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1. A Structural Approach to Growth-at-Risk

Author

Wojciechowski, Robert

Subjects
Economics - Econometrics
Abstract

We identify the structural impulse responses of quantiles of the outcome variable to a shock. Our estimation strategy explicitly distinguishes treatment from control variables, allowing us to model responses of unconditional quantiles while using controls for identification. Disentangling the effect of adding control variables on identification versus interpretation brings our structural quantile impulse responses conceptually closer to structural mean impulse responses. Applying our methodology to study the impact of financial shocks on lower quantiles of output growth confirms that financial shocks have an outsized effect on growth-at-risk, but the magnitude of our estimates is more extreme than in previous studies.

Published
2024

2. The Association of Urinary Sodium Excretion with Glaucoma and Related Traits in a Large United Kingdom Population

Author

Aschard, Hugues, Chia, Mark, Chua, Sharon, Do, Ron, Foster, Paul, Kang, Jae, Kastner, Alan, Khawaja, Anthony, Kim, Jihye, Lentjes, Marleen, Luben, Robert, Madjedi, Kian, Montesano, Giovanni, Pasquale, Louis, Stuart, Kelsey, Warwick, Alasdair, Wiggs, Janey, Allen, Naomi, Aslam, Tariq, Atan, Denize, Barman, Sarah, Barrett, Jenny, Bishop, Paul, Black, Graeme, Braithwaite, Tasanee, Carare, Roxana, Chakravarthy, Usha, Chan, Michelle, Day, Alexander, Desai, Parul, Dhillon, Bal, Dick, Andrew, Doney, Alexander, Egan, Cathy, Ennis, Sarah, Fruttiger, Marcus, Garway-Heath, David (Ted), Gibson, Jane, Guggenheim, Jeremy, Hammond, Chris, Hardcastle, Alison, Harding, Simon, Hogg, Ruth, Hysi, Pirro, Keane, Pearse, Khaw, Peng Tee, Lascaratos, Gerassimos, Littlejohns, Thomas, Lotery, Andrew, Luthert, Phil, MacGillivray, Tom, Mackie, Sarah, McGuinness, Bernadette, McKay, Gareth, McKibbin, Martin, Moore, Tony, Morgan, James, O'Sullivan, Eoin, Oram, Richard, Owen, Chris, Patel, Praveen, Paterson, Euan, Peto, Tunde, Petzold, Axel, Pontikos, Nikolas, Rahi, Jugnoo, Rudnicka, Alicja, Sattar, Naveed, Self, Jay, Sergouniotis, Panagiotis, Sivaprasad, Sobha, Steel, David, Stratton, Irene, Strouthidis, Nicholas, Sudlow, Cathie, Sun, Zihan, Tapp, Robyn, Thomas, Dhanes, Trucco, Emanuele, Tufail, Adnan, Viswanathan, Ananth, Vitart, Veronique, Weedon, Mike, Williams, Katie, Williams, Cathy, Woodside, Jayne, Yates, Max, Yip, Jennifer, Zheng, Yalin, Aung, Tin, Burdon, Kathryn, Chen, Li, Cheng, Ching-Yu, Craig, Jamie, Cree, Angela, de Vries, Victor, Driessen, Sjoerd, Fingert, John, Gharahkhani, Puya, Hammond, Christopher, Hayward, Caroline, Hewitt, Alex, Jansonius, Nomdo, Jonansson, Fridbert, Jonas, Jost, Kass, Michael, Khor, Chiea, Klaver, Caroline, Koh, Jacyline, MacGregor, Stuart, Mackey, David, Mitchell, Paul, Pang, Calvin, Pasutto, Francesca, Pfeiffer, Norbert, Polašek, Ozren, Ramdas, Wishal, Schuster, Alexander, Segrè, Ayellet, Stefansson, Einer, Stefánsson, Kári, Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, van Duijn, Cornelia, Vergroesen, Joëlle, Vithana, Eranga, Wilson, James, Wojciechowski, Robert, Wong, Tien, Young, Terri, Stuart, Kelsey V., Biradar, Mahantesh I., Luben, Robert N., Dhaun, Neeraj, Wagner, Siegfried K., Warwick, Alasdair N., Madjedi, Kian M., Pasquale, Louis R., Wiggs, Janey L., Kang, Jae H., Lentjes, Marleen A.H., Foster, Paul J., and Khawaja, Anthony P.

Published
2024
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3. Proof positive (joint live fire testing)

Author

Julian, Thomas A. and Wojciechowski, Robert, Lt

Subjects
WEAPON SYSTEMS - Testing - United States, TEST FACILITIES, EQUIPMENT - Armed Forces - United States - Testing
Abstract

illus

Published
1996

4. The Association of Alcohol Consumption with Glaucoma and Related Traits: Findings from the UK Biobank

Author

Aschard, Hugues, Chia, Mark, Chua, Sharon, Do, Ron, Foster, Paul, Kang, Jae, Kastner, Alan, Khawaja, Anthony, Kim, Jihye, Lentjes, Marleen, Luben, Robert, Madjedi, Kian, Montesano, Giovanni, Pasquale, Louis, Stuart, Kelsey, Warwick, Alasdair, Wiggs, Janey, Allen, Naomi, Aslam, Tariq, Atan, Denize, Barman, Sarah, Barrett, Jenny, Bishop, Paul, Black, Graeme, Braithwaite, Tasanee, Carare, Roxana, Chakravarthy, Usha, Chan, Michelle, Day, Alexander, Desai, Parul, Dhillon, Bal, Dick, Andrew, Doney, Alexander, Egan, Cathy, Ennis, Sarah, Fruttiger, Marcus, Gallacher, John, Garway-Heath, David (Ted), Gibson, Jane, Guggenheim, Jeremy, Hammond, Chris, Hardcastle, Alison, Harding, Simon, Hogg, Ruth, Hysi, Pirro, Keane, Pearse, Khaw, Peng Tee, Lascaratos, Gerassimos, Littlejohns, Thomas, Lotery, Andrew, Luthert, Phil, MacGillivray, Tom, Mackie, Sarah, McGuinness, Bernadette, McKay, Gareth, McKibbin, Martin, Moore, Tony, Morgan, James, O'Sullivan, Eoin, Oram, Richard, Owen, Chris, Patel, Praveen, Paterson, Euan, Peto, Tunde, Petzold, Axel, Pontikos, Nikolas, Rahi, Jugnoo, Rudnicka, Alicja, Sattar, Naveed, Self, Jay, Sergouniotis, Panagiotis, Sivaprasad, Sobha, Steel, David, Stratton, Irene, Strouthidis, Nicholas, Sudlow, Cathie, Sun, Zihan, Tapp, Robyn, Thomas, Dhanes, Trucco, Emanuele, Tufail, Adnan, Viswanathan, Ananth, Vitart, Veronique, Weedon, Mike, Williams, Katie, Williams, Cathy, Woodside, Jayne, Yates, Max, Yip, Jennifer, Zheng, Yalin, Aung, Tin, Burdon, Kathryn, Chen, Li, Cheng, Ching-Yu, Craig, Jamie, Cree, Angela, de Vries, Victor, Driessen, Sjoerd, Fingert, John, Gharahkhani, Puya, Hammond, Christopher, Hayward, Caroline, Hewitt, Alex, Jansonius, Nomdo, Jonansson, Fridbert, Jonas, Jost, Kass, Michael, Khor, Chiea, Klaver, Caroline, Koh, Jacyline, MacGregor, Stuart, Mackey, David, Mitchell, Paul, Pang, Calvin, Pasutto, Francesca, Pfeiffer, Norbert, Polašek, Ozren, Ramdas, Wishal, Schuster, Alexander, Segrè, Ayellet, Stefansson, Einer, Stefánsson, Kári, Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, van Duijn, Cornelia, Vergroesen, Joëlle, Vithana, Eranga, Wilson, James, Wojciechowski, Robert, Wong, Tien, Young, Terri, Stuart, Kelsey V., Luben, Robert N., Warwick, Alasdair N., Madjedi, Kian M., Patel, Praveen J., Biradar, Mahantesh I., Chia, Mark A., Pasquale, Louis R., Wiggs, Janey L., Kang, Jae H., Tran, Jessica H., Lentjes, Marleen A.H., Foster, Paul J., and Khawaja, Anthony P.

