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Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process [PDF]
, 2014 Glaucoma is characterized by irreversible optic nerve degeneration and is the most frequent cause of irreversible blindness worldwide. Here, the International Glaucoma Genetics Consortium conducts a meta-analysis of genome-wide association studies of ...Springelkamp, H, Scott, WK, Sit, Arthur J., Wong, T.-Y, Janssen, Sarah, Rivadeneira Ramirez, F. (Fernando), Wiggs, J.L. (Janey), Pearson, Richard, Nag, Abhishek, Xu, L, Wang, Jie Jin, Viswanathan, Ananth C., Montgomery, G.W. (Grant), Amin, Najaf, Scott, R. (Rodney), Iglesias, Adriana I., Amin, N. (Najaf), Rautanen, A, Gray, E, Viswanathan, A.C. (Ananth), Koolwijk, Leonieke, Rochtchina, Elena, Mountain, Jenny E, Pasquale, L.R., Zack, DJ, MacGregor, S, Despriet, Dominiek D G, Hammond, C.J, Luo, X.Y., Ramdas, WD, Palmer, Colin N. A., Jayakumar, A, Edkins, Sarah, Waller, Matthew, Verhoeven, V.J.M. (Virginie), Van Leeuwen, EM, Hauser, Michael A., Hammond, Naomi, Wiggs, Janey L., Liu, Y, Lemij, H.G, Uitterlinden, André G, Pearson, R, Hysi, Pirro G., Kang, JH, Viswanathan, Ananth, Gibson, Jane, Su, Zhan, Thorleifsson, G. (Gudmar), Verhoeven, Virginie; id_orcid, Viswanathan, A.C., Springelkamp, Henriët., Zack, Donald J., Stefansson, K, Mountain, J.E, Donnelly, P, Tai, E.S., Sanfilippo, P.G, Lemij, H.G., Leeuwen, E.M. van, Wang, JJ, Uitterlinden, AG, Potter, Simon C., Hofman, A., Weston, P, Allingham, R. Rand, Cree, Angela J, Nongpiur, Monisha E, Springelkamp, H., Hysi, PG, Tai, ES, Fingert, John, Zhang, K, Schillert, A., Sanfilippo, PG, Friedman, David S., Bramon, E, Jonas, JB, Mirshahi, A., Pirinen, Matti, Rivadeneira, F, Hysi, P.G, Janssen, S.F, Menon, G, Baird, PN, Hellenthal, Garrett, Haines, J.L, Loon, Seng-Chee, Verhoeven, V.J.M., Jonasson, F., Jonsson, V. (Vesteinn), Mountain, Jenny E., Jonasson, Fridbert, Baird, P.N. (Paul), Sanfilippo, Paul Gerard, Ennis, S. (Sarah), Bumpstead, Suzannah J., Spector, Tim, Gaasterland, T, van Koolwijk, Leonieke ME, Cheng, Ching-Yu, Lu, Y., Christen, WG, Mackey, DA, De Jong, PTVM, Friedman, DS, Pfeiffer, Norbert, Cooke-Bailey, Jessica N, Haines, Jonathan L., Khor, CC, ?, ?, Hewitt, AW, Hysi, Pirro, Langford, C, Despriet, DDG, Budenz, Donald L., NEIGHBORHOOD Consortium, Zwart, J-A. (John-Anker), Landers, J, Duijn, Cornelia, Cooke Bailey, Jessica, Mackey, D.A. (David), Sim, Kar-Seng, Weinreb, Robert Neal, Gharahkhani, P, Loon, Seng Chee, Wood, N.W, Leeuwen, E.M. (Elisa) van, Blue Mt Eye Study GWAS Grp, Lee, RK, Allingham, R.R, Hewitt, A.W, Widaa, S, Attia, John, Freeman, Colin, Brown, M.A, Verhoeven, Virginie J M, Saw, SM, Loomis, Stephanie, Khor, Chiea Chuen, Venturini, Cristina, Zack, D.J, Spencer, Chris C. A., Mishra, Aniket, Janssen, S.F., Gray, Emma, Van Koolwijk, LME, Markus, H.S, Kang, J.H, Lotery, Andrew J., Kang, Jae Hee, Jansonius, N.M., Brown, MA, Wellcome Trust