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Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries


Gharahkhani, P and Jorgenson, E and Hysi, P and Khawaja, AP and Pendergrass, S and Han, X and Ong, JS and Hewitt, AW and Segre, AV and Rouhana, JM and Hamel, AR and Igo, RP and Choquet, H and Qassim, A and Josyula, NS and Cooke Bailey, JN and Bonnemaijer, PWM and Iglesias, A and Siggs, OM and Young, TL and Vitart, V and Thiadens, AAHJ and Karjalainen, J and Uebe, S and Melles, RB and Nair, KS and Luben, R and Simcoe, M and Amersinghe, N and Cree, AJ and Hohn, R and Poplawski, A and Chen, LJ and Rong, SS and Aung, T and Vithana, EN and Tamiya, G and Shiga, Y and Yamamoto, M and Nakazawa, T and Currant, H and Wang, X and Auton, A and Lupton, MK and Martin, NG and Ashaye, A and Olawoye, O and Williams, SE and Akato, S and Ramsay, M and Hashimoto, K and Kamatani, Y and Akiyama, M and Momozawa, Y and Foster, PJ and Khaw, PT and Morgan, JE and Strouthidis, NG and Kraft, P and Hang, JH and Pang, CP and Pasutto, F and Mitchell, P and Lotery, AJ and Pasquale, LR and Klaver, CCW and Hauser, M and Khor, CC and Mackey, DA and Kubo, M and Cheng, CY and Craig, JE and MacGregor, S and Wiggs, JL, NEIGHBORHOOD consortium, ANZRAG consortium, Biobank Japan project, Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries, Nature Communications, 12, (1) Article 1258. ISSN 2041-1723 (2021) [Refereed Article]

DOI: doi:10.1038/s41467-020-20851-4


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 Details

Item Type:Refereed Article
Keywords:differential expression analysis, genotype imputation, gene expression, human diseases, association, risk, prevalence, protein
Research Division:Biomedical and Clinical Sciences
Research Group:Ophthalmology and optometry
Research Field:Ophthalmology
Objective Division:Health
Objective Group:Clinical health
Objective Field:Diagnosis of human diseases and conditions
UTAS Author:Hewitt, AW (Professor Alex Hewitt)
ID Code:152900
Year Published:2021
Web of Science® Times Cited:49
Deposited By:Medicine
Deposited On:2022-08-26
Last Modified:2022-12-06

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