Published
2023
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5. A new polygenic score for refractive error improves detection of children at risk of high myopia but not the prediction of those at risk of myopic macular degeneration

Author

Bailey-Wilson, Joan E., Baird, Paul N., Barathi, Veluchamy A., Biino, Ginevra, Burdon, Kathryn P., Campbell, Harry, Chen, Li Jia, Cheng, Ching-Yu, Chew, Emily Y., Craig, Jamie E., Deangelis, Margaret M., Delcourt, Cécile, Ding, Xiaohu, Fan, Qiao, Fossarello, Maurizio, Foster, Paul J., Gharahkhani, Puya, Guggenheim, Jeremy A., Guo, Xiaobo, Haarman, Annechien E.G., Haller, Toomas, Hammond, Christopher J., Han, Xikun, Hayward, Caroline, He, Mingguang, Hewitt, Alex W., Hoang, Quan, Hysi, Pirro G., Iglesias, Adriana I., Igo, Robert P., Iyengar, Sudha K., Jonas, Jost B., Kähönen, Mika, Kaprio, Jaakko, Khawaja, Anthony P., Klein, Barbara E., Lass, Jonathan H., Lee, Kris, Lehtimäki, Terho, Lewis, Deyana, Li, Qing, Li, Shi-Ming, Lyytikäinen, Leo-Pekka, MacGregor, Stuart, Mackey, David A., Martin, Nicholas G., Meguro, Akira, Metspalu, Andres, Middlebrooks, Candace, Miyake, Masahiro, Mizuki, Nobuhisa, Musolf, Anthony, Nickels, Stefan, Oexle, Konrad, Pang, Chi Pui, Pärssinen, Olavi, Paterson, Andrew D., Pfeiffer, Norbert, Polasek, Ozren, Rahi, Jugnoo S., Raitakari, Olli, Rudan, Igor, Sahebjada, Srujana, Saw, Seang-Mei, Simpson, Claire L., Stambolian, Dwight, Tai, E-Shyong, Tedja, Milly S., Tideman, J. Willem L., Tsujikawa, Akitaka, van Duijn, Cornelia M., Verhoeven, Virginie J.M., Vitart, Veronique, Wang, Ningli, Wang, Ya Xing, Wedenoja, Juho, Wei, Wen Bin, Williams, Cathy, Williams, Katie M., Wilson, James F., Wojciechowski, Robert, Yam, Jason C.S., Yamashiro, Kenji, Yap, Maurice K.H., Yazar, Seyhan, Yip, Shea Ping, Young, Terri L., Zhou, Xiangtian, Allen, Naomi, Aslam, Tariq, Atan, Denize, Barman, Sarah, Barrett, Jenny, Bishop, Paul, Black, Graeme, Bunce, Catey, Carare, Roxana, Chakravarthy, Usha, Chan, Michelle, Chua, Sharon, Cipriani, Valentina, Day, Alexander, Desai, Parul, Dhillon, Bal, Dick, Andrew, Doney, Alexander, Egan, Cathy, Ennis, Sarah, Foster, Paul, Fruttiger, Marcus, Gallacher, John, Garway-Heath, David, Gibson, Jane, Gore, Dan, Guggenheim, Jeremy, Hammond, Chris, Hardcastle, Alison, Harding, Simon, Hogg, Ruth, Hysi, Pirro, Keane, Pearse A., Khaw, Peng Tee, Khawaja, Anthony, Lascaratos, Gerassimos, Littlejohns, Thomas, Lotery, Andrew, Luthert, Phil, MacGillivray, Tom, Mackie, Sarah, McGuinness, Bernadette, McKay, Gareth, McKibbin, Martin, Mitry, Danny, Moore, Tony, Morgan, James, Muthy, Zaynah, O'Sullivan, Eoin, Owen, Chris, Patel, Praveen, Paterson, Euan, Peto, Tunde, Petzold, Axel, Pontikos, Nikolas, Rahi, Jugnoo, Rudnicka, Alicja, Self, Jay, Sergouniotis, Panagiotis, Sivaprasad, Sobha, Steel, David, Stratton, Irene, Strouthidis, Nicholas, Sudlow, Cathie, Tapp, Robyn, Thaung, Caroline, Thomas, Dhanes, Trucco, Emanuele, Tufail, Adnan, Vernon, Stephen, Viswanathan, Ananth, Williams, Katie, Woodside, Jayne, Yates, Max, Yip, Jennifer, Zheng, Yalin, Clark, Rosie, Lee, Samantha Sze-Yee, Du, Ran, Wang, Yining, Kneepkens, Sander C.M., Charng, Jason, Huang, Yu, Hunter, Michael L., Jiang, Chen, Tideman, J.Willem L., Melles, Ronald B., Klaver, Caroline C.W., Choquet, Hélène, and Ohno-Matsui, Kyoko

Published
2023
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6. The Association of Urinary Sodium Excretion with Glaucoma and Related Traits in a Large United Kingdom Population

Author

Stuart, Kelsey V., primary, Biradar, Mahantesh I., additional, Luben, Robert N., additional, Dhaun, Neeraj, additional, Wagner, Siegfried K., additional, Warwick, Alasdair N., additional, Sun, Zihan, additional, Madjedi, Kian M., additional, Pasquale, Louis R., additional, Wiggs, Janey L., additional, Kang, Jae H., additional, Lentjes, Marleen A.H., additional, Aschard, Hugues, additional, Kim, Jihye, additional, Foster, Paul J., additional, Khawaja, Anthony P., additional, Chia, Mark, additional, Chua, Sharon, additional, Do, Ron, additional, Foster, Paul, additional, Kang, Jae, additional, Kastner, Alan, additional, Khawaja, Anthony, additional, Lentjes, Marleen, additional, Luben, Robert, additional, Madjedi, Kian, additional, Montesano, Giovanni, additional, Pasquale, Louis, additional, Stuart, Kelsey, additional, Warwick, Alasdair, additional, Wiggs, Janey, additional, Allen, Naomi, additional, Aslam, Tariq, additional, Atan, Denize, additional, Barman, Sarah, additional, Barrett, Jenny, additional, Bishop, Paul, additional, Black, Graeme, additional, Braithwaite, Tasanee, additional, Carare, Roxana, additional, Chakravarthy, Usha, additional, Chan, Michelle, additional, Day, Alexander, additional, Desai, Parul, additional, Dhillon, Bal, additional, Dick, Andrew, additional, Doney, Alexander, additional, Egan, Cathy, additional, Ennis, Sarah, additional, Fruttiger, Marcus, additional, Garway-Heath, David (Ted), additional, Gibson, Jane, additional, Guggenheim, Jeremy, additional, Hammond, Chris, additional, Hardcastle, Alison, additional, Harding, Simon, additional, Hogg, Ruth, additional, Hysi, Pirro, additional, Keane, Pearse, additional, Khaw, Peng Tee, additional, Lascaratos, Gerassimos, additional, Littlejohns, Thomas, additional, Lotery, Andrew, additional, Luthert, Phil, additional, MacGillivray, Tom, additional, Mackie, Sarah, additional, McGuinness, Bernadette, additional, McKay, Gareth, additional, McKibbin, Martin, additional, Moore, Tony, additional, Morgan, James, additional, O'Sullivan, Eoin, additional, Oram, Richard, additional, Owen, Chris, additional, Patel, Praveen, additional, Paterson, Euan, additional, Peto, Tunde, additional, Petzold, Axel, additional, Pontikos, Nikolas, additional, Rahi, Jugnoo, additional, Rudnicka, Alicja, additional, Sattar, Naveed, additional, Self, Jay, additional, Sergouniotis, Panagiotis, additional, Sivaprasad, Sobha, additional, Steel, David, additional, Stratton, Irene, additional, Strouthidis, Nicholas, additional, Sudlow, Cathie, additional, Tapp, Robyn, additional, Thomas, Dhanes, additional, Trucco, Emanuele, additional, Tufail, Adnan, additional, Viswanathan, Ananth, additional, Vitart, Veronique, additional, Weedon, Mike, additional, Williams, Katie, additional, Williams, Cathy, additional, Woodside, Jayne, additional, Yates, Max, additional, Yip, Jennifer, additional, Zheng, Yalin, additional, Aung, Tin, additional, Burdon, Kathryn, additional, Chen, Li, additional, Cheng, Ching-Yu, additional, Craig, Jamie, additional, Cree, Angela, additional, de Vries, Victor, additional, Driessen, Sjoerd, additional, Fingert, John, additional, Gharahkhani, Puya, additional, Hammond, Christopher, additional, Hayward, Caroline, additional, Hewitt, Alex, additional, Jansonius, Nomdo, additional, Jonansson, Fridbert, additional, Jonas, Jost, additional, Kass, Michael, additional, Khor, Chiea, additional, Klaver, Caroline, additional, Koh, Jacyline, additional, MacGregor, Stuart, additional, Mackey, David, additional, Mitchell, Paul, additional, Pang, Calvin, additional, Pasutto, Francesca, additional, Pfeiffer, Norbert, additional, Polašek, Ozren, additional, Ramdas, Wishal, additional, Schuster, Alexander, additional, Segrè, Ayellet, additional, Stefansson, Einer, additional, Stefánsson, Kári, additional, Thorleifsson, Gudmar, additional, Thorsteinsdottir, Unnur, additional, van Duijn, Cornelia, additional, Vergroesen, Joëlle, additional, Vithana, Eranga, additional, Wilson, James, additional, Wojciechowski, Robert, additional, Wong, Tien, additional, and Young, Terri, additional

Published
2024
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7. Faster Sensitivity Loss around Dense Scotomas than for Overall Macular Sensitivity in Stargardt Disease: ProgStar Report No. 14

