Mitochondrial DNA variants of respiratory complex I that uniquely characterize haplogroup T2 are associated with increased risk of age-related macular degeneration

by SanGiovanni J.P., Arking D.E., Iyengar S.K., Elashoff M., Clemons T.E., Reed G.F., Henning A.K., Sivakumaran T.A., Xu X., DeWan A., Agr髇 E., Rochtchina E., Sue C.M., Wang J.J., Mitchell P., Hoh J., Francis P.J., Klein M.L., Chew E.Y., Chakravarti A.
Published 2019

A 32 kb critical region excluding Y402H in CFH mediates risk for age-related macular degeneration

by Sivakumaran, T.A., Igo Jr., R.P., Kidd, J.M., Itsara, A., Kopplin, L.J., Chen, W., Hagstrom, S.A., Peachey, N.S., Francis, P.J., Klein, M.L., Chew, E.Y., Ramprasad, V.L., Tay, W.-T., Mitchell, P., Seielstad, M., Stambolian, D.E., Edwards, A.O., Lee, K.E., Leontiev, D.V., Jun, G., Wang, Y., Tian, L., Qiu, F., Henning, A.K., LaFramboise, T., Sen, P., Aarthi, M., George, R., Raman, R., Das, M.K., Vijaya, L., Kumaramanickavel, G., Wong, T.Y., Swaroop, A., Abecasis, G.R., Klein, R., Klein, B.E.K., Nickerson, D.A., Eichler, E.E., Iyengar, S.K.
Published 2014

Meta-analysis of genome-wide association studies in five cohorts reveals common variants in RBFOX1, a regulator of tissue-specific splicing, associated with refractive error

by Stambolian, D., Wojciechowski, R., Oexle, K., Pirastu, M., Li, X., Raffe, L.J., Cotch, M.F., Chew, E.Y., Klein, B., Klein, R., Wong, T.Y., Simpson, C.L., Klaver, C.C.W., van Duijn, C.M., Verhoeven, V.J.M., Baird, P.N., Vitart, V., Paterson, A.D., Mitchell, P., Saw, S.M., Fossarello, M., Kazmierkiewicz, K., Murgia, F., Portas, L., Schache, M., Richardson, A., Xie, J., Wang, J.J., Rochtchina, E., Viswanathan, A.C., Hayward, C., Wright, A.F., Polašek, O., Campbell, H., Rudan, I., Oostra, B.A., Uitterlinden, A.G., Hofman, A., Rivadeneira, F., Amin, N., Karssen, L.C., Vingerling, J.R., Hosseini, S.M., Döring, A., Bettecken, T., Vatavuk, Z., Gieger, C., Wichmann, H.-E., Wilson, J.F., Fleck, B., Foster, P.J., Topouzis, F., McGuffin, P., Sim, X., Inouye, M., Holliday, E.G., Attia, J., Scott, R.J., Rotter, J.I., Meitinger, T., Bailey-Wilson, J.E.
Published 2014

Common variants in SOX-2 and congenital cataract genes contribute to age-related nuclear cataract

by Yonova-Doing, E., Zhao, W., Igo, R.P., Wang, C., Sundaresan, P., Lee, K.E., Jun, G.R., Alves, A.C., Chai, X., Chan, A.S.Y., Lee, M.C., Fong, A., Tan, A.G., Khor, C.C., Chew, E.Y., Hysi, P.G., Fan, Q., Chua, J., Chung, J., Liao, J., Colijn, J.M., Burdon, K.P., Fritsche, L.G., Swift, M.K., Hilmy, M.H., Chee, M.L., Tedja, M., Bonnemaijer, P.W.M., Gupta, P., Tan, Q.S., Li, Z., Vithana, E.N., Ravindran, R.D., Chee, S.-P., Shi, Y., Liu, W., Su, X., Sim, X., Shen, Y., Wang, Y.X., Li, H., Tham, Y.-C., Teo, Y.Y., Aung, T., Small, K.S., Mitchell, P., Jonas, J.B., Wong, Tien Yin, Fletcher, A.E., Klaver, C.C.W., Klein, B.E.K., Wang, J.J., Iyengar, S.K., Hammond, C.J., Cheng, C.-Y.
Published 2021

Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error

by Cheng, C.-Y., Schache, M., Ikram, M.K., Young, T.L., Guggenheim, J.A., Vitart, V., MacGregor, S., Verhoeven, V.J.M., Barathi, V.A., Liao, J., Hysi, P.G., Bailey-Wilson, J.E., St. Pourcain, B., Kemp, J.P., McMahon, G., Timpson, N.J., Evans, D.M., Montgomery, G.W., Mishra, A., Wang, Y.X., Wang, J.J., Rochtchina, E., Polasek, O., Wright, A.F., Amin, N., Van Leeuwen, E.M., Wilson, J.F., Pennell, C.E., Van Duijn, C.M., De Jong, P.T.V.M., Vingerling, J.R., Zhou, X., Chen, P., Li, R., Tay, W.-T., Zheng, Y., Chew, M., Burdon, K.P., Craig, J.E., Iyengar, S.K., Igo Jr., R.P., Lass Jr., J.H., Chew, E.Y., Haller, T., Mihailov, E., Metspalu, A., Wedenoja, J., Simpson, C.L., Wojciechowski, R., Höhn, R., Mirshahi, A., Zeller, T., Pfeiffer, N., Lackner, K.J., Bettecken, T., Meitinger, T., Oexle, K., Pirastu, M., Portas, L., Nag, A., Williams, K.M., Yonova-Doing, E., Klein, R., Klein, B.E., Hosseini, S.M., Paterson, A.D., Makela, K.-M., Lehtimaki, T., Kahonen, M., Raitakari, O., Yoshimura, N., Matsuda, F., Chen, L.J., Pang, C.P., Yip, S.P., Yap, M.K.H., Meguro, A., Mizuki, N., Inoko, H., Foster, P.J., Zhao, J.H., Vithana, E., Tai, E.-S., Fan, Q., Xu, L., Campbell, H., Fleck, B., Rudan, I., Aung, T., Hofman, A., Uitterlinden, A.G., Bencic, G., Khor, C.-C., Forward, H., Pärssinen, O., Mitchell, P., Rivadeneira, F., Hewitt, A.W., Williams, C., Oostra, B.A., Teo, Y.-Y., Hammond, C.J., Stambolian, D., MacKey, D.A., Klaver, C.C.W., Wong, T.-Y., Saw, S.-M., Baird, P.N.
Published 2014

Seven new loci associated with age-related macular degeneration

by Fritsche, L.G., Chen, W., Schu, M., Yaspan, B.L., Yu, Y., Thorleifsson, G., Zack, D.J., Arakawa, S., Cipriani, V., Ripke, S., Igo, R.P., Buitendijk, G.H.S., Sim, X., Weeks, D.E., Guymer, R.H., Merriam, J.E., Francis, P.J., Hannum, G., Agarwal, A., Armbrecht, A.M., Audo, I., Aung, T., Barile, G.R., Benchaboune, M., Bird, A.C., Bishop, P.N., Branham, K.E., Brooks, M., Brucker, A.J., Cade, W.H., Cain, M.S., Campochiaro, P.A., Chan, C.-C., Cheng, C.-Y., Chew, E.Y., Chin, K.A., Chowers, I., Clayton, D.G., Cojocaru, R., Conley, Y.P., Cornes, B.K., Daly, M.J., Dhillon, B., Edwards, A.O., Evangelou, E., Fagerness, J., Ferreyra, H.A., Friedman, J.S., Geirsdottir, A., George, R.J., Gieger, C., Gupta, N., Hagstrom, S.A., Harding, S.P., Haritoglou, C., Heckenlively, J.R., Holz, F.G., Hughes, G., Ioannidis, J.P.A., Ishibashi, T., Joseph, P., Jun, G., Kamatani, Y., Katsanis, N., N Keilhauer, C., Khan, J.C., Kim, I.K., Kiyohara, Y., Klein, B.E.K., Klein, R., Kovach, J.L., Kozak, I., Lee, C.J., Lee, K.E., Lichtner, P., Lotery, A.J., Meitinger, T., Mitchell, P., Mohand-Saïd, S., Moore, A.T., Morgan, D.J., Morrison, M.A., Myers, C.E., Naj, A.C., Nakamura, Y., Okada, Y., Orlin, A., Ortube, M.C., Othman, M.I., Pappas, C., Park, K.H., Pauer, G.J.T., Peachey, N.S., Poch, O., Priya, R.R., Reynolds, R., Richardson, A.J., Ripp, R., Rudolph, G., Ryu, E., Sahel, J.-A., Schaumberg, D.A., Scholl, H.P.N., Schwartz, S.G., Scott, W.K., Shahid, H., Sigurdsson, H., Silvestri, G., Sivakumaran, T.A., Smith, R.T., Sobrin, L., Souied, E.H., Stambolian, D.E., Stefansson, H., Sturgill-Short, G.M., Takahashi, A., Tosakulwong, N., Truitt, B.J., Tsironi, E.E., Uitterlinden, A.G., Van Duijn, C.M., Vijaya, L., Vingerling, J.R., Vithana, E.N., Webster, A.R., Wichmann, H.-E., Winkler, T.W., Wong, T.Y., Wright, A.F., Zelenika, D., Zhang, M., Zhao, L., Zhang, K., Klein, M.L., Hageman, G.S., Lathrop, G.M., Stefansson, K., Allikmets, R., Baird, P.N., Gorin, M.B., Wang, J.J., Klaver, C.C.W., Seddon, J.M., Pericak-Vance, M.A., Iyengar, S.K., Yates, J.R.W., Swaroop, A., Weber, B.H.F., Kubo, M., Deangelis, M.M., Léveillard, T., Thorsteinsdottir, U., Haines, J.L., Farrer, L.A., Heid, I.M., Abecasis, G.R.
Published 2014

