Please use this identifier to cite or link to this item: https://doi.org/10.1038/s41467-020-20851-4
Title: Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries
Authors: Gharahkhani, 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. Cooke
Fingert, J.H.
Gaasterland, D.
Gaasterland, T.
Haines, Jonathan L.
Hauser, Michael 
Lee, R.K.
Lichter, P.R.
Liu, Y.
Moroi, S.
Myers, J.
Pericak-Vance, M.
Realini, A.
Rhee, D.
Richards, J.E.
Ritch, R.
Schuman, J.S.
Scott, W.K.
Singh, K.
Sit, A.J.
Vollrath, D.
Weinreb, R.N.
Wollstein, G.
Zack, D.J.
Sharma, S.
Martin, S.
Zhou, T.
Souzeau, E.
Landers, J.
Fitzgerald, J.T.
Mills, R.A.
Craig, Jamie E.
Burdon, K.
Graham, S.L.
Casson, R.J.
Goldberg, I.
White, A.J.
Healey, P.R.
Mackey, David A.
Hewitt, Alex W.
Shiono, M.
Misumi, K.
Kaieda, R.
Harada, H.
Minami, S.
Emi, M.
Emoto, N.
Daida, H.
Miyauchi, K.
Murakami, A.
Asai, S.
Moriyama, M.
Takahashi, Y.
Fujioka, T.
Obara, W.
Mori, S.
Ito, H.
Nagayama, S.
Miki, Y.
Masumoto, A.
Yamada, A.
Nishizawa, Y.
Kodama, K.
Kutsumi, H.
Sugimoto, Y.
Koretsune, Y.
Kusuoka, H.
Yanaiag, H.
Nagai, A.
Hirata, M.
Kamatani, Yoichiro
Muto, K.
Matsuda, K.
Kiyohara, Y.
Ninomiya, T.
Tamakoshi, A.
Yamagata, Z.
Mushiroda, T.
Murakami, Y.
Yuji, K.
Furukawa, Y.
Zembutsu, H.
Tanaka, T.
Ohnishi, Y.
Nakamura, Y.
Jalanko, A.
Kaprio, J.
Donner, K.
Kaunisto, M.
Mars, N.
Dada, A.
Shcherban, A.
Ganna, A.
Lehisto, A.
Kilpeläinen, E.
Brein, G.
Awaisa, G.
Harju, J.
Pärn, K.
Della Briotta Parolo, P.
Kajanne, R.
Lemmelä, S.
Sipilä, T.P.
Sipilä, T.
Lyhs, U.
Llorens, V.
Niiranen, T.
Kristiansson, K.
Männikkö, L.
Jiménez, M.G.
Perola, M.
Wong, R.
Kilpi, T.
Hiekkalinna, T.
Järvensivu, E.
Kaiharju, E.
Mattsson, H.
Laukkanen, M.
Laiho, P.
Lähteenmäki, S.
Sistonen, T.
Soini, S.
Ziemann, A.
Lehtonen, A.
Lertratanakul, A.
Georgantas, B.
Riley-Gillis, B.
Quarless, D.
Rahimov, F.
Heap, G.
Jacob, H.
Waring, J.
Davis, J.W.
Smaoui, N.
Popovic, R.
Esmaeeli, S.
Waring, J.
Matakidou, A.
Challis, B.
Close, D.
Petrovski, S.
Karlsson, A.
Schleutker, J.
Pulkki, K.
Virolainen, P.
Kallio, L.
Mannermaa, A.
Heikkinen, S.
Kosma, V.-M.
Chen, C.-Y.
Runz, H.
Liu, J.
Bronson, P.
John, S.
Lahdenperä, S.
Eaton, S.
Zhou, W.
Hendolin, M.
Tuovila, O.
Pakkanen, R.
Maranville, J.
Usiskin, K.
Hochfeld, M.
Plenge, R.
Yang, R.
Biswas, S.
Greenberg, S.
