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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 |
| Appears in Collections: | Elements Staff Publications |
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