Genome-wide association meta-analysis of corneal curvature identifies novel loci and shared genetic influences across axial length and refractive error

by Fan, Q., Pozarickij, A., Tan, N.Y.Q., Guo, X., Verhoeven, V.J.M., Vitart, V., Guggenheim, J.A., Miyake, M., Tideman, J.W.L., Khawaja, A.P., Zhang, L., MacGregor, S., Höhn, R., Chen, P., Biino, G., Wedenoja, J., Saffari, S.E., Tedja, M.S., Xie, J., Lanca, C., Wang, Y.X., Sahebjada, S., Mazur, J., Mirshahi, A., Martin, N.G., Yazar, S., Pennell, C.E., Yap, M., Haarman, A.E.G., Enthoven, C.A., Polling, J.R., Bailey-Wilson, J.E., Veluchamy, A.B., Burdon, K.P., Campbell, H., Chen, L.J., Chew, E.Y., Craig, J.E., Cumberland, P.M., Deangelis, M.M., Delcourt, C., Ding, X., Evans, D.M., Gharahkhani, P., Iglesias, A.I., Haller, T., Han, X., Hoang, Q., Igo, R.P., Iyengar, S.K., Kähönen, M., Kaprio, J., Klein, B.E., Klein, R., Lass, J.H., Lee, K., Lehtimäki, T., Lewis, D.D., Li, Q., Li, S.-M., Lyytikäinen, L.-P., Meguro, A., Metspalu, A., Middlebrooks, C.D., Mizuki, N., Musolf, A.M., Nickels, S., Oexle, K., Pang, C.P., Paterson, A.D., Rahi, J.S., Raitakari, O., Rudan, I., Stambolian, D., Simpson, C.L., Wang, N., Bin Wei, W., Williams, K.M., Wilson, J.F., Wojciechowski, R., Yamashiro, K., Yam, J.C.S., Zhou, X., Aslam, T., Barman, S.A., Barrett, J.H., Bishop, P., Blows, P., Bunce, C., Carare, R.O., Chakravarthy, U., Chan, M., Chua, S.Y.L., Crabb, D.P., Cumberland, P.M., Day, A., Desai, P., Dhillon, B., Dick, A.D., Egan, C., Ennis, S., Fruttiger, M., Gallacher, J.E.J., Garway-Heath, D.F., Gibson, J., Gore, D., Hardcastle, A., Harding, S.P., Hogg, R.E., Keane, P.A., Khaw, S.P.T., Lascaratos, G., Lotery, A.J., Macgillivray, T., Mackie, S., Martin, K., McGaughey, M., McGuinness, B., McKay, G.J., McKibbin, M., Mitry, D., Moore, T., Morgan, J.E., Muthy, Z.A., O’Sullivan, E., Owen, C.G., Patel, P., Paterson, E., Peto, T., Petzold, A., Rahi, J.S., Rudnikca, A.R., Self, J., Sivaprasad, S., Steel, D., Stratton, I., Strouthidis, N., Sudlow, C., Thomas, D., Trucco, E., Tufail, A., Vernon, S.A., Viswanathan, A.C., Williams, K., Woodside, J.V., Yates, M.M., Yip, J., Zheng, Y., Hewitt, A.W., Jaddoe, V.W.V., van Duijn, C.M., Hayward, C., Polasek, O., Tai, E.-S., Yoshikatsu, H., Hysi, P.G., Young, T.L., Tsujikawa, A., Wang, J.J., Mitchell, P., Pfeiffer, N., Pärssinen, O., Foster, P.J., Fossarello, M., Yip, S.P., Williams, C., Hammond, C.J., Jonas, J.B., He, M., Mackey, D.A., Wong, T.-Y., Klaver, C.C.W., Saw, S.-M., Baird, P.N., Cheng, C.-Y., Consortium for Refractive Error and Myopia (CREAM)., UK Biobank Eye and Vision Consortium.
Published 2021