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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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Open Access link.
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
|
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 |