Belfast
Queen's University Belfast
Keane, Pearse A.
United Kingdom, London
Ucl Institute of Ophthalmology
Khaw, Peng-Tee Tee
United Kingdom, London
Ucl Institute of Ophthalmology
United Kingdom, London
University College London
Khawaja, Anthony P.
United Kingdom, London
Ucl Institute of Ophthalmology
Lascaratos, Gerassimos Dos
United Kingdom, London
Moorfields Eye Hospital Nhs Foundation Trust
Lotery, Andrew John
United Kingdom, Southampton
University Hospital Southampton Nhs Foundation Trust
United Kingdom, Southampton
University of Southampton
Luthert, Philip J.
United Kingdom, London
Ucl Institute of Ophthalmology
MacGillivray, Tom
United Kingdom, Edinburgh
The University of Edinburgh
MacKie, Sarah L.
United Kingdom, Leeds
University of Leeds
McKay, Gareth J.
United Kingdom, Belfast
Queen's University Belfast
McKibbin, Martin Andrew
United Kingdom, Leeds
Leeds Teaching Hospitals Nhs Trust
Moore, Tony
United Kingdom, London
Ucl Institute of Ophthalmology
Owen, Christopher G.
United Kingdom, London
St George’s, University of London
Patel, Praveen J.
United Kingdom, London
Moorfields Eye Hospital Nhs Foundation Trust
Peto, Tunde
United Kingdom, Belfast
Queen's University Belfast
Petzold, Axel
United Kingdom, London
Ucl Queen Square Institute of Neurology
Rudnicka, Alicja Regina
United Kingdom, London
St George’s, University of London
Sivaprasad, Sobha
United Kingdom, London
Moorfields Eye Hospital Nhs Foundation Trust
Steel, David H.W.
United Kingdom, London
Moorfields Eye Hospital Nhs Foundation Trust
Sudlow, Cathie L.M.
United Kingdom, Edinburgh
The University of Edinburgh
Tufail, Adnan
United Kingdom, London
Moorfields Eye Hospital Nhs Foundation Trust
Vernon, Stephen Andrew
United Kingdom, Nottingham
Nottingham University Hospitals Nhs Trust
Viswanathan, Ananth C.
United Kingdom, London
Moorfields Eye Hospital Nhs Foundation Trust
Woodside, Jayne V.
United Kingdom, Belfast
Queen's University Belfast
Yates, Max
United Kingdom, Norwich
University of East Anglia
Yip, Jennifer Lai Yee
United Kingdom, Cambridge
University of Cambridge
Zheng, Yalin
United Kingdom, Liverpool
University of Liverpool
Tapp, Robyn Jennifer
United Kingdom, London
St George’s, University of London
Doney, Alex S.F.
United Kingdom, Dundee
University of Dundee
Allen, Naomi E.
United Kingdom, Oxford
University of Oxford
Sergouniotis, Panagiotis I.
United Kingdom, Manchester
The University of Manchester
Black, Graeme C. M.
United Kingdom, Manchester
The University of Manchester
Kanyaro, Neema
Tanzania, Dar es Salaam
Muhimbili University of Health and Allied Sciences
Ntomoka, Cyprian Gabriel
Tanzania, Dar es Salaam
Comprehensive Community Based Rehabilitation in Tanzania Ccbrt
Massaga, Julius John
Tanzania, Tanga
National Institute for Medical Research Tanga
Ikungura, Joyce K.
Tanzania, Tanga
National Institute for Medical Research Tanga
Agee, Michelle
United States, Mountain View
23andme Inc.
Aslibekyan, Stella
United States, Mountain View
23andme Inc.
Bell, Robert K.
United States, Mountain View
23andme Inc.
Bryc, Katarzyna
United States, Mountain View
23andme Inc.
Elson, Sarah L.
United States, Mountain View
23andme Inc.
Fontanillas, Pierre
United States, Mountain View
23andme Inc.
Furlotte, Nicholas A.
United States, Mountain View
23andme Inc.
Hinds, David A.
United States, Mountain View
23andme Inc.
Huber, Karen E.
United States, Mountain View
23andme Inc.
Jewett, Ethan M.