Laakkonen, E.
Kononen, J.
Paloneva, J.
Kujala, U.
Kuopio, T.
Laukkanen, J.
Kangasniemi, E.
Savinainen, K.
Laaksonen, R.
Arvas, M.
Ritari, J.
Partanen, J.
Hyvärinen, K.
Wahlfors, T.
Peterson, A.
Oh, D.
Chang, D.
Teng, E.
Strauss, E.
Kerchner, G.
Chen, H.
Chen, H.
Schutzman, J.
Michon, J.
Hunkapiller, J.
McCarthy, M.
Bowers, N.
Lu, T.
Bhangale, T.
Pulford, D.
Waterworth, D.
Kulkarni, D.
Xu, F.
Betts, J.
Gordillo, J.E.
Hoffman, J.
Auro, K.
McCarthy, L.
Ghosh, S.
Ehm, M.
Pitkänen, K.
Mäkelä, T.
Loukola, A.
Joensuu, H.
Sinisalo, J.
Eklund, K.
Aaltonen, L.
Färkkilä, M.
Carpen, O.
Kauppi, P.
Tienari, P.
Ollila, T.
Tuomi, T.
Meretoja, T.
Pitkäranta, A.
Turunen, J.
Hannula-Jouppi, K.
Pikkarainen, S.
Seitsonen, S.
Koskinen, M.
Palomäki, A.
Rinne, J.
Metsärinne, K.
Elenius, K.
Pirilä, L.
Koulu, L.
Voutilainen, M.
Juonala, M.
Peltonen, S.
Aaltonen, V.
Loboda, A.
Podgornaia, A.
Chhibber, A.
Chu, A.
Fox, C.
Diogo, D.
Holzinger, E.
Eicher, J.
Gormley, P.
Mehta, V.
Wang, Xin
Kettunen, J.
Pylkäs, K.
Kalaoja, M.
Karjalainen, M.
Hinttala, R.
Kaarteenaho, R.
Vainio, S.
Mantere, T.
Remes, A.
Huhtakangas, J.
Junttila, J.
Tasanen, K.
Huilaja, L.
Luodonpää, M.
Hautala, N.
Karihtala, P.
Kauppila, S.
Harju, T.
Blomster, T.
Soininen, H.
Harvima, I.
Pihlajamäki, J.
Kaarniranta, K.
Pelkonen, M.
Laakso, M.
Hiltunen, M.
Kiviniemi, M.
Kaipiainen-Seppänen, O.
Auvinen, P.
Kälviäinen, R.
Julkunen, V.
Malarstig, A.
Hedman, Å.
Marshall, C.
Whelan, C.
Lehtonen, H.
Parkkinen, J.
Linden, K.
Kalpala, K.
Miller, M.
Bing, N.
McDonough, S.
Chen, X.
Hu, X.
Wu, Y.
Auranen, A.
Jussila, A.
Uusitalo-Järvinen, H.
Kankaanranta, H.
Uusitalo, H.
Peltola, J.
Kähönen, M.
Isomäki, P.
Laitinen, T.
Salmi, T.
Muslin, A.
Wang, C.
Chatelain, C.
Xu, E.
Auge, F.
Call, K.
Klinger, K.
Crohns, M.
Gossel, M.
Palin, K.
Rivas, M.
Siirtola, H.
Tabuenca, J.G.
Aslam, T.
Barman, S.
Barrett, J.
Bishop, P.
Bunce, C.
Carare, R.
Chakravarthy, U.
Chan, M.
Cipriani, V.
Day, A.
Desai, P.
Dhillon, B.
Dick, A.
Egan, C.
Ennis, S.
Foster, Paul J.
Fruttiger, M.
Gallacher, J.
Garway-Heath, D.
Gibson, J.
Gore, D.
Guggenheim, J.
Hardcastle, A.
Harding, S.
Hogg, R.
Keane, P.A.
Khaw, Peng T.
Khawaja, Anthony P.