Author

Scholl, Hendrik P.N., Strauss, Rupert W., Wolfson, Yulia, Bittencourt, Millena, Shah, Syed Mahmood, Ahmed, Mohamed, Schönbach, Etienne, Fujinami, Kaoru, Traboulsi, Elias, Ehlers, Justis, Marino, Meghan, Crowe, Susan, Briggs, Rachael, Borer, Angela, Pinter, Anne, Fecko, Tami, Burgnoni, Nikki, Sunness, Janet S., Applegate, Carol, Russell, Leslie, Michaelides, Michel, Degli Esposti, Simona, Moore, Anthony, Webster, Andrew, Connor, Sophie, Barnfield, Jade, Salchi, Zaid, Alfageme, Clara, McCudden, Victoria, Pefkianaki, Maria, Aboshiha, Jonathan, Liew, Gerald, Holder, Graham, Robson, Anthony, King, Alexa, Cajas Narvaez, Daniela Ivanova, Barnard, Katy, Grigg, Catherine, Dunbar, Hannah, Obadeyi, Yetunde, Girard-Claudon, Karine, Swann, Hilary, Rughani, Avani, Amoah, Charles, Carrington, Dominic, Bibi, Kanom, Ting, Emerson, Illiyas, Mohamed Nafaz, Begum, Hamida, Carter, Andrew, Georgiou, Anne, Lewism, Selma, Shaheen, Saddaf, Shinmar, Harpreet, Burton, Linda, Bernstein, Paul, Wegner, Kimberley, Sawyer, Briana Lauren, Carlstrom, Bonnie, Farnsworth, Kellian, Fry, Cyrie, Chandler, Melissa, Jenkins, Glen, Creel, Donnel, Birch, David, Wang, Yi-Zhong, Rodriguez, Luis, Locke, Kirsten, Klein, Martin, Mejia, Paulina, Cideciyan, Artur V., Jacobson, Samuel G., Schwartz, Sharon B., Matsui, Rodrigo, Gruzensky, Michaela, Charng, Jason, Roman, Alejandro J., Zrenner, Eberhart, Nasser, Fadi, Hahn, Gesa Astrid, Wilhelm, Barbara, Peters, Tobias, Beier, Benjamin, Koenig, Tilman, Kramer, Susanne, Sahel, José-Alain, Mohand-Said, Saddek, Audo, Isabelle, Laurent-Coriat, Caroline, Sliesoraityte, Ieva, Zeitz, Christina, Boyard, Fiona, Tran, Minh Ha, Chapon, Mathias, Chaumette, Céline, Amaudruz, Juliette, Ganem, Victoria, Sancho, Serge, Girmens, Aurore, Wojciechowski, Robert, Khan, Shazia, Emmert, David G., Cain, Dennis, Herring, Mark, Bassinger, Jennifer, Liberto, Lisa, West, Sheila, Ervin, Ann-Margret, Munoz, Beatriz, Kong, Xiangrong, Dreger, Kurt, Jones, Jennifer, Sadda, Srinivas, Ip, Michael S., Jha, Anamika, Ho, Alex, Kramer, Brendan, Lam, Ngoc, Tawdros, Rita, Zhou, Yong Dong, Carmona, Johana, Uji, Akihito, Hariri, Amirhossein, Lock, Amy, Elshafei, Anthony, Ganegoda, Anushika, Petrossian, Christine, Jenkins, Dennis, Strnad, Edward, Baghdasaryan, Elmira, Ito, Eric, Samson, Feliz, Blanquel, Gloria, Akil, Handan, Melendez, Jhanisus, Lei, Jianqin, Huang, Jianyan, Chau, Jonathan, Falavarjani, Khalil G., Espino, Kristina, Li, Manfred, Mendoza, Maria, Nittala, Muneeswar Gupta, Roded, Netali, Saleh, Nizar, Huang, Ping, Pitetta, Sean, Balasubramanian, Siva, Leahy, Sophie, Srinivas, Sowmya J., Velaga, Swetha B., Margaryan, Teresa, Tepelus, Tudor, Brown, Tyler, Fan, Wenying, Murillo, Yamileth, Shi, Yue, Aguilar, Katherine, Chan, Cynthia, Santos, Lisa, Seo, Brian, Sison, Christopher, Perez, Silvia, Chao, Stephanie, Miyasato, Kelly, Higgins, Julia, Luna, Zoila, Menchaca, Anita, Gonzalez, Norma, Robledo, Vicky, Carig, Karen, Baker, Kirstie, Ellenbogen, David, Bluemel, Daniel, Sanford, Theo, Linares, Daisy, Tran, Mei, Nava, Lorane, Oberoi, Michelle, Romero, Mark, Chiguil, Vivian, Bynum-Bain, Grantley, Kim, Monica, Mendiguren, Carolina, Huang, Xiwen, Smith, Monika, Sarreal, Natalie, Schönbach, Etienne M., Ibrahim, Mohamed A., Janes, Jessica L., Birch, David G., Muñoz, Beatriz, and Sadda, SriniVas R.

Published
2020
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8. Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 loci.

Author

Simpson, Claire L, Wojciechowski, Robert, Oexle, Konrad, Murgia, Federico, Portas, Laura, Li, Xiaohui, Verhoeven, Virginie JM, Vitart, Veronique, Schache, Maria, Hosseini, S Mohsen, Hysi, Pirro G, Raffel, Leslie J, Cotch, Mary Frances, Chew, Emily, Klein, Barbara EK, Klein, Ronald, Wong, Tien Yin, van Duijn, Cornelia M, Mitchell, Paul, Saw, Seang Mei, Fossarello, Maurizio, Wang, Jie Jin, DCCT/EDIC Research Group, Polašek, Ozren, Campbell, Harry, Rudan, Igor, Oostra, Ben A, Uitterlinden, André G, Hofman, Albert, Rivadeneira, Fernando, Amin, Najaf, Karssen, Lennart C, Vingerling, Johannes R, Döring, Angela, Bettecken, Thomas, Bencic, Goran, Gieger, Christian, Wichmann, H-Erich, Wilson, James F, Venturini, Cristina, Fleck, Brian, Cumberland, Phillippa M, Rahi, Jugnoo S, Hammond, Chris J, Hayward, Caroline, Wright, Alan F, Paterson, Andrew D, Baird, Paul N, Klaver, Caroline CW, Rotter, Jerome I, Pirastu, Mario, Meitinger, Thomas, Bailey-Wilson, Joan E, and Stambolian, Dwight

Subjects
DCCT/EDIC Research Group, Eye, Humans, Hyperopia, Myopia, Genetic Predisposition to Disease, Genetic Markers, Age of Onset, Linkage Disequilibrium, Phenotype, Polymorphism, Single Nucleotide, Alleles, Adult, Aged, Aged, 80 and over, Middle Aged, European Continental Ancestry Group, Female, Male, Genetic Association Studies, and over, Polymorphism, Single Nucleotide, General Science & Technology
Abstract

Refractive error (RE) is a complex, multifactorial disorder characterized by a mismatch between the optical power of the eye and its axial length that causes object images to be focused off the retina. The two major subtypes of RE are myopia (nearsightedness) and hyperopia (farsightedness), which represent opposite ends of the distribution of the quantitative measure of spherical refraction. We performed a fixed effects meta-analysis of genome-wide association results of myopia and hyperopia from 9 studies of European-derived populations: AREDS, KORA, FES, OGP-Talana, MESA, RSI, RSII, RSIII and ERF. One genome-wide significant region was observed for myopia, corresponding to a previously identified myopia locus on 8q12 (p = 1.25×10(-8)), which has been reported by Kiefer et al. as significantly associated with myopia age at onset and Verhoeven et al. as significantly associated to mean spherical-equivalent (MSE) refractive error. We observed two genome-wide significant associations with hyperopia. These regions overlapped with loci on 15q14 (minimum p value = 9.11×10(-11)) and 8q12 (minimum p value 1.82×10(-11)) previously reported for MSE and myopia age at onset. We also used an intermarker linkage- disequilibrium-based method for calculating the effective number of tests in targeted regional replication analyses. We analyzed myopia (which represents the closest phenotype in our data to the one used by Kiefer et al.) and showed replication of 10 additional loci associated with myopia previously reported by Kiefer et al. This is the first replication of these loci using myopia as the trait under analysis. "Replication-level" association was also seen between hyperopia and 12 of Kiefer et al.'s published loci. For the loci that show evidence of association to both myopia and hyperopia, the estimated effect of the risk alleles were in opposite directions for the two traits. This suggests that these loci are important contributors to variation of refractive error across the distribution.

Published
2014

9. Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error

Author

Tedja, Milly S., Wojciechowski, Robert, Hysi, Pirro G., Eriksson, Nicholas, Furlotte, Nicholas A., Verhoeven, Virginie J. M., Iglesias, Adriana I., Meester-Smoor, Magda A., Tompson, Stuart W., Fan, Qiao, Khawaja, Anthony P., Cheng, Ching-Yu, Höhn, René, Yamashiro, Kenji, Wenocur, Adam, Grazal, Clare, Haller, Toomas, Metspalu, Andres, Wedenoja, Juho, Jonas, Jost B., Wang, Ya Xing, Xie, Jing, Mitchell, Paul, Foster, Paul J., Klein, Barbara E. K., Klein, Ronald, Paterson, Andrew D., Hosseini, S. Mohsen, Shah, Rupal L., Williams, Cathy, Teo, Yik Ying, Tham, Yih Chung, Gupta, Preeti, Zhao, Wanting, Shi, Yuan, Saw, Woei-Yuh, Tai, E-Shyong, Sim, Xue Ling, Huffman, Jennifer E., Polašek, Ozren, Hayward, Caroline, Bencic, Goran, Rudan, Igor, Wilson, James F., The CREAM Consortium, 23andMe Research Team, UK Biobank Eye and Vision Consortium, Joshi, Peter K., Tsujikawa, Akitaka, Matsuda, Fumihiko, Whisenhunt, Kristina N., Zeller, Tanja, van der Spek, Peter J., Haak, Roxanna, Meijers-Heijboer, Hanne, van Leeuwen, Elisabeth M., Iyengar, Sudha K., Lass, Jonathan H., Hofman, Albert, Rivadeneira, Fernando, Uitterlinden, André G., Vingerling, Johannes R., Lehtimäki, Terho, Raitakari, Olli T., Biino, Ginevra, Concas, Maria Pina, Schwantes-An, Tae-Hwi, Igo, Jr, Robert P., Cuellar-Partida, Gabriel, Martin, Nicholas G., Craig, Jamie E., Gharahkhani, Puya, Williams, Katie M., Nag, Abhishek, Rahi, Jugnoo S., Cumberland, Phillippa M., Delcourt, Cécile, Bellenguez, Céline, Ried, Janina S., Bergen, Arthur A., Meitinger, Thomas, Gieger, Christian, Wong, Tien Yin, Hewitt, Alex W., Mackey, David A., Simpson, Claire L., Pfeiffer, Norbert, Pärssinen, Olavi, Baird, Paul N., Vitart, Veronique, Amin, Najaf, van Duijn, Cornelia M., Bailey-Wilson, Joan E., Young, Terri L., Saw, Seang-Mei, Stambolian, Dwight, MacGregor, Stuart, Guggenheim, Jeremy A., Tung, Joyce Y., Hammond, Christopher J., and Klaver, Caroline C. W.