Case Control Consortium 2 (WTCCC2), Bailey, JNC, Pfeiffer, N, Bailey, J.N.C, Janssen, S.F. (Sarah), Sim, KS, Lu, Yi, Mountain, JE, Wiggs, J.L., other, and, Bailey, Jessica N. Cooke, Loomis, Stephanie J, Nongpiur, M.E. (Monisha E.), Aung, T. (Tin), Craig, J.E., Mishra, A, Koolwijk, L.M.E. (Leonieke) van, Wolfs, R.C.W., Wiggs, J.L, Jonas, J.B., Lotery, A.J. (Andrew), Holliday, Elizabeth G., Vingerling, Johannes R., Loomis, Stephanie J., van Koolwijk, Leonieke M. E., Hammond, Christopher J., Gibson, J., Bergen, A.A.B., Ricketts, M, Potter, S.C, Despriet, D.D.G. (Dominique), Kang, J.H. (Jae), Jansonius, Nomdo M.; id_orcid, Singh, K, Khor, Chiea-Chuen, Mishra, A. (Aniket), Lu, Y. (Yi), Verhoeven, VJM, Lichter, P.R, Blue Mountains Eye Study-GWAS groupw, Montgomery, G, Kang, J.H., Sim, K.S., Xie, J. (Jing), Brilliant, M.H, Wang, J.J. (Jie Jin), Gaasterland, Terry, Lee, Richard K., Edkins, S, Duijn, C.M. van, Luo, Xiaoyan, Scott, R, Pasquale, Louis, Fingert, J, Sit, A.J, Saw, S-M. (Seang-Mei), Uitterlinden, A.G. (André), Xu, L. (Liang), Realini, Anthony, van Leeuwen, Elisabeth M, Widaa, Sara, Burdon, Kathryn P, Xie, J, Haines, J.L., Klaver, C.C.W, Bergen, AAB, Wong, TY (Tien Yin), Klaver, Caroline C W, Viswanathan, Ananth C, Janssen, Sarah F, Weinreb, Robert N, Despriet, Dominiek, Loomis, SJ, Koolwijk, L.M.E. van, Ramdas, Wishal, Klaver, C.C.W. (Caroline), Karssen, Lennart, Verhoeven, Virginie J. M., Schuman, Joel S., Jonasson, F. (Fridbert), Dronov, S, Brilliant, MH, Aung, T, Karssen, Lennart C., Plomin, R, Uitterlinden, André G., Teo, Yik-Ying, Baird, Paul N., Hammond, C.J. (Christopher), Data and Analysis Group, Sim, Kar Seng, Casas, JP, Mathew, Christopher G., Mitchell, P. (Paul), Nag, A, Loomis, S.J. (Stephanie J.), Spencer, C.C.A, Bramon, Elvira, Plomin, Robert, Mackey, D.A., Thorsteinsdottir, U, Whittaker, P, Jonas, Jost B., van Duijn, Cornelia M., Burdon, K.P, Schillert, A, Band, Gavin, Nag, A. (Abhishek), Strange, A, Thorsteinsdottir, U. (Unnur), Vingerling, Hans, Bailey, Jessica N Cooke, Montgomery, GrantW., Menon, G. (Geeta), Wiggs, Janey, Casas, Juan P., Holliday, E.G, Deloukas, Panos, Khor, C.-C, Hauser, Michael A, Rochtchina, E. (Elena), Young, T.L. (Terri), Sim, X. (Xueling), Gharahkhani, P., Hammond, N, Brown, Matthew, Souzeau, Emmanuelle, Craig, J.E. (Jamie), Wang, J.J, Nongpiur, M.E., Hellenthal, G, Gaasterland, Douglas, Barroso, Ines, Craig, Jamie E., Oostra, B.A. (Ben), Sim, K.-S, Vollrath, Douglas, Wollstein, Gadi, Oostra, BA, Klaver, C.C.W., Band, G, Hofman, Albert, Palmer, CNA, Despriet, Dominiek D.G., Oostra, Ben A, Sanfilippo, P.G. (Paul G.), Lee, R.K, Viswanathan, AC, Höhn, R. (René), Christen, W.G, Wollstein, G, Schillert, Arne, Gharahkhani, Puya, Bergen, Arthur A. B., Pasquale, LR, Ramdas, W.D., Bergen, Arthur AB, Spector, T.D, Aung, Tin, Pfeiffer, N., Wiggs, Janey L, Xie, Jing, Leeuwen, Elisa, Spector, TD, Corvin, Aiden, Blue Mountains Eye Study—GWAS