Lascaratos, G.
Lotery, Andrew J.
Luthert, P.
Macgillivray, T.
Mackie, S.
Mcguinness, B.
Mckay, G.
Mckibbin, M.
Mitry, D.
Moore, T.
Morgan, James E.
Muthy, Z.
O’Sullivan, E.
Owen, C.
Patel, P.
Paterson, E.
Peto, T.
Petzold, A.
Rahi, J.
Rudnicka, A.
Self, J.
Sivaprasad, S.
Steel, D.
Stratton, I.
Strouthidis, Nicholas G.
Sudlow, C.
Thaung, C.
Thomas, D.
Trucco, E.
Tufail, A.
Vernon, S.
Viswanathan, A.
Williams, C.
Williams, K.
Woodside, J.
Yates, M.
Yip, J.
Zheng, Y.
Tapp, R.
Atan, D.
Doney, A.
allen, N.
Littlejohns, T.
Sergouniotis, P.
Black, G.
Kanyaro, N.
Ntomoka, C.
Massaga, J.J.
Ikungura, J.K.
Agee, M.
Aslibekyan, S.
Bell, R.K.
Bryc, K.
Clark, S.K.
Elson, S.L.
Fletez-Brant, K.
Fontanillas, P.
Furlotte, N.A.
Gandhi, P.M.
Heilbron, K.
Hicks, B.
Hinds, D.A.
Huber, K.E.
Jewett, E.M.
Jiang, Y.
Kleinman, A.
Lin, K.-H.
Litterman, N.K.
McCreight, J.C.
McIntyre, M.H.
McManus, K.F.
Mountain, J.L.
Mozaffari, S.V.
Nandakumar, P.
Noblin, E.S.
Northover, C.A.M.
O’Connell, J.
Pitts, S.J.
Poznik, G.D.
Sathirapongsasuti, J.F.
Shastri, A.J.
Shelton, J.F.
Shringarpure, S.
Tian, C.
Tung, J.Y.
Tunney, R.J.
Vacic, V.
Zare, A.S.
Tamiya, Gen
Shiga, Yukihiro
Yamamoto, Masayuki
Nakazawa, Toru
Currant, Hannah
Birney, Ewan
Wang, Xin
Auton, Adam
Lupton, Michelle K.
Martin, Nicholas G.
Ashaye, Adeyinka
Olawoye, Olusola
Williams, Susan E.
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.
Issue Date: 24-Feb-2021
Publisher: Nature Research
Citation: Gharahkhani, 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. Cooke, Fingert, J.H., Gaasterland, D., Gaasterland, T., Haines, Jonathan L., Hauser, Michael, Lee, R.K., Lichter, P.R., Liu, Y., Moroi, S., Myers, J., Pericak-Vance, M., Realini, A., Rhee, D., Richards, J.E., Ritch, R., Schuman, J.S., Scott, W.K., Singh, K., Sit, A.J., Vollrath, D., Weinreb, R.N., Wollstein, G., Zack, D.J., Sharma, S., Martin, S., Zhou, T., Souzeau, E., Landers, J., Fitzgerald, J.T., Mills, R.A., Craig, Jamie E., Burdon, K., Graham, S.L., Casson, R.J., Goldberg, I., White, A.J., Healey, P.R., Mackey, David A., Hewitt, Alex W., Shiono, M., Misumi, K., Kaieda, R., Harada, H., Minami, S., Emi, M., Emoto, N., Daida, H., Miyauchi, K., Murakami, A., Asai, S., Moriyama, M., Takahashi, Y., Fujioka, T., Obara, W., Mori, S., Ito, H., Nagayama, S., Miki, Y., Masumoto, A., Yamada, A., Nishizawa, Y., Kodama, K., Kutsumi, H., Sugimoto, Y., Koretsune, Y., Kusuoka, H., Yanaiag, H., Nagai, A., Hirata, M., Kamatani, Yoichiro, Muto, K., Matsuda, K., Kiyohara, Y., Ninomiya, T., Tamakoshi, A., Yamagata, Z., Mushiroda, T., Murakami, Y., Yuji, K., Furukawa, Y., Zembutsu, H., Tanaka, T., Ohnishi, Y., Nakamura, Y., Jalanko, A., Kaprio, J., Donner, K., Kaunisto, M., Mars, N., Dada, A., Shcherban, A., Ganna, A., Lehisto, A., Kilpeläinen, E., Brein, G., Awaisa, G., Harju, J., Pärn, K., Della