Published
2018
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10. Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma

Author

Khawaja, Anthony P., Cooke Bailey, Jessica N., Wareham, Nicholas J., Scott, Robert A., Simcoe, Mark, Igo, Jr, Robert P., Song, Yeunjoo E., Wojciechowski, Robert, Cheng, Ching-Yu, Khaw, Peng T., Pasquale, Louis R., Haines, Jonathan L., Foster, Paul J., Wiggs, Janey L., Hammond, Chris J., Hysi, Pirro G., UK Biobank Eye and Vision Consortium, and NEIGHBORHOOD Consortium

Published
2018
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12. A new polygenic score for refractive error improves detection of children at risk of high myopia but not the prediction of those at risk of myopic macular degeneration

Author

Clark, Rosie, primary, Lee, Samantha Sze-Yee, additional, Du, Ran, additional, Wang, Yining, additional, Kneepkens, Sander C.M., additional, Charng, Jason, additional, Huang, Yu, additional, Hunter, Michael L., additional, Jiang, Chen, additional, Tideman, J.Willem L., additional, Melles, Ronald B., additional, Klaver, Caroline C.W., additional, Mackey, David A., additional, Williams, Cathy, additional, Choquet, Hélène, additional, Ohno-Matsui, Kyoko, additional, Guggenheim, Jeremy A., additional, Bailey-Wilson, Joan E., additional, Baird, Paul N., additional, Barathi, Veluchamy A., additional, Biino, Ginevra, additional, Burdon, Kathryn P., additional, Campbell, Harry, additional, Chen, Li Jia, additional, Cheng, Ching-Yu, additional, Chew, Emily Y., additional, Craig, Jamie E., additional, Deangelis, Margaret M., additional, Delcourt, Cécile, additional, Ding, Xiaohu, additional, Fan, Qiao, additional, Fossarello, Maurizio, additional, Foster, Paul J., additional, Gharahkhani, Puya, additional, Guo, Xiaobo, additional, Haarman, Annechien E.G., additional, Haller, Toomas, additional, Hammond, Christopher J., additional, Han, Xikun, additional, Hayward, Caroline, additional, He, Mingguang, additional, Hewitt, Alex W., additional, Hoang, Quan, additional, Hysi, Pirro G., additional, Iglesias, Adriana I., additional, Igo, Robert P., additional, Iyengar, Sudha K., additional, Jonas, Jost B., additional, Kähönen, Mika, additional, Kaprio, Jaakko, additional, Khawaja, Anthony P., additional, Klein, Barbara E., additional, Lass, Jonathan H., additional, Lee, Kris, additional, Lehtimäki, Terho, additional, Lewis, Deyana, additional, Li, Qing, additional, Li, Shi-Ming, additional, Lyytikäinen, Leo-Pekka, additional, MacGregor, Stuart, additional, Martin, Nicholas G., additional, Meguro, Akira, additional, Metspalu, Andres, additional, Middlebrooks, Candace, additional, Miyake, Masahiro, additional, Mizuki, Nobuhisa, additional, Musolf, Anthony, additional, Nickels, Stefan, additional, Oexle, Konrad, additional, Pang, Chi Pui, additional, Pärssinen, Olavi, additional, Paterson, Andrew D., additional, Pfeiffer, Norbert, additional, Polasek, Ozren, additional, Rahi, Jugnoo S., additional, Raitakari, Olli, additional, Rudan, Igor, additional, Sahebjada, Srujana, additional, Saw, Seang-Mei, additional, Simpson, Claire L., additional, Stambolian, Dwight, additional, Tai, E-Shyong, additional, Tedja, Milly S., additional, Tideman, J. Willem L., additional, Tsujikawa, Akitaka, additional, van Duijn, Cornelia M., additional, Verhoeven, Virginie J.M., additional, Vitart, Veronique, additional, Wang, Ningli, additional, Wang, Ya Xing, additional, Wedenoja, Juho, additional, Wei, Wen Bin, additional, Williams, Katie M., additional, Wilson, James F., additional, Wojciechowski, Robert, additional, Yam, Jason C.S., additional, Yamashiro, Kenji, additional, Yap, Maurice K.H., additional, Yazar, Seyhan, additional, Yip, Shea Ping, additional, Young, Terri L., additional, Zhou, Xiangtian, additional, Allen, Naomi, additional, Aslam, Tariq, additional, Atan, Denize, additional, Barman, Sarah, additional, Barrett, Jenny, additional, Bishop, Paul, additional, Black, Graeme, additional, Bunce, Catey, additional, Carare, Roxana, additional, Chakravarthy, Usha, additional, Chan, Michelle, additional, Chua, Sharon, additional, Cipriani, Valentina, additional, Day, Alexander, additional, Desai, Parul, additional, Dhillon, Bal, additional, Dick, Andrew, additional, Doney, Alexander, additional, Egan, Cathy, additional, Ennis, Sarah, additional, Foster, Paul, additional, Fruttiger, Marcus, additional, Gallacher, John, additional, Garway-Heath, David, additional, Gibson, Jane, additional, Gore, Dan, additional, Guggenheim, Jeremy, additional, Hammond, Chris, additional, Hardcastle, Alison, additional, Harding, Simon, additional, Hogg, Ruth, additional, Hysi, Pirro, additional, Keane, Pearse A., additional, Khaw, Peng Tee, additional, Khawaja, Anthony, additional, Lascaratos, Gerassimos, additional, Littlejohns, Thomas, additional, Lotery, Andrew, additional, Luthert, Phil, additional, MacGillivray, Tom, additional, Mackie, Sarah, additional, McGuinness, Bernadette, additional, McKay, Gareth, additional, McKibbin, Martin, additional, Mitry, Danny, additional, Moore, Tony, additional, Morgan, James, additional, Muthy, Zaynah, additional, O'Sullivan, Eoin, additional, Owen, Chris, additional, Patel, Praveen, additional, Paterson, Euan, additional, Peto, Tunde, additional, Petzold, Axel, additional, Pontikos, Nikolas, additional, Rahi, Jugnoo, additional, Rudnicka, Alicja, additional, Self, Jay, additional, Sergouniotis, Panagiotis, additional, Sivaprasad, Sobha, additional, Steel, David, additional, Stratton, Irene, additional, Strouthidis, Nicholas, additional, Sudlow, Cathie, additional, Tapp, Robyn, additional, Thaung, Caroline, additional, Thomas, Dhanes, additional, Trucco, Emanuele, additional, Tufail, Adnan, additional, Vernon, Stephen, additional, Viswanathan, Ananth, additional, Williams, Katie, additional, Woodside, Jayne, additional, Yates, Max, additional, Yip, Jennifer, additional, and Zheng, Yalin, additional

Published
2023
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14. The Association of Alcohol Consumption with Glaucoma and Related Traits