group, Iglesias, AI, Jonas, J.B. (Jost B.), Karssen, L.C. (Lennart), Lotery, A.J., Wolfs, Roger CW, Wiggs, JL, Baird, P.N, Pasquale, L.R, Young, TL, Ennis, S, Landers, John, Spector, Timothy D, Duijn, C.M. (Cornelia) van, Venturini, C., Cree, A.J, Teo, Yik Ying, Schillert, A. (Arne), Janssen, Sarah F., Pasquale, Louis R., Schuman, JS, Young, T.L, Young, Terri L, Jonsson, V., Lu, Y (Yi), Inouye, M. (Michael), Weinreb, RN, Sit, AJ, Wellcome Trust Case Control Consortium 2, Nag, A., Verhoeven, Virginie, Khor, C.C., Lichter, Paul R., Gharahkhani, P. (Puya), Despriet, Dominiek D. G., Pasquale, Louis R, Deloukas, P, Lotery, AJ, Despriet, D.D.G., Weinreb, R.N., Van Leeuwen, E.M, Nongpiur, Monisha E., Klaver, Caroline C. W., Sim, Xueling, Hysi, P.G., Casas, J.P, Publications Committee, Springelkamp, H. (Henriët), Menon, G., Liddle, Jennifer, Bergen, A.A.B. (Arthur), Whittaker, Pamela, Burdon, Kathryn Penelope, Lotery, A.J, Hammond, Christopher J, Sawcer, S.J, Saw, Seangmei, Despriet, D.D.G, Luo, X. (Xiaoyan), Hofman, Bert, Mishra, A., Vithana, E, Macgregor, Stuart, Lemij, HG, Wong, Tien-Yin, Corvin, A, Jonsson, Vesteinn, Souzeau, E. (Emmanuelle), Gillman, M, Burdon, K.P. (Kathryn), Jansonius, Nomdo M., Gwilliam, Rhian, Viswanathan, A.C, NEIGHBORHOOD Consortiumz, Wolfs, Roger C. W., Hauser, M.A., Wood, Nicholas W., Hauser, M.A, Young, Terri L., Cheng, C.Y., Ennis, S., Bellenguez, Céline, Luo, XY, Christen, William G., Karssen, Lennart C, Venturini, C. (Cristina), Gibson, J. (Jane), Loon, S.C., Van Koolwijk, L.M.E, Vithana, Eranga, Vollrath, D, Mountain, J.E., Jonasson, F, Budenz, DL, Wong, Tien Yin, Cooke Bailey, Jessica N., Uitterlinden, André, Ramdas, W.D, Kraft, P, Blackwell, Jenefer M., Moroi, Sayoko E., Teo, YY, Duncanson, A, Scott, W.K, Hewitt, A.W., Mitchell, Paul, Jansonius, N.M. (Nomdo), Verhoeven, Virginie J.M., Holliday, EG, Mackey, David A, Barroso (Deputy Chair), Ines, Rivadeneira, Fernando, Budenz, D.L, Bailey, J.N.C. (Jessica N. Cooke), Vingerling, J.R. (Hans), Cree, A.J. (Angela), Pfeiffer, A.F.H. (Andreas), Blackburn, Hannah, Höhn, René, Loon, S.-C. (Seng-Chee), Despriet, Dominiek DG, Ravindrarajah, Radhi, Lemij, H.G. (Hans), van Koolwijk, Leonieke M.E., Vukcevic, D, Springelkamp, Henriët, Mathew, C.G, Pericak-Vance, Margaret A., McCann, Owen T., Gwilliam, R, Sawcer, Stephen J., Haines, Jonathan L, Teo, Y.Y., Klaver, Caroline CW, Hohn, R., Loon, SC, Cree, A.J., Jansonius, Nomdo M, Strange, Amy, Friedman, D.S, Hauser, MA, Wolfs, R.C.W, Thorsteinsdottir, Unnur, Sim, X, Langford, Cordelia, Brilliant, Murray H., Pericak-Vance, M.A, Teo, Y.Y. (Yik Ying), Mackey, David A., Xu, L., Stefansson, K., Markus, HS, Weinreb, R.N. (Robert N.), Liddle, J, Spector, Timothy D., Vingerling, J.R, Macgregor, S., Verhoeven, Virginie JM, de Jong, Paulus T. V. M., Jonas, Jost B, Oostra, B.A, Jansonius, N.M, Ramdas, Wishal D, Wellcome Trust Case Control Consor, Pasquale, L.R. (Louis), Dronov, Serge, Wolfs, R.C.W. (Roger), Lotery, Andrew