Gharahkhani, P;
Jorgenson, E;
Hysi, P;
Khawaja, AP;
Pendergrass, S;
Han, X;
Ong, JS;
Hewitt, AW;
Segrè, AV;
Rouhana, JM;
et al.
Gharahkhani, P; Jorgenson, E; Hysi, P; Khawaja, AP; Pendergrass, S; Han, X; Ong, JS; Hewitt, AW; Segrè, AV; Rouhana, JM; Hamel, AR; Igo, RP; Choquet, H; Qassim, A; Josyula, NS; Cooke Bailey, JN; Bonnemaijer, PWM; Iglesias, A; Siggs, OM; Young, TL; Vitart, V; Thiadens, AAHJ; Karjalainen, J; Uebe, S; Melles, RB; Nair, KS; Luben, R; Simcoe, M; Amersinghe, N; Cree, AJ; Hohn, R; Poplawski, A; Chen, LJ; Rong, S-S; Aung, T; Vithana, EN; NEIGHBORHOOD consortium; ANZRAG consortium; Biobank Japan project; FinnGen study; UK Biobank Eye and Vision Consortium; GIGA study group; 23 and Me Research Team; Tamiya, G; Shiga, Y; Yamamoto, M; Nakazawa, T; Currant, H; Birney, E; Wang, X; Auton, A; Lupton, MK; Martin, NG; Ashaye, A; Olawoye, O; Williams, SE; Akafo, S; Ramsay, M; Hashimoto, K; Kamatani, Y; Akiyama, M; Momozawa, Y; Foster, PJ; Khaw, PT; Morgan, JE; Strouthidis, NG; Kraft, P; Kang, JH; Pang, CP; Pasutto, F; Mitchell, P; Lotery, AJ; Palotie, A; van Duijn, C; Haines, JL; Hammond, C; Pasquale, LR; Klaver, CCW; Hauser, M; Khor, CC; Mackey, DA; Kubo, M; Cheng, C-Y; Craig, JE; MacGregor, S; Wiggs, JL
(2021)
Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries.
Nat Commun, 12 (1).
p. 1258.
ISSN 2041-1723
https://doi.org/10.1038/s41467-020-20851-4
SGUL Authors: Owen, Christopher Grant
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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.
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| Additional Information: | Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/. © The Author(s) 2021 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Keywords: | Asian Continental Ancestry Group, European Continental Ancestry Group, Genetic Loci, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Glaucoma, Open-Angle, Humans, Polymorphism, Single Nucleotide, 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, Asian Continental Ancestry Group, European Continental Ancestry Group, Genome-Wide Association Study, Genetic Loci, MD Multidisciplinary | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| SGUL Research Institute / Research Centre: | Academic Structure > Population Health Research Institute (INPH) | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Journal or Publication Title: | Nat Commun | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| ISSN: | 2041-1723 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Language: | eng | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Publisher License: | Creative Commons: Attribution 4.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| PubMed ID: | 33627673 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Web of Science ID: | WOS:000626610200001 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| URI: | https://openaccess.sgul.ac.uk/id/eprint/113757 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Publisher's version: | https://doi.org/10.1038/s41467-020-20851-4 |
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