Author

Stuart, Kelsey V., primary, Luben, Robert N., additional, Warwick, Alasdair N., additional, Madjedi, Kian M., additional, Patel, Praveen J., additional, Biradar, Mahantesh I., additional, Sun, Zihan, additional, Chia, Mark A., additional, Pasquale, Louis R., additional, Wiggs, Janey L., additional, Kang, Jae H., additional, Kim, Jihye, additional, Aschard, Hugues, additional, Tran, Jessica H., additional, Lentjes, Marleen A.H., additional, Foster, Paul J., additional, Khawaja, Anthony P., additional, Chia, Mark, additional, Chua, Sharon, additional, Do, Ron, additional, Foster, Paul, additional, Kang, Jae, additional, Kastner, Alan, additional, Khawaja, Anthony, additional, Lentjes, Marleen, additional, Luben, Robert, additional, Madjedi, Kian, additional, Montesano, Giovanni, additional, Pasquale, Louis, additional, Stuart, Kelsey, additional, Warwick, Alasdair, additional, Wiggs, Janey, additional, Allen, Naomi, additional, Aslam, Tariq, additional, Atan, Denize, additional, Barman, Sarah, additional, Barrett, Jenny, additional, Bishop, Paul, additional, Black, Graeme, additional, Braithwaite, Tasanee, additional, Carare, Roxana, additional, Chakravarthy, Usha, additional, Chan, Michelle, additional, Day, Alexander, additional, Desai, Parul, additional, Dhillon, Bal, additional, Dick, Andrew, additional, Doney, Alexander, additional, Egan, Cathy, additional, Ennis, Sarah, additional, Fruttiger, Marcus, additional, Gallacher, John, additional, Garway-Heath, David (Ted), additional, Gibson, Jane, additional, Guggenheim, Jeremy, additional, Hammond, Chris, additional, Hardcastle, Alison, additional, Harding, Simon, additional, Hogg, Ruth, additional, Hysi, Pirro, additional, Keane, Pearse, additional, Khaw, Peng Tee, additional, Lascaratos, Gerassimos, additional, Littlejohns, Thomas, additional, Lotery, Andrew, additional, Luthert, Phil, additional, MacGillivray, Tom, additional, Mackie, Sarah, additional, McGuinness, Bernadette, additional, McKay, Gareth, additional, McKibbin, Martin, additional, Moore, Tony, additional, Morgan, James, additional, O'Sullivan, Eoin, additional, Oram, Richard, additional, Owen, Chris, additional, Patel, Praveen, additional, Paterson, Euan, additional, Peto, Tunde, additional, Petzold, Axel, additional, Pontikos, Nikolas, additional, Rahi, Jugnoo, additional, Rudnicka, Alicja, additional, Sattar, Naveed, additional, Self, Jay, additional, Sergouniotis, Panagiotis, additional, Sivaprasad, Sobha, additional, Steel, David, additional, Stratton, Irene, additional, Strouthidis, Nicholas, additional, Sudlow, Cathie, additional, Tapp, Robyn, additional, Thomas, Dhanes, additional, Trucco, Emanuele, additional, Tufail, Adnan, additional, Viswanathan, Ananth, additional, Vitart, Veronique, additional, Weedon, Mike, additional, Williams, Katie, additional, Williams, Cathy, additional, Woodside, Jayne, additional, Yates, Max, additional, Yip, Jennifer, additional, Zheng, Yalin, additional, Aung, Tin, additional, Burdon, Kathryn, additional, Chen, Li, additional, Cheng, Ching-Yu, additional, Craig, Jamie, additional, Cree, Angela, additional, de Vries, Victor, additional, Driessen, Sjoerd, additional, Fingert, John, additional, Gharahkhani, Puya, additional, Hammond, Christopher, additional, Hayward, Caroline, additional, Hewitt, Alex, additional, Jansonius, Nomdo, additional, Jonansson, Fridbert, additional, Jonas, Jost, additional, Kass, Michael, additional, Khor, Chiea, additional, Klaver, Caroline, additional, Koh, Jacyline, additional, MacGregor, Stuart, additional, Mackey, David, additional, Mitchell, Paul, additional, Pang, Calvin, additional, Pasutto, Francesca, additional, Pfeiffer, Norbert, additional, Polašek, Ozren, additional, Ramdas, Wishal, additional, Schuster, Alexander, additional, Segrè, Ayellet, additional, Stefansson, Einer, additional, Stefánsson, Kári, additional, Thorleifsson, Gudmar, additional, Thorsteinsdottir, Unnur, additional, van Duijn, Cornelia, additional, Vergroesen, Joëlle, additional, Vithana, Eranga, additional, Wilson, James, additional, Wojciechowski, Robert, additional, Wong, Tien, additional, and Young, Terri, additional

Published
2022
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15. Rare variant analyses across multiethnic cohorts identify novel genes for refractive error

Author

Musolf, Anthony M., Haarman, Annechien E. G., Luben, Robert N., Ong, Jue-Sheng, Patasova, Karina, Trapero, Rolando Hernandez, Marsh, Joseph, Jain, Ishika, Jain, Riya, Wang, Paul Zhiping, Lewis, Deyana D., Tedja, Milly S., Iglesias, Adriana I., Li, Hengtong, Cowan, Cameron S., Baird, Paul Nigel, Veluchamy, Amutha Barathi, Burdon, Kathryn P., Campbell, Harry, Chen, Li Jia, Cheng, Ching-Yu, Chew, Emily Y., Craig, Jamie E., Cumberland, Phillippa M., Deangelis, Margaret M., Delcourt, Cécile, Ding, Xiaohu, Evans, David M., Fan, Qiao, Fossarello, Maurizio, Foster, Paul J., Gharahkhani, Puya, Guggenheim, Jeremy A., Guo, Xiaobo, Han, Xikun, He, Mingguang, Hewitt, Alex W., Hoang, Quan V., Iyengar, Sudha K., Jonas, Jost B., Kähönen, Mika, Kaprio, Jaakko, Klein, Barbara E., Lass, Jonathan H., Lee, Kris, Lehtimäki, Terho, Lewis, Deyana, Li, Qing, Li, Shi-Ming, Lyytikäinen, Leo-Pekka, MacGregor, Stuart, Mackey, David A., Martin, Nicholas G., Meguro, Akira, Middlebrooks, Candace, Miyake, Masahiro, Mizuki, Nobuhisa, Musolf, Anthony, Nickels, Stefan, Oexle, Konrad, Pang, Chi Pui, Paterson, Andrew D., Pennell, Craig, Pfeiffer, Norbert, Polasek, Ozren, Rahi, Jugnoo S., Raitakari, Olli, Rudan, Igor, Sahebjada, Srujana, Simpson, Claire L., Tai, E-Shyong, Tideman, J. Willem L., Tsujikawa, Akitaka, Wang, Ningli, Bin, Wei Wen, Williams, Cathy, Williams, Katie M., Wilson, James F., Wojciechowski, Robert, Wang, Ya Xing, Yamashiro, Kenji, Yam, Jason C. S., Yap, Maurice K. H., Yazar, Seyhan, Yip, Shea Ping, Young, Terri L., Zhou, Xiangtian, Biino, Ginevra, Klein, Alison P., Duggal, Priya, Hayward, Caroline, Haller, Toomas, Metspalu, Andres, Wedenoja, Juho, Pärssinen, Olavi, Saw, Seang-Mei, Stambolian, Dwight, Hysi, Pirro G., Khawaja, Anthony P., Vitart, Veronique, Hammond, Christopher J., van Duijn, Cornelia M., Verhoeven, Virginie J. M., Klaver, Caroline C. W., and Bailey-Wilson, Joan E.

Subjects
genetic predisposition to disease, perinnölliset taudit, ympäristötekijät, taittovirheet, perinnöllisyyslääketiede, riskitekijät, quantitative trait, periytyvyys, genome-wide association studies, quantitative trait loci, perimä, silmätaudit, microarrays, perinnöllisyys
Abstract

Refractive error, measured here as mean spherical equivalent (SER), is a complex eye condition caused by both genetic and environmental factors. Individuals with strong positive or negative values of SER require spectacles or other approaches for vision correction. Common genetic risk factors have been identified by genome-wide association studies (GWAS), but a great part of the refractive error heritability is still missing. Some of this heritability may be explained by rare variants (minor allele frequency [MAF] ≤ 0.01.). We performed multiple gene-based association tests of mean Spherical Equivalent with rare variants in exome array data from the Consortium for Refractive Error and Myopia (CREAM). The dataset consisted of over 27,000 total subjects from five cohorts of Indo-European and Eastern Asian ethnicity. We identified 129 unique genes associated with refractive error, many of which were replicated in multiple cohorts. Our best novel candidates included the retina expressed PDCD6IP, the circadian rhythm gene PER3, and P4HTM, which affects eye morphology. Future work will include functional studies and validation. Identification of genes contributing to refractive error and future understanding of their function may lead to better treatment and prevention of refractive errors, which themselves are important risk factors for various blinding conditions. peerReviewed

Published
2023

17. Genetically low vitamin D concentrations and myopic refractive error: a Mendelian randomization study

Author

Cuellar-Partida, Gabriel, Williams, Katie M, Yazar, Seyhan, Guggenheim, Jeremy A, Hewitt, Alex W, Williams, Cathy, Wang, Jie Jin, Kho, Pik-Fang, Saw, Seang Mei, Cheng, Ching-Yu, Wong, Tien Yin, Aung, Tin, Young, Terri L, Tideman, Willem L J, Jonas, Jost B, Mitchell, Paul, Wojciechowski, Robert, Stambolian, Dwight, Hysi, Pirro, Hammond, Christopher J, Mackey, David A, Lucas, Robyn M, and MacGregor, Stuart

Published
2017
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18. New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics

Author

Springelkamp, Henriët, Iglesias, Adriana I., Mishra, Aniket, Höhn, René, Wojciechowski, Robert, Khawaja, Anthony P., Nag, Abhishek, Wang, Ya Xing, Wang, Jie Jin, Cuellar-Partida, Gabriel, Gibson, Jane, Bailey, Jessica N. Cooke, Vithana, Eranga N., Gharahkhani, Puya, Boutin, Thibaud, Ramdas, Wishal D., Zeller, Tanja, Luben, Robert N., Yonova-Doing, Ekaterina, Viswanathan, Ananth C., Yazar, Seyhan, Cree, Angela J., Haines, Jonathan L., Koh, Jia Yu, Souzeau, Emmanuelle, Wilson, James F., Amin, Najaf, Müller, Christian, Venturini, Cristina, Kearns, Lisa S., Kang, Jae Hee, Tham, Yih Chung, Zhou, Tiger, van Leeuwen, Elisabeth M., Nickels, Stefan, Sanfilippo, Paul, Liao, Jiemin, van der Linde, Herma, Zhao, Wanting, van Koolwijk, Leonieke M.E., Zheng, Li, Rivadeneira, Fernando, Baskaran, Mani, van der Lee, Sven J., Perera, Shamira, de Jong, Paulus T.V.M., Oostra, Ben A., Uitterlinden, André G., Fan, Qiao, Hofman, Albert, Tai, E-Shyong, Vingerling, Johannes R., Sim, Xueling, Wolfs, Roger C.W., Teo, Yik Ying, Lemij, Hans G., Khor, Chiea Chuen, Willemsen, Rob, Lackner, Karl J., Aung, Tin, Jansonius, Nomdo M., Montgomery, Grant, Wild, Philipp S., Young, Terri L., Burdon, Kathryn P., Hysi, Pirro G., Pasquale, Louis R., Wong, Tien Yin, Klaver, Caroline C.W., Hewitt, Alex W., Jonas, Jost B., Mitchell, Paul, Lotery, Andrew J., Foster, Paul J., Vitart, Veronique, Pfeiffer, Norbert, Craig, Jamie E., Mackey, David A., Hammond, Christopher J., Wiggs, Janey L., Cheng, Ching-Yu, van Duijn, Cornelia M., and MacGregor, Stuart