J, Cheng, CY (Ching-Yu), Richards, Julia E., Hysi, Pirro G, Ramdas, Wishal D., Thorleifsson, G, Cree, AJ, Hewitt, Alex W., McCann, O.T, de Jong, Paulus T V M, Iglesias, Adriana, Nongpiur, M.E, Burdon, K.P., Uitterlinden, André; id_orcid, Palmer, C.N.A, Blue Mountains Eye Study-GWAS Gp, Montgomery, Grant W, Montgomery, GW, Rivadeneira, F., Ramdas, W.D. (Wishal), Janssen, SF, Gibson, J, Waller, M, Mathew, CG, Iglesias, A.I., Cheng, C-Y. (Ching-Yu), Sanfilippo, P.G., Donnelly, Peter, Montgomery, G., Amin, N, Stefansson, Kari, Hysi, P.G. (Pirro), Hunt, S.E, DNA, Genotyping, Data QC and Informatics Group, Bergen, Arthur A B, Spector, T.D. (Timothy), Gillman, Matthew, Kraft, Peter, Wong, T.Y., Mirshahi, A, Attia, J, Pericak-Vance, MA, Trembath, Richard C., Saw, S.-M, Vingerling, J.R., Hofman, A. (Albert), Pirinen, M, Haines, JL, Realini, A, van Leeuwen, Elisabeth M., Richards, J.E, Jong, P.T.V.M. de, Montgomery, G.W, Hammond, C.J., Landers, J., Ravindrarajah, R, Cheng, C.-Y, Cree, Angela J., Vukcevic, Damjan, Kang, Jae H, Blackwell, JM, Viswanathan, A, Teo, Y.-Y, Gaasterland, D, Inouye, Michael, Inouye, M, Jonsson, V, Thorsteinsdottir, U., Hammond, CJ, Weinreb, Robert N., Su, Z, Zhang, Kang, Liu, Yutao, Moroi, S.E, Kang, Jae H., Vithana, E.N. (Eranga), Scott, William K., Weston, Paul, Karssen, LC, Schuman, J.S, Mitchell, P, Holliday, E.G. (Elizabeth), Jonas, J.B, Sanfilippo, Paul G, Thorleifsson, G., Hoehn, René, Saw, Seang-Mei, Uitterlinden, A.G., Lu, Y, Lemij, Hans G, De Jong, P.T.V.M, Rautanen, Anna, Rochtchina, E, Aung, T., Thorleifsson, Gudmar, Jankowski, Janusz, Freeman, C, Amin, N., Oostra, Ben A., Oostra, B.A., Vingerling, Johannes R, Montgomery, Grant W., Xu, Liang, Bailey, J.N.C., Barroso, I, Allingham, RR, Brown, Matthew A., Moroi, SE, Blackburn, H, Scott, Rodney, Burdon, Kathryn P., Hewitt, Alex W, Giannoulatou, E, Oostra, Ben, Bumpstead, S.J, Landers, J. (John), Tai, E.S. (Shyong), Karssen, L.C., Mirshahi, A. (Alireza), Jong, P.T.V.M. (Paulus) de, Donnelly (Chair), Peter, Vithana, E., Craig, JE, Hauser, M.A. (Michael), Spector, T.D., Burdon, KP, Young, T.L., MacKey, D.A, Ennis, Sarah, Giannoulatou, Eleni, Sanfilippo, Paul G., Van Duijn, C.M, Bergen, Arthur A B B, Hofman, A, Mirshahi, Alireza, Wolfs, Roger C W, Tai, E-Shyong, Souzeau, E, Duncanson, Audrey, de Jong, Paulus TVM, Markus, Hugh S., Loomis, S.J, Menon, Geeta, Jankowski, J, Craig, Jamie E, Attia, J. (John), Venturini, C, Bergen, A.A.B, Jansonius, NM (Nomdo), Mountain, J.E. (Jenny E.), Singh, Kuldev, Weinreb, R.N, Iglesias González, A.I. (Adriana), Verhoeven, V.J.M, Iglesias, A.I, Tai, E.-S, Loomis, S.J., MacGregor, S. (Stuart), Karssen, L.C, van Koolwijk, Leonieke M E, Blackwell, J.M, Klaver, Caroline, Höhn, R, Souzeau, E., Mathew (Chair), Christopher G., van Duijn, Cornelia M, Jayakumar, Alagurevathi, Richards, JE, Bellenguez, C, Nongpiur, ME, Lichter, PR, Luo, X, Ricketts, Michelle, Craig, J.E, Loon, S.-C, Lemij, Hans G., Hunt, Sarah E., Wong, T.Y. (Tien Yin), Uitterlinden, A.G, Iglesias, Adriana I, Hewit, A.W. (Alex), Trembath, R.C, Saw, S.M. +667 morecore +6 more sourcesLarge‐scale Whole‐Exome Sequencing Defines the Protein‐Coding Architecture of Retinal Structure, Visual Function, and Major Blinding Diseases