United States, Mountain View
23andme Inc.
Kleinman, Aaron
United States, Mountain View
23andme Inc.
Litterman, Nadia K.
United States, Mountain View
23andme Inc.
McIntyre, Matthew H.
United States, Mountain View
23andme Inc.
Mountain, Joanna L.
United States, Mountain View
23andme Inc.
Nandakumar, Priyanka
United States, Mountain View
23andme Inc.
Noblin, Elizabeth S.
United States, Mountain View
23andme Inc.
Northover, Carrie A.M.
United States, Mountain View
23andme Inc.
Pitts, Steven J.
United States, Mountain View
23andme Inc.
Poznik, G. David
United States, Mountain View
23andme Inc.
Sathirapongsasuti, Jarupon Fah
United States, Mountain View
23andme Inc.
Shelton, Janie F.
United States, Mountain View
23andme Inc.
Shringarpure, Suyash S.
United States, Mountain View
23andme Inc.
Tian, Chao
United States, Mountain View
23andme Inc.
Tung, Joyce Y.
United States, Mountain View
23andme Inc.
Vacic, Vladimir
United States, Mountain View
23andme Inc.
Shiga, Yukihiro
Japan, Sendai
Graduate School of Medicine
Yamamoto, Masayuki
Japan, Sendai
Tohoku University
Nakazawa, Toru
Japan, Sendai
Graduate School of Medicine
Birney, Ewan
United Kingdom, Hinxton
Embl’s European Bioinformatics Institute
Auton, Adam
United States, Mountain View
23andme Inc.
Martin, Nicholas G.
Australia, Brisbane
Qimr Berghofer Medical Research Institute
Ashaye, Adeyinka Olusola
Nigeria, Ibadan
University of Ibadan
Olawoye, Olusola Oluyinka
Nigeria, Ibadan
University of Ibadan
Williams, Susan E.I.
South Africa, Johannesburg
University of the Witwatersrand
Akafo, Stephen K.
Ghana, Accra
University of Ghana
Ramsay, Michèle
South Africa, Johannesburg
University of the Witwatersrand
Akiyama, Masato
Japan, Yokohama
Riken Center for Integrative Medical Sciences
Japan, Fukuoka
Kyushu University
Momozawa, Yukihide
Japan, Yokohama
Riken Center for Integrative Medical Sciences
Kraft, Peter
United States, Boston
Harvard T.h. Chan School of Public Health
Pang, Chi Pui
Hong Kong, Hong Kong
Chinese University of Hong Kong
Pasutto, Francesca
Germany, Erlangen
Friedrich-alexander-universität Erlangen-nürnberg
Mitchell, Paul A.
Australia, Parramatta
The Westmead Institute for Medical Research
Palotie, Aarno V.
Finland, Helsinki
Helsingin Yliopisto
United States, Boston
Massachusetts General Hospital
United States, Cambridge
Massachusetts Institute of Technology
van Duijn, Cornelia M.
Netherlands, Rotterdam
Erasmus Mc
United Kingdom, Oxford
University of Oxford
Hammond, Christopher J.
United Kingdom, London
King's College London
Pasquale, Louis Robert
United States, New York
Icahn School of Medicine at Mount Sinai
Klaver, Caroline C.W.
Switzerland, Basel
Institute of Molecular and Clinical Ophthalmology Basel
Hauser, Michael A.
Singapore, Singapore City
Duke-nus Medical School
Japan, Yokohama
Riken Center for Integrative Medical Sciences
Cheng, Ching Yu
Singapore, Singapore City
Singapore Eye Research Institute
Singapore, Singapore City
Duke-nus Medical School
Singapore, Singapore City
National University of Singapore
MacGregor, Stuart
Australia, Brisbane
Qimr Berghofer Medical Research Institute
Australia, Hobart
University of Tasmania
Australia, Melbourne
Centre for Eye Research Australia
Wiggs, Janey L.
United States, Boston
Harvard Medical School
Statistics
Citations: 124
Authors: 244
Affiliations: 125
Identifiers
Doi:
10.1038/s41467-020-20851-4
ISSN:
20411723
Research Areas
Genetics And Genomics
Health System And Policy
Study Approach
Systematic review