Published
2017
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19. Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium

Author

Li, Qing, Wojciechowski, Robert, Simpson, Claire L., Hysi, Pirro G., Verhoeven, Virginie J. M., Ikram, Mohammad Kamran, Höhn, René, Vitart, Veronique, Hewitt, Alex W., Oexle, Konrad, Mäkelä, Kari-Matti, MacGregor, Stuart, Pirastu, Mario, Fan, Qiao, Cheng, Ching-Yu, St Pourcain, Beaté, McMahon, George, Kemp, John P., Northstone, Kate, Rahi, Jugnoo S., Cumberland, Phillippa M., Martin, Nicholas G., Sanfilippo, Paul G., Lu, Yi, Wang, Ya Xing, Hayward, Caroline, Polašek, Ozren, Campbell, Harry, Bencic, Goran, Wright, Alan F., Wedenoja, Juho, Zeller, Tanja, Schillert, Arne, Mirshahi, Alireza, Lackner, Karl, Yip, Shea Ping, Yap, Maurice K. H., Ried, Janina S., Gieger, Christian, Murgia, Federico, Wilson, James F., Fleck, Brian, Yazar, Seyhan, Vingerling, Johannes R., Hofman, Albert, Uitterlinden, André, Rivadeneira, Fernando, Amin, Najaf, Karssen, Lennart, Oostra, Ben A., Zhou, Xin, Teo, Yik-Ying, Tai, E. Shyong, Vithana, Eranga, Barathi, Veluchamy, Zheng, Yingfeng, Siantar, Rosalynn Grace, Neelam, Kumari, Shin, Youchan, Lam, Janice, Yonova-Doing, Ekaterina, Venturini, Cristina, Hosseini, S. Mohsen, Wong, Hoi-Suen, Lehtimäki, Terho, Kähönen, Mika, Raitakari, Olli, Timpson, Nicholas J., Evans, David M., Khor, Chiea-Chuen, Aung, Tin, Young, Terri L., Mitchell, Paul, Klein, Barbara, van Duijn, Cornelia M., Meitinger, Thomas, Jonas, Jost B., Baird, Paul N., Mackey, David A., Wong, Tien Yin, Saw, Seang-Mei, Pärssinen, Olavi, Stambolian, Dwight, Hammond, Christopher J., Klaver, Caroline C. W., Williams, Cathy, Paterson, Andrew D., Bailey-Wilson, Joan E., Guggenheim, Jeremy A., and The CREAM Consortium

Published
2015
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20. Meta-analysis of 542,934 subjects of European ancestry identifies new genes and mechanisms predisposing to refractive error and myopia

Author

Hysi, Pirro G, Choquet, Hélène, Khawaja, Anthony P, Wojciechowski, Robert, Tedja, Milly S, Yin, Jie, Simcoe, Mark J, Patasova, Karina, Mahroo, Omar A, Thai, Khanh K, Cumberland, Phillippa M, Melles, Ronald B, Verhoeven, Virginie JM, Vitart, Veronique, Segre, Ayellet, Stone, Richard A, Wareham, Nicholas, Hewitt, Alex W, Mackey, David A, Klaver, Caroline CW, MacGregor, Stuart, Error, Consortium For Refractive, Khaw, Peng T, Foster, Paul J, Eye, UK, Guggenheim, Jeremy A, 23andMe Inc., Rahi, Jugnoo S, Jorgenson, Eric, Hammond, Christopher J, Apollo-University Of Cambridge Repository, Hysi, Pirro G [0000-0001-5752-2510], Choquet, Hélène [0000-0001-9839-8667], Khawaja, Anthony P [0000-0001-6802-8585], Wojciechowski, Robert [0000-0002-9593-4652], Tedja, Milly S [0000-0003-0356-9684], Simcoe, Mark J [0000-0003-2432-0810], Verhoeven, Virginie JM [0000-0001-7359-7862], Vitart, Veronique [0000-0002-4991-3797], Hewitt, Alex W [0000-0002-5123-5999], Klaver, Caroline CW [0000-0002-2355-5258], MacGregor, Stuart [0000-0001-6731-8142], Khaw, Peng T [0000-0002-8087-2268], Foster, Paul J [0000-0002-4755-177X], Guggenheim, Jeremy A [0000-0001-5164-340X], Jorgenson, Eric [0000-0002-5829-8191], Hammond, Christopher J [0000-0002-3227-2620], and Apollo - University of Cambridge Repository

Subjects
Adult, Male, genetic structures, Consortium for Refractive Error and Myopia, European Continental Ancestry Group, Middle Aged, Refractive Errors, Polymorphism, Single Nucleotide, eye diseases, White People, 23andMe Inc, UK Eye and Vision Consortium, Myopia, Humans, Genetic Predisposition to Disease, Female, Aged, Genome-Wide Association Study
Abstract

Refractive errors, in particular myopia, are a leading cause of morbidity and disability worldwide. Genetic investigation can improve understanding of the molecular mechanisms that underlie abnormal eye development and impaired vision. We conducted a meta-analysis of genome-wide association studies (GWAS) that involved 542,934 European participants and identified 336 novel genetic loci associated with refractive error. Collectively, all associated genetic variants explain 18.4% of heritability and improve the accuracy of myopia prediction (area under the curve (AUC) = 0.75). Our results suggest that refractive error is genetically heterogeneous, driven by genes that participate in the development of every anatomical component of the eye. In addition, our analyses suggest that genetic factors controlling circadian rhythm and pigmentation are also involved in the development of myopia and refractive error. These results may enable the prediction of refractive error and the development of personalized myopia prevention strategies in the future.

Published
2021

23. Characteristics of p.Gln368Ter Myocilin Variant and Influence of Polygenic Risk on Glaucoma Penetrance in the UK Biobank

Author

Zebardast, Nazlee, primary, Sekimitsu, Sayuri, additional, Wang, Jiali, additional, Elze, Tobias, additional, Gharahkhani, Puya, additional, Cole, Brian S., additional, Lin, Michael M., additional, Segrè, Ayellet V., additional, Wiggs, Janey L., additional, Aung, Tin, additional, Craig, Jamie E., additional, Cheng, Ching-Yu, additional, Cooke Bailey, Jessica N., additional, Cree, Angela J., additional, Foster, Paul J., additional, Hammond, Christopher J., additional, Hewitt, Alex W., additional, Höhn, René, additional, Hysi, Pirro G., additional, Iglesias, Adriana I., additional, Jonas, Jost B., additional, Klaver, Caroline C.W., additional, Khawaja, Anthony P., additional, Khor, Chiea Chuen, additional, Lotery, Andrew J., additional, MacGregor, Stuart, additional, Mackey, David A., additional, Ong, Jue Sheng, additional, Mitchell, Paul, additional, Pasquale, Louis R., additional, Pang, ChiPui, additional, Pasutto, Francesca, additional, Pfeiffer, Norbert, additional, Segre, Ayellet V., additional, van Duijn, Cornelia M., additional, Viswanathan, Ananth C., additional, Vitart, Veronique, additional, Vithana, Eranga N., additional, Wojciechowski, Robert, additional, Young, Terri L., additional, Wong, Tien Yin, additional, and Yazar, Seyhan, additional

Published
2021
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26. Genome-wide association meta-analysis of corneal curvature identifies novel loci and shared genetic influences across axial length and refractive error