Advanced Science, EarlyView.Large‐scale whole‐exome sequencing in 356,982 UK Biobank participants defines the protein‐coding architecture of retinal structure, visual function, and major blinding diseases. Pleiotropic genes, including CFI, C3, and RIOX1, bridge multiple retinal phenotypes, while experimental validation of FYB2 implicates RPE barrier dysfunction, providing ...Jianqing Li, Yijun Ge, Jingxiao Du, Liu Yang, Bangsheng Wu, Chenyue Hang, Mengxi Shen, Yimin Mao, Ting Zhang, Qiyu Bo, Tianyuan Zhao, Yutian Jiao, Yazhi Wang, Shunxiang Gao, Jieqiong Chen, Junran Sun, Tong Li, Huixun Jia, Yang Dou, Wei Cheng, Xiaoling Wan, Jintai Yu, Xiaodong Sun, Bai Lu +23 morewiley +1 more sourceGWAS-by-subtraction reveals an IOP-independent component of primary open angle glaucoma
Nature CommunicationsThe etiology of primary open angle glaucoma is constituted by both intraocular pressure-dependent and intraocular pressure-independent mechanisms.Yu Huang, Denis Plotnikov, Huan Wang, Danli Shi, Cong Li, Xueli Zhang, Xiayin Zhang, Shulin Tang, Xianwen Shang, Yijun Hu, Honghua Yu, Hongyang Zhang, Jeremy A. Guggenheim, Mingguang He +13 moredoaj +1 more sourceIn Situ Photo‑Crosslinked Functional Bilayer Hydrogel Modulates Local Microenvironment and Remyelination After Optic Nerve Injury
Advanced Science, EarlyView.A blue‐light‐crosslinked bilayer hydrogel was developed for local optic nerve repair. The adhesive GM‐Odex outer layer seals and anchors the lesion, while the non‐adhesive GM‐imid inner layer releases MPDA‐Cle without obstructing CSF flow. This system modulates oxidative and inflammatory microenvironments, supports oligodendrocyte differentiation and ...Tonghe Pan, Yate Huang, Junhao Zhang, Shudong Tian, Zhixing Li, Xuanwen Li, Yanchen Zhang, Dongmei Wang, Sihao Ye, Ming Jin, Neng Ling, Wentao Yan, Kaihui Nan, Wencan Wu +13 morewiley +1 more sourceOPA1 increases the risk of normal but not high tension glaucoma
, 2010 Background Primary open angle glaucoma is a progressive optic neuropathy characterised by the selective loss of retinal ganglion cells, pathological optic disc cupping and visual field defects.Griffiths, P. G., Birch, M. K., Andrews, R. M., Chinnery, P. F., Hudson, G., Yu-Wai-Man, P., Stewart, J .D. +6 morecore +1 more sourceThe medical management of glaucoma
South African Family Practice, 2017 Glaucoma is one of the leading causes of blindness worldwide. The main characteristic features include optic disc cupping, visual field loss, and in most instances a raised intraocular pressure.André Marais, Elzbieta Osuchdoaj +1 more source
