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Gharahkhani, Puya ORCID: 0000-0002-4203-5952, Jorgenson, Eric ORCID: 0000-0002-5829-8191, Hysi, Pirro ORCID: 0000-0001-5752-2510, Khawaja, Anthony P ORCID: 0000-0001-6802-8585, Pendergrass, Sarah, Han, Xikun ORCID: 0000-0002-3823-7308, Ong, Jue Sheng ORCID: 0000-0002-6062-710X, Hewitt, Alex W ORCID: 0000-0002-5123-5999, Segrè, Ayellet V, Rouhana, John M ORCID: 0000-0002-8599-0271 et al (show 76 more authors) , Hamel, Andrew R ORCID: 0000-0001-6420-9573, Igo, Robert P ORCID: 0000-0002-0024-1993, Choquet, Helene ORCID: 0000-0001-9839-8667, Qassim, Ayub ORCID: 0000-0002-2911-2941, Josyula, Navya S ORCID: 0000-0003-2782-8812, Cooke Bailey, Jessica N ORCID: 0000-0002-4001-8702, Bonnemaijer, Pieter WM ORCID: 0000-0001-5154-6765, Iglesias, Adriana ORCID: 0000-0001-5532-764X, Siggs, Owen M ORCID: 0000-0003-2840-4851, Young, Terri L ORCID: 0000-0001-6994-9941, Vitart, Veronique ORCID: 0000-0002-4991-3797, Thiadens, Alberta AHJ ORCID: 0000-0002-4911-9462, Karjalainen, Juha, Uebe, Steffen, Melles, Ronald B ORCID: 0000-0003-1027-4083, Nair, K Saidas, Luben, Robert ORCID: 0000-0002-5088-6343, Simcoe, Mark ORCID: 0000-0003-2432-0810, Amersinghe, Nishani, Cree, Angela J ORCID: 0000-0002-1987-8900, Hohn, Rene, Poplawski, Alicia ORCID: 0000-0003-2527-0763, Chen, Li Jia, Rong, Shi-Song ORCID: 0000-0001-8352-6363, Aung, Tin, Vithana, Eranga Nishanthie ORCID: 0000-0002-8898-0095, NEIGHBORHOOD consortium, , ANZRAG consortium, , Biobank Japan project, , FinnGen study, , UK Biobank Eye and Vision Consortium, , GIGA study group, , 23 and Me Research Team, , Tamiya, Gen, Shiga, Yukihiro, Yamamoto, Masayuki ORCID: 0000-0002-9073-9436, Nakazawa, Toru, Currant, Hannah ORCID: 0000-0003-2764-6787, Birney, Ewan ORCID: 0000-0001-8314-8497, Wang, Xin ORCID: 0000-0001-7242-357X, Auton, Adam, Lupton, Michelle K, Martin, Nicholas G ORCID: 0000-0003-4069-8020, Ashaye, Adeyinka, Olawoye, Olusola ORCID: 0000-0003-2357-8924, Williams, Susan E ORCID: 0000-0002-4479-8638, Akafo, Stephen, Ramsay, Michele ORCID: 0000-0002-4156-4801, Hashimoto, Kazuki, Kamatani, Yoichiro ORCID: 0000-0001-8748-5597, Akiyama, Masato, Momozawa, Yukihide, Foster, Paul J ORCID: 0000-0002-4755-177X, Khaw, Peng T ORCID: 0000-0002-8087-2268, Morgan, James E, Strouthidis, Nicholas G, Kraft, Peter ORCID: 0000-0002-4472-8103, Kang, Jae H ORCID: 0000-0003-4812-0557, Pang, Chi Pui, Pasutto, Francesca ORCID: 0000-0002-0026-5362, Mitchell, Paul, Lotery, Andrew J ORCID: 0000-0001-5541-4305, Palotie, Aarno ORCID: 0000-0002-2527-5874, van Duijn, Cornelia ORCID: 0000-0002-2374-9204, Haines, Jonathan L ORCID: 0000-0002-4351-4728, Hammond, Chris ORCID: 0000-0002-3227-2620, Pasquale, Louis R ORCID: 0000-0002-5835-3496, Klaver, Caroline CW ORCID: 0000-0002-2355-5258, Hauser, Michael, Khor, Chiea Chuen ORCID: 0000-0002-1128-4729, Mackey, David A, Kubo, Michiaki, Cheng, Ching-Yu ORCID: 0000-0003-0655-885X, Craig, Jamie E, MacGregor, Stuart ORCID: 0000-0001-6731-8142 and Wiggs, Janey L ORCID: 0000-0003-1890-3278
(2021)
Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries.
Nature communications, 12 (1).
1258-.
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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.
Item Type: |
Article
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Uncontrolled Keywords: |
NEIGHBORHOOD consortium, ANZRAG consortium, Biobank Japan project, FinnGen study, UK Biobank Eye and Vision Consortium, GIGA study group, 23 and Me Research Team, Humans, Glaucoma, Open-Angle, Genetic Predisposition to Disease, Genotype, Polymorphism, Single Nucleotide, Genome-Wide Association Study, Genetic Loci, Asian People, White People |
Divisions: |
Faculty of Health and Life Sciences Faculty of Health and Life Sciences > Institute of Life Courses and Medical Sciences |
Depositing User: |
Symplectic Admin
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Date Deposited: |
30 Jun 2021 10:10 |
Last Modified: |
16 Feb 2023 00:37 |
DOI: |
10.1038/s41467-020-20851-4 |
Open Access URL: |
http://doi.org/10.1038/s41467-020-20851-4 |
Related URLs: |
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URI: |
https://livrepository.liverpool.ac.uk/id/eprint/3128248 |