Briotta Parolo, P., Kajanne, R., Lemmelä, S., Sipilä, T.P., Sipilä, T., Lyhs, U., Llorens, V., Niiranen, T., Kristiansson, K., Männikkö, L., Jiménez, M.G., Perola, M., Wong, R., Kilpi, T., Hiekkalinna, T., Järvensivu, E., Kaiharju, E., Mattsson, H., Laukkanen, M., Laiho, P., Lähteenmäki, S., Sistonen, T., Soini, S., Ziemann, A., Lehtonen, A., Lertratanakul, A., Georgantas, B., Riley-Gillis, B., Quarless, D., Rahimov, F., Heap, G., Jacob, H., Waring, J., Davis, J.W., Smaoui, N., Popovic, R., Esmaeeli, S., Waring, J., Matakidou, A., Challis, B., Close, D., Petrovski, S., Karlsson, A., Schleutker, J., Pulkki, K., Virolainen, P., Kallio, L., Mannermaa, A., Heikkinen, S., Kosma, V.-M., Chen, C.-Y., Runz, H., Liu, J., Bronson, P., John, S., Lahdenperä, S., Eaton, S., Zhou, W., Hendolin, M., Tuovila, O., Pakkanen, R., Maranville, J., Usiskin, K., Hochfeld, M., Plenge, R., Yang, R., Biswas, S., Greenberg, S., Laakkonen, E., Kononen, J., Paloneva, J., Kujala, U., Kuopio, T., Laukkanen, J., Kangasniemi, E., Savinainen, K., Laaksonen, R., Arvas, M., Ritari, J., Partanen, J., Hyvärinen, K., Wahlfors, T., Peterson, A., Oh, D., Chang, D., Teng, E., Strauss, E., Kerchner, G., Chen, H., Chen, H., Schutzman, J., Michon, J., Hunkapiller, J., McCarthy, M., Bowers, N., Lu, T., Bhangale, T., Pulford, D., Waterworth, D., Kulkarni, D., Xu, F., Betts, J., Gordillo, J.E., Hoffman, J., Auro, K., McCarthy, L., Ghosh, S., Ehm, M., Pitkänen, K., Mäkelä, T., Loukola, A., Joensuu, H., Sinisalo, J., Eklund, K., Aaltonen, L., Färkkilä, M., Carpen, O., Kauppi, P., Tienari, P., Ollila, T., Tuomi, T., Meretoja, T., Pitkäranta, A., Turunen, J., Hannula-Jouppi, K., Pikkarainen, S., Seitsonen, S., Koskinen, M., Palomäki, A., Rinne, J., Metsärinne, K., Elenius, K., Pirilä, L., Koulu, L., Voutilainen, M., Juonala, M., Peltonen, S., Aaltonen, V., Loboda, A., Podgornaia, A., Chhibber, A., Chu, A., Fox, C., Diogo, D., Holzinger, E., Eicher, J., Gormley, P., Mehta, V., Wang, Xin, Kettunen, J., Pylkäs, K., Kalaoja, M., Karjalainen, M., Hinttala, R., Kaarteenaho, R., Vainio, S., Mantere, T., Remes, A., Huhtakangas, J., Junttila, J., Tasanen, K., Huilaja, L., Luodonpää, M., Hautala, N., Karihtala, P., Kauppila, S., Harju, T., Blomster, T., Soininen, H., Harvima, I., Pihlajamäki, J., Kaarniranta, K., Pelkonen, M., Laakso, M., Hiltunen, M., Kiviniemi, M., Kaipiainen-Seppänen, O., Auvinen, P., Kälviäinen, R., Julkunen, V., Malarstig, A., Hedman, Å., Marshall, C., Whelan, C., Lehtonen, H., Parkkinen, J., Linden, K., Kalpala, K., Miller, M., Bing, N., McDonough, S., Chen, X., Hu, X., Wu, Y., Auranen, A., Jussila, A., Uusitalo-Järvinen, H., Kankaanranta, H., Uusitalo, H., Peltola, J., Kähönen, M., Isomäki, P., Laitinen, T., Salmi, T., Muslin, A., Wang, C., Chatelain, C., Xu, E., Auge, F., Call, K., Klinger, K., Crohns, M., Gossel, M., Palin, K., Rivas, M., Siirtola, H., Tabuenca, J.G., Aslam, T., Barman, S., Barrett, J., Bishop, P., Bunce, C., Carare, R., Chakravarthy, U., Chan, M., Cipriani, V., Day, A., Desai, P., Dhillon, B., Dick, A., Egan, C., Ennis, S., Foster, Paul J., Fruttiger, M., Gallacher, J., Garway-Heath, D., Gibson, J., Gore, D., Guggenheim, J., Hardcastle, A., Harding, S., Hogg, R., Keane, P.A., Khaw, Peng T., Khawaja, Anthony P., Lascaratos, G., Lotery, Andrew J., Luthert, P., Macgillivray, T., Mackie, S., Mcguinness, B., Mckay, G., Mckibbin, M., Mitry, D., Moore, T., Morgan, James E., Muthy, Z., O’Sullivan, E., Owen, C., Patel, P., Paterson, E., Peto, T., Petzold, A., Rahi, J., Rudnicka, A., Self, J., Sivaprasad, S., Steel, D., Stratton, I., Strouthidis, Nicholas G., Sudlow, C., Thaung, C., Thomas, D., Trucco, E., Tufail, A., Vernon, S., Viswanathan, A., Williams, C., Williams, K., Woodside, J., Yates, M., Yip, J., Zheng, Y., Tapp, R., Atan, D., Doney, A., allen, N., Littlejohns, T., Sergouniotis, P., Black, G., Kanyaro, N., Ntomoka, C., Massaga, J.J., Ikungura, J.K., Agee, M., Aslibekyan, S., Bell, R.K., Bryc, K., Clark, S.K., Elson, S.L., Fletez-Brant, K., Fontanillas, P., Furlotte, N.A., Gandhi, P.M., Heilbron, K., Hicks, B., Hinds, D.A., Huber, K.E., Jewett, E.M., Jiang, Y., Kleinman, A., Lin, K.-H., Litterman, N.K., McCreight, J.C., McIntyre, M.H., McManus, K.F., Mountain, J.L., Mozaffari, S.V., Nandakumar, P., Noblin, E.S., Northover, C.A.M., O’Connell, J., Pitts, S.J., Poznik, G.D., Sathirapongsasuti, J.F., Shastri, A.J., Shelton, J.F., Shringarpure, S., Tian, C., Tung, J.Y., Tunney, R.J., Vacic, V., Zare, A.S., Tamiya, Gen, Shiga, Yukihiro, Yamamoto, Masayuki, Nakazawa, Toru, Currant, Hannah, Birney, Ewan, Wang, Xin, Auton, Adam, Lupton, Michelle K., Martin, Nicholas G., Ashaye, Adeyinka, Olawoye, Olusola, Williams, Susan E., 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
Rights: Attribution 4.0 International
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. © 2021, The Author(s).
Source Title: Nature Communications
URI: https://scholarbank.nus.edu.sg/handle/10635/232760
ISSN: 2041-1723
DOI: 10.1038/s41467-020-20851-4
Rights: Attribution 4.0 International
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