Author

Fan, Qiao, Pozarickij, Alfred, Tan, Nicholas Y. Q., Guo, Xiaobo, Verhoeven, Virginie J. M., Vitart, Veronique, Guggenheim, Jeremy A., Miyake, Masahiro, Tideman, J. Willem L., Khawaja, Anthony P., Zhang, Liang, MacGregor, Stuart, Höhn, René, Chen, Peng, Biino, Ginevra, Wedenoja, Juho, Saffari, Seyed Ehsan, Tedja, Milly S., Xie, Jing, Lanca, Carla, Wang, Ya Xing, Sahebjada, Srujana, Mazur, Johanna, Mirshahi, Alireza, Martin, Nicholas G., Yazar, Seyhan, Pennell, Craig E., Yap, Maurice, Haarman, Annechien E. G., Enthoven, Clair A., Polling, JanRoelof, Hewitt, Alex W., Jaddoe, Vincent W. V., Van Duijn, Cornelia M., Hayward, Caroline, Polasek, Ozren, Tai, E-Shyong, Yoshikatsu, Hosoda, Hysi, Pirro G., Young, Terri L., Tsujikawa, Akitaka, Wang, Jie Jing, Mitchell, Paul, Pfeiffer, Norbert, Pärssinen, Olavi, Foster, Paul J., Fossarello, Maurizio, Yip, Shea Ping, Williams, Cathy, Hammond, Christopher J., Jonas, Jost B., He, Mingguang, Mackey, David A., Wong, Tien-Yin, Klaver, Caroline C. W., Saw, Seang-Mei, Baird, Paul N., Cheng, Ching-Yu, Bailey-Wilson, Joan E., Veluchamy, Amutha Barathi, Burdon, Kathryn P., Campbell, Harry, Chen, Li Jia, Chew, Emily Y., Craig, Jamie E., Cumberland, Phillippa M., Deangelis, Margaret M., Delcourt, Cécile, Ding, Xiaohu, Evans, David M., Gharahkhani, Puya, Iglesias, Adriana I., Haller, Toomas, Han, Xikun, Hoang, Quan, Igo, Robert P., Iyengar, Sudha K., Kähönen, Mika, Kaprio, Jaakko, Klein, Barbara E., Klein, Ronald, Lass, Jonathan H., Lee, Kris, Lehtimäki, Terho, Lewis, Deyana D., Li, Qing, Li, Shi-Ming, Lyytikäinen, Leo-Pekka, Meguro, Akira, Metspalu, Andres, Middlebrooks, Candace D., Mizuki, Nobuhisa, Musolf, Anthony M., Nickels, Stefan, Oexle, Konrad, Pang, Chi Pui, Paterson, Andrew D., Rahi, Jugnoo S., Raitakari, Olli, Rudan, Igor, Stambolian, Dwight, Simpson, Claire L., Wang, Ningli, Bin Wei, Wen, Williams, Katie M., Wilson, James F., Wojciechowski, Robert, Yamashiro, Kenji, Yam, Jason C. S., Zhou, Xiangtian, Aslam, Tariq, Barman, Sarah A., Barrett, Jenny H., Bishop, Paul, Blows, Peter, Bunce, Catey, Carare, Roxana O., Chakravarthy, Usha, Chan, Michelle, Chua, Sharon Y. L., Crabb, David P., Cumberland, Philippa M., Day, Alexander, Desai, Parul, Dhillon, Bal, Dick, Andrew D., Egan, Cathy, Ennis, Sarah, Fruttiger, Marcus, Gallacher, John E. J., Garway-Heath, David F., Gibson, Jane, Gore, Dan, Hardcastle, Alison, Harding, Simon P., Hogg, Ruth E., Keane, Pearse A., Khaw, Sir Peng T., Lascaratos, Gerassimos, Lotery, Andrew J., Macgillivray, Tom, Mackie, Sarah, Martin, Keith, McGaughey, Michelle, McGuinness, Bernadette, McKay, Gareth J., McKibbin, Martin, Mitry, Danny, Moore, Tony, Morgan, James E., Muthy, Zaynah A., O’Sullivan, Eoin, Owen, Chris G., Patel, Praveen, Paterson, Euan, Peto, Tunde, Petzold, Axel, Rudnikca, Alicja R., Self, Jay, Sivaprasad, Sobha, Steel, David, Stratton, Irene, Strouthidis, Nicholas, Sudlow, Cathie, Thomas, Dhanes, Trucco, Emanuele, Tufail, Adnan, Vernon, Stephen A., Viswanathan, Ananth C., Williams, Katie, Woodside, Jayne V., Yates, Max M., Yip, Jennifer, Zheng, Yalin, Verhoeven, Virginie J. M. [0000-0001-7359-7862], Vitart, Veronique [0000-0002-4991-3797], Guggenheim, Jeremy A. [0000-0001-5164-340X], Khawaja, Anthony P. [0000-0001-6802-8585], Zhang, Liang [0000-0001-9264-170X], MacGregor, Stuart [0000-0001-6731-8142], Wedenoja, Juho [0000-0002-6155-0378], Saffari, Seyed Ehsan [0000-0002-6473-4375], Tedja, Milly S. [0000-0003-0356-9684], Lanca, Carla [0000-0001-9918-787X], Wang, Ya Xing [0000-0003-2749-7793], Martin, Nicholas G. [0000-0003-4069-8020], Yap, Maurice [0000-0003-4687-4101], Hewitt, Alex W. [0000-0002-5123-5999], Jaddoe, Vincent W. V. [0000-0003-2939-0041], Hayward, Caroline [0000-0002-9405-9550], Hysi, Pirro G. [0000-0001-5752-2510], Young, Terri L. [0000-0001-6994-9941], Wang, Jie Jing [0000-0001-9491-4898], Pfeiffer, Norbert [0000-0002-5766-2617], Foster, Paul J. [0000-0002-4755-177X], Hammond, Christopher J. [0000-0002-3227-2620], Jonas, Jost B. [0000-0003-2972-5227], Klaver, Caroline C. W. [0000-0002-2355-5258], Baird, Paul N. [0000-0002-1305-3502], and Apollo - University of Cambridge Repository

Subjects
genetic structures, 45, 692/699/3161/3163, 631/208/727/2000, 631/208/205/2138, 45/43, article, sense organs, eye diseases
Abstract

Corneal curvature, a highly heritable trait, is a key clinical endophenotype for myopia - a major cause of visual impairment and blindness in the world. Here we present a trans-ethnic meta-analysis of corneal curvature GWAS in 44,042 individuals of Caucasian and Asian with replication in 88,218 UK Biobank data. We identified 47 loci (of which 26 are novel), with population-specific signals as well as shared signals across ethnicities. Some identified variants showed precise scaling in corneal curvature and eye elongation (i.e. axial length) to maintain eyes in emmetropia (i.e. HDAC11/FBLN2 rs2630445, RBP3 rs11204213); others exhibited association with myopia with little pleiotropic effects on eye elongation. Implicated genes are involved in extracellular matrix organization, developmental process for body and eye, connective tissue cartilage and glycosylation protein activities. Our study provides insights into population-specific novel genes for corneal curvature, and their pleiotropic effect in regulating eye size or conferring susceptibility to myopia.

Published
2021
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27. Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium

Author

Verhoeven, Virginie J. M., Hysi, Pirro G., Saw, Seang-Mei, Vitart, Veronique, Mirshahi, Alireza, Guggenheim, Jeremy A., Cotch, Mary Frances, Yamashiro, Kenji, Baird, Paul N., Mackey, David A., Wojciechowski, Robert, Ikram, M. Kamran, Hewitt, Alex W., Duggal, Priya, Janmahasatian, Sarayut, Khor, Chiea-Chuen, Fan, Qiao, Zhou, Xin, Young, Terri L., Tai, E-Shyong, Goh, Liang-Kee, Li, Yi-Ju, Aung, Tin, Vithana, Eranga, Teo, Yik-Ying, Tay, Wanting, Sim, Xueling, Rudan, Igor, Hayward, Caroline, Wright, Alan F., Polasek, Ozren, Campbell, Harry, Wilson, James F., Fleck, Brian W., Nakata, Isao, Yoshimura, Nagahisa, Yamada, Ryo, Matsuda, Fumihiko, Ohno-Matsui, Kyoko, Nag, Abhishek, McMahon, George, Pourcain, Beate St., Lu, Yi, Rahi, Jugnoo S., Cumberland, Phillippa M., Bhattacharya, Shomi, Simpson, Claire L., Atwood, Larry D., Li, Xiaohui, Raffel, Leslie J., Murgia, Federico, Portas, Laura, Despriet, Dominiek D. G., van Koolwijk, Leonieke M. E., Wolfram, Christian, Lackner, Karl J., Tönjes, Anke, Mägi, Reedik, Lehtimäki, Terho, Kähönen, Mika, Esko, Tõnu, Metspalu, Andres, Rantanen, Taina, Pärssinen, Olavi, Klein, Barbara E., Meitinger, Thomas, Spector, Timothy D., Oostra, Ben A., Smith, Albert V., de Jong, Paulus T. V. M., Hofman, Albert, Amin, Najaf, Karssen, Lennart C., Rivadeneira, Fernando, Vingerling, Johannes R., Eiríksdóttir, Guðný, Gudnason, Vilmundur, Döring, Angela, Bettecken, Thomas, Uitterlinden, André G., Williams, Cathy, Zeller, Tanja, Castagné, Raphaële, Oexle, Konrad, van Duijn, Cornelia M., Iyengar, Sudha K., Mitchell, Paul, Wang, Jie Jin, Höhn, René, Pfeiffer, Norbert, Bailey-Wilson, Joan E., Stambolian, Dwight, Wong, Tien-Yin, Hammond, Christopher J., and Klaver, Caroline C. W.

Published
2012
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30. Meta-analysis of 542,934 subjects of European ancestry identifies 336 novel genes and mechanisms predisposing to refractive error and myopia

Author

Hysi, Pirro G., Choquet, Helene, Khawaja, Anthony P., Wojciechowski, Robert, Tedja, Milly S., Yin, Jie, Simcoe, Mark J., Patasova, Karina, Mahroo, Omar A., Thai, Khanh K., Cumberland, Phillippa M., Melles, Ronald B., Verhoeven, Virginie J. M., Vitart, Veronique, Segre, Ayellet, Stone, Richard A., Wareham, Nick, Hewitt, Alex W., Mackey, David A., Klaver, Caroline C. W., McGregor, Stuart, The Consortium for Refractive Error and Myopia, Peng Khaw, Foster, Paul J., UK Eye and Vision Consortium, ., Guggenheim, Jeremy, andMe Inc, ., Rahi, Jugnoo S., Jorgenson, Eric, and Hammond, Christopher J.

Subjects
genetic structures, eye diseases
Abstract

Refractive errors, in particular myopia, are a leading cause of morbidity and disability worldwide. Genetic investigation can improve understanding of the molecular mechanisms that underlie abnormal eye development and impaired vision. We conducted a meta-analysis of genome-wide association studies (GWAS) that involved 542,934 European participants and identified 336 novel genetic loci associated with refractive error. Collectively, all associated genetic variants explain 18.4% of heritability and improve the accuracy of myopia prediction (area under the curve (AUC) = 0.75). Our results suggest that refractive error is genetically heterogeneous, driven by genes that participate in the development of every anatomical component of the eye. In addition, our analyses suggest that genetic factors controlling circadian rhythm and pigmentation are also involved in the development of myopia and refractive error. These results may enable the prediction of refractive error and the development of personalized myopia prevention strategies in the future.

Published
2020

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

Author

Fan, Qiao, Pozarickij, Alfred, Tan, Nicholas Y. Q., Guo, Xiaobo, Verhoeven, Virginie J. M., Vitart, Veronique, Guggenheim, Jeremy A., Miyake, Masahiro, Tideman, J. Willem L., Khawaja, Anthony P., Zhang, Liang, MacGregor, Stuart, Höhn, René, Chen, Peng, Biino, Ginevra, Wedenoja, Juho, Saffari, Seyed Ehsan, Tedja, Milly S., Xie, Jing, Lanca, Carla, Wang, Ya Xing, Sahebjada, Srujana, Mazur, Johanna, Mirshahi, Alireza, Martin, Nicholas G., Yazar, Seyhan, Pennell, Craig E., Yap, Maurice, Haarman, Annechien E. G., Enthoven, Clair A., Polling, JanRoelof, Bailey-Wilson, Joan E., Veluchamy, Amutha Barathi, Burdon, Kathryn P., Campbell, Harry, Chen, Li Jia, Chew, Emily Y., Craig, Jamie E., Cumberland, Phillippa M., Deangelis, Margaret M., Delcourt, Cécile, Ding, Xiaohu, Evans, David M., Gharahkhani, Puya, Iglesias, Adriana I., Haller, Toomas, Han, Xikun, Hoang, Quan, Igo, Robert P., Iyengar, Sudha K., Kähönen, Mika, Kaprio, Jaakko, Klein, Barbara E., Klein, Ronald, Lass, Jonathan H., Lee, Kris, Lehtimäki, Terho, Lewis, Deyana D., Li, Qing, Li, Shi-Ming, Lyytikäinen, Leo-Pekka, Meguro, Akira, Metspalu, Andres, Middlebrooks, Candace D., Mizuki, Nobuhisa, Musolf, Anthony M., Nickels, Stefan, Oexle, Konrad, Pang, Chi Pui, Paterson, Andrew D., Rahi, Jugnoo S., Raitakari, Olli, Rudan, Igor, Stambolian, Dwight, Simpson, Claire L., Wang, Ningli, Bin Wei, Wen, Williams, Katie M., Wilson, James F., Wojciechowski, Robert, Yamashiro, Kenji, Yam, Jason C. S., Zhou, Xiangtian, Aslam, Tariq, Barman, Sarah A., Barrett, Jenny H., Bishop, Paul, Blows, Peter, Bunce, Catey, Carare, Roxana O., Chakravarthy, Usha, Chan, Michelle, Chua, Sharon Y. L., Crabb, David P., Cumberland, Philippa M., Day, Alexander, Desai, Parul, Dhillon, Bal, Dick, Andrew D., Egan, Cathy, Ennis, Sarah, Fruttiger, Marcus, Gallacher, John E. J., Garway-Heath, David F., Gibson, Jane, Gore, Dan, Hardcastle, Alison, Harding, Simon P., Hogg, Ruth E., Keane, Pearse A., Khaw, Sir Peng T., Lascaratos, Gerassimos, Lotery, Andrew J., Macgillivray, Tom, Mackie, Sarah, Martin, Keith, McGaughey, Michelle, McGuinness, Bernadette, McKay, Gareth J., McKibbin, Martin, Mitry, Danny, Moore, Tony, Morgan, James E., Muthy, Zaynah A., O’Sullivan, Eoin, Owen, Chris G., Patel, Praveen, Paterson, Euan, Peto, Tunde, Petzold, Axel, Rudnikca, Alicja R., Self, Jay, Sivaprasad, Sobha, Steel, David, Stratton, Irene, Strouthidis, Nicholas, Sudlow, Cathie, Thomas, Dhanes, Trucco, Emanuele, Tufail, Adnan, Vernon, Stephen A., Viswanathan, Ananth C., Williams, Katie, Woodside, Jayne V., Yates, Max M., Yip, Jennifer, Zheng, Yalin, Hewitt, Alex W., Jaddoe, Vincent W. V., van Duijn, Cornelia M., Hayward, Caroline, Polasek, Ozren, Tai, E-Shyong, Yoshikatsu, Hosoda, Hysi, Pirro G., Young, Terri L., Tsujikawa, Akitaka, Wang, Jie Jing, Mitchell, Paul, Pfeiffer, Norbert, Pärssinen, Olavi, Foster, Paul J., Fossarello, Maurizio, Yip, Shea Ping, Williams, Cathy, Hammond, Christopher J., Jonas, Jost B., He, Mingguang, Mackey, David A., Wong, Tien-Yin, Klaver, Caroline C. W., Saw, Seang-Mei, Baird, Paul N., and Cheng, Ching-Yu

Subjects
genetic structures, likinäköisyys, sense organs, geneettiset tekijät, eye diseases
Abstract

Corneal curvature, a highly heritable trait, is a key clinical endophenotype for myopia - a major cause of visual impairment and blindness in the world. Here we present a trans-ethnic meta-analysis of corneal curvature GWAS in 44,042 individuals of Caucasian and Asian with replication in 88,218 UK Biobank data. We identified 47 loci (of which 26 are novel), with population-specific signals as well as shared signals across ethnicities. Some identified variants showed precise scaling in corneal curvature and eye elongation (i.e. axial length) to maintain eyes in emmetropia (i.e. HDAC11/FBLN2 rs2630445, RBP3 rs11204213); others exhibited association with myopia with little pleiotropic effects on eye elongation. Implicated genes are involved in extracellular matrix organization, developmental process for body and eye, connective tissue cartilage and glycosylation protein activities. Our study provides insights into population-specific novel genes for corneal curvature, and their pleiotropic effect in regulating eye size or conferring susceptibility to myopia. peerReviewed

Published
2020

34. 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

Author

Stambolian, Dwight, Wojciechowski, Robert, Oexle, Konrad, Pirastu, Mario, Li, Xiaohui, Raffel, Leslie J., Cotch, Mary Frances, Chew, Emily Y., Klein, Barbara, Klein, Ronald, Wong, Tien Y., Simpson, Claire L., Klaver, Caroline C.W., van Duijn, Cornelia M., Verhoeven, Virginie J.M., Baird, Paul N., Vitart, Veronique, Paterson, Andrew D., Mitchell, Paul, Saw, Seang Mei, Fossarello, Maurizio, Kazmierkiewicz, Krista, Murgia, Federico, Portas, Laura, Schache, Maria, Richardson, Andrea, Xie, Jing, Wang, Jie Jin, Rochtchina, Elena, Viswanathan, Ananth C., Hayward, Caroline, Wright, Alan F., Polašek, Ozren, Campbell, Harry, Rudan, Igor, Oostra, Ben A., Uitterlinden, André G., Hofman, Albert, Rivadeneira, Fernando, Amin, Najaf, Karssen, Lennart C., Vingerling, Johannes R., Hosseini, S.M., Döring, Angela, Bettecken, Thomas, Vatavuk, Zoran, Gieger, Christian, Wichmann, H.-Erich, Wilson, James F., Fleck, Brian, Foster, Paul J., Topouzis, Fotis, McGuffin, Peter, Sim, Xueling, Inouye, Michael, Holliday, Elizabeth G., Attia, John, Scott, Rodney J., Rotter, Jerome I., Meitinger, Thomas, and Bailey-Wilson, Joan E.

Published
2013
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35. Faster Sensitivity Loss around Dense Scotomas than for Overall Macular Sensitivity in Stargardt Disease: ProgStar Report No. 14

Author

Schönbach, Etienne M., primary, Strauss, Rupert W., additional, Ibrahim, Mohamed A., additional, Janes, Jessica L., additional, Birch, David G., additional, Cideciyan, Artur V., additional, Sunness, Janet S., additional, Muñoz, Beatriz, additional, Ip, Michael S., additional, Sadda, SriniVas R., additional, Scholl, Hendrik P.N., additional, Wolfson, Yulia, additional, Bittencourt, Millena, additional, Shah, Syed Mahmood, additional, Ahmed, Mohamed, additional, Schönbach, Etienne, additional, Fujinami, Kaoru, additional, Traboulsi, Elias, additional, Ehlers, Justis, additional, Marino, Meghan, additional, Crowe, Susan, additional, Briggs, Rachael, additional, Borer, Angela, additional, Pinter, Anne, additional, Fecko, Tami, additional, Burgnoni, Nikki, additional, Applegate, Carol, additional, Russell, Leslie, additional, Michaelides, Michel, additional, Degli Esposti, Simona, additional, Moore, Anthony, additional, Webster, Andrew, additional, Connor, Sophie, additional, Barnfield, Jade, additional, Salchi, Zaid, additional, Alfageme, Clara, additional, McCudden, Victoria, additional, Pefkianaki, Maria, additional, Aboshiha