Please use this identifier to cite or link to this item: https://doi.org/10.1038/s41467-020-20851-4
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dc.titleGenome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries
dc.contributor.authorGharahkhani, Puya
dc.contributor.authorJorgenson, Eric
dc.contributor.authorHysi, Pirro
dc.contributor.authorKhawaja, Anthony P.
dc.contributor.authorPendergrass, Sarah
dc.contributor.authorHan, Xikun
dc.contributor.authorOng, Jue Sheng
dc.contributor.authorHewitt, Alex W.
dc.contributor.authorSegrè, A.V.
dc.contributor.authorRouhana, John M.
dc.contributor.authorHamel, Andrew R.
dc.contributor.authorIgo, Robert P., Jr.
dc.contributor.authorChoquet, Helene
dc.contributor.authorQassim, Ayub
dc.contributor.authorJosyula, Navya S.
dc.contributor.authorCooke Bailey, J.N.
dc.contributor.authorBonnemaijer, Pieter W. M.
dc.contributor.authorIglesias, Adriana
dc.contributor.authorSiggs, Owen M.
dc.contributor.authorYoung, Terri L.
dc.contributor.authorVitart, Veronique
dc.contributor.authorThiadens, Alberta A. H. J.
dc.contributor.authorKarjalainen, Juha
dc.contributor.authorUebe, Steffen
dc.contributor.authorMelles, Ronald B.
dc.contributor.authorNair, K. Saidas
dc.contributor.authorLuben, Robert
dc.contributor.authorSimcoe, Mark
dc.contributor.authorAmersinghe, Nishani
dc.contributor.authorCree, Angela J.
dc.contributor.authorHohn, Rene
dc.contributor.authorPoplawski, Alicia
dc.contributor.authorChen, Li Jia
dc.contributor.authorRong, Shi-Song
dc.contributor.authorAung, Tin
dc.contributor.authorVithana, Eranga Nishanthie
dc.contributor.authorAllingham, R.R.
dc.contributor.authorBrilliant, M.
dc.contributor.authorBudenz, D.L.
dc.contributor.authorBailey, Jessica N. Cooke
dc.contributor.authorFingert, J.H.
dc.contributor.authorGaasterland, D.
dc.contributor.authorGaasterland, T.
dc.contributor.authorHaines, Jonathan L.
dc.contributor.authorHauser, Michael
dc.contributor.authorLee, R.K.
dc.contributor.authorLichter, P.R.
dc.contributor.authorLiu, Y.
dc.contributor.authorMoroi, S.
dc.contributor.authorMyers, J.
dc.contributor.authorPericak-Vance, M.
dc.contributor.authorRealini, A.
dc.contributor.authorRhee, D.
dc.contributor.authorRichards, J.E.
dc.contributor.authorRitch, R.
dc.contributor.authorSchuman, J.S.
dc.contributor.authorScott, W.K.
dc.contributor.authorSingh, K.
dc.contributor.authorSit, A.J.
dc.contributor.authorVollrath, D.
dc.contributor.authorWeinreb, R.N.
dc.contributor.authorWollstein, G.
dc.contributor.authorZack, D.J.
dc.contributor.authorSharma, S.
dc.contributor.authorMartin, S.
dc.contributor.authorZhou, T.
dc.contributor.authorSouzeau, E.
dc.contributor.authorLanders, J.
dc.contributor.authorFitzgerald, J.T.
dc.contributor.authorMills, R.A.
dc.contributor.authorCraig, Jamie E.
dc.contributor.authorBurdon, K.
dc.contributor.authorGraham, S.L.
dc.contributor.authorCasson, R.J.
dc.contributor.authorGoldberg, I.
dc.contributor.authorWhite, A.J.
dc.contributor.authorHealey, P.R.
dc.contributor.authorMackey, David A.
dc.contributor.authorHewitt, Alex W.
dc.contributor.authorShiono, M.
dc.contributor.authorMisumi, K.
dc.contributor.authorKaieda, R.
dc.contributor.authorHarada, H.
dc.contributor.authorMinami, S.
dc.contributor.authorEmi, M.
dc.contributor.authorEmoto, N.
dc.contributor.authorDaida, H.
dc.contributor.authorMiyauchi, K.
dc.contributor.authorMurakami, A.
dc.contributor.authorAsai, S.
dc.contributor.authorMoriyama, M.
dc.contributor.authorTakahashi, Y.
dc.contributor.authorFujioka, T.
dc.contributor.authorObara, W.
dc.contributor.authorMori, S.
dc.contributor.authorIto, H.
dc.contributor.authorNagayama, S.
dc.contributor.authorMiki, Y.
dc.contributor.authorMasumoto, A.
dc.contributor.authorYamada, A.
dc.contributor.authorNishizawa, Y.
dc.contributor.authorKodama, K.
dc.contributor.authorKutsumi, H.
dc.contributor.authorSugimoto, Y.
dc.contributor.authorKoretsune, Y.
dc.contributor.authorKusuoka, H.
dc.contributor.authorYanaiag, H.
dc.contributor.authorNagai, A.
dc.contributor.authorHirata, M.
dc.contributor.authorKamatani, Yoichiro
dc.contributor.authorMuto, K.
dc.contributor.authorMatsuda, K.
dc.contributor.authorKiyohara, Y.
dc.contributor.authorNinomiya, T.
dc.contributor.authorTamakoshi, A.
dc.contributor.authorYamagata, Z.
dc.contributor.authorMushiroda, T.
dc.contributor.authorMurakami, Y.
dc.contributor.authorYuji, K.
dc.contributor.authorFurukawa, Y.
dc.contributor.authorZembutsu, H.
dc.contributor.authorTanaka, T.
dc.contributor.authorOhnishi, Y.
dc.contributor.authorNakamura, Y.
dc.contributor.authorJalanko, A.
dc.contributor.authorKaprio, J.
dc.contributor.authorDonner, K.
dc.contributor.authorKaunisto, M.
dc.contributor.authorMars, N.
dc.contributor.authorDada, A.
dc.contributor.authorShcherban, A.
dc.contributor.authorGanna, A.
dc.contributor.authorLehisto, A.
dc.contributor.authorKilpeläinen, E.
dc.contributor.authorBrein, G.
dc.contributor.authorAwaisa, G.
dc.contributor.authorHarju, J.
dc.contributor.authorPärn, K.
dc.contributor.authorDella Briotta Parolo, P.
dc.contributor.authorKajanne, R.
dc.contributor.authorLemmelä, S.
dc.contributor.authorSipilä, T.P.
dc.contributor.authorSipilä, T.
dc.contributor.authorLyhs, U.
dc.contributor.authorLlorens, V.
dc.contributor.authorNiiranen, T.
dc.contributor.authorKristiansson, K.
dc.contributor.authorMännikkö, L.
dc.contributor.authorJiménez, M.G.
dc.contributor.authorPerola, M.
dc.contributor.authorWong, R.
dc.contributor.authorKilpi, T.
dc.contributor.authorHiekkalinna, T.
dc.contributor.authorJärvensivu, E.
dc.contributor.authorKaiharju, E.
dc.contributor.authorMattsson, H.
dc.contributor.authorLaukkanen, M.
dc.contributor.authorLaiho, P.
dc.contributor.authorLähteenmäki, S.
dc.contributor.authorSistonen, T.
dc.contributor.authorSoini, S.
dc.contributor.authorZiemann, A.
dc.contributor.authorLehtonen, A.
dc.contributor.authorLertratanakul, A.
dc.contributor.authorGeorgantas, B.
dc.contributor.authorRiley-Gillis, B.
dc.contributor.authorQuarless, D.
dc.contributor.authorRahimov, F.
dc.contributor.authorHeap, G.
dc.contributor.authorJacob, H.
dc.contributor.authorWaring, J.
dc.contributor.authorDavis, J.W.
dc.contributor.authorSmaoui, N.
dc.contributor.authorPopovic, R.
dc.contributor.authorEsmaeeli, S.
dc.contributor.authorWaring, J.
dc.contributor.authorMatakidou, A.
dc.contributor.authorChallis, B.
dc.contributor.authorClose, D.
dc.contributor.authorPetrovski, S.
dc.contributor.authorKarlsson, A.
dc.contributor.authorSchleutker, J.
dc.contributor.authorPulkki, K.
dc.contributor.authorVirolainen, P.
dc.contributor.authorKallio, L.
dc.contributor.authorMannermaa, A.
dc.contributor.authorHeikkinen, S.
dc.contributor.authorKosma, V.-M.
dc.contributor.authorChen, C.-Y.
dc.contributor.authorRunz, H.
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dc.contributor.authorBronson, P.
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dc.contributor.authorZhou, W.
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dc.contributor.authorTuovila, O.
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dc.contributor.authorLaakkonen, E.
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dc.contributor.authorKujala, U.
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dc.contributor.authorTeng, E.
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dc.contributor.authorWaterworth, D.
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dc.contributor.authorTamiya, Gen
dc.contributor.authorShiga, Yukihiro
dc.contributor.authorYamamoto, Masayuki
dc.contributor.authorNakazawa, Toru
dc.contributor.authorCurrant, Hannah
dc.contributor.authorBirney, Ewan
dc.contributor.authorWang, Xin
dc.contributor.authorAuton, Adam
dc.contributor.authorLupton, Michelle K.
dc.contributor.authorMartin, Nicholas G.
dc.contributor.authorAshaye, Adeyinka
dc.contributor.authorOlawoye, Olusola
dc.contributor.authorWilliams, Susan E.
dc.contributor.authorAkafo, Stephen
dc.contributor.authorRamsay, Michele
dc.contributor.authorHashimoto, Kazuki
dc.contributor.authorKamatani, Yoichiro
dc.contributor.authorAkiyama, Masato
dc.contributor.authorMomozawa, Yukihide
dc.contributor.authorFoster, Paul J.
dc.contributor.authorKhaw, Peng T.
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dc.contributor.authorPang, Chi Pui
dc.contributor.authorPasutto, Francesca
dc.contributor.authorMitchell, Paul
dc.contributor.authorLotery, Andrew J.
dc.contributor.authorPalotie, Aarno
dc.contributor.authorVan Duijn, Cornelia
dc.contributor.authorHammond, Chris
dc.contributor.authorPasquale, Louis R.
dc.contributor.authorKlaver, Caroline C. W.
dc.contributor.authorKlaver, Caroline C. W.
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dc.date.accessioned2022-10-13T01:08:58Z
dc.date.available2022-10-13T01:08:58Z
dc.date.issued2021-02-24
dc.identifier.citationGharahkhani, Puya, Jorgenson, Eric, Hysi, Pirro, Khawaja, Anthony P., Pendergrass, Sarah, Han, Xikun, Ong, Jue Sheng, Hewitt, Alex W., Segrè, A.V., Rouhana, John M., Hamel, Andrew R., Igo, Robert P., Jr., Choquet, Helene, Qassim, Ayub, Josyula, Navya S., Cooke Bailey, J.N., Bonnemaijer, Pieter W. M., Iglesias, Adriana, Siggs, Owen M., Young, Terri L., Vitart, Veronique, Thiadens, Alberta A. H. J., Karjalainen, Juha, Uebe, Steffen, Melles, Ronald B., Nair, K. Saidas, Luben, Robert, Simcoe, Mark, Amersinghe, Nishani, Cree, Angela J., Hohn, Rene, Poplawski, Alicia, Chen, Li Jia, Rong, Shi-Song, Aung, Tin, Vithana, Eranga Nishanthie, Allingham, R.R., Brilliant, M., Budenz, D.L., Bailey, Jessica N. 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Akafo, Stephen, Ramsay, Michele, Hashimoto, Kazuki, Kamatani, Yoichiro, Akiyama, Masato, Momozawa, Yukihide, Foster, Paul J., Khaw, Peng T., Morgan, James E., Strouthidis, Nicholas G., Kraft, Peter, Kang, Jae H., Pang, Chi Pui, Pasutto, Francesca, Mitchell, Paul, Lotery, Andrew J., Palotie, Aarno, Van Duijn, Cornelia, Hammond, Chris, Pasquale, Louis R., Klaver, Caroline C. W., Klaver, Caroline C. W., Hauser, Michael, Cheng, Ching-Yu, Macgregor, Stuart, Wiggs, Janey L. (2021-02-24). Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries. Nature Communications 12 (1) : 1258. ScholarBank@NUS Repository. https://doi.org/10.1038/s41467-020-20851-4
dc.identifier.issn2041-1723
dc.identifier.urihttps://scholarbank.nus.edu.sg/handle/10635/232760
dc.description.abstractPrimary 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).
dc.publisherNature Research
dc.rightsAttribution 4.0 International
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/
dc.sourceScopus OA2021
dc.typeArticle
dc.contributor.departmentDUKE-NUS MEDICAL SCHOOL
dc.description.doi10.1038/s41467-020-20851-4
dc.description.sourcetitleNature Communications
dc.description.volume12
dc.description.issue1
dc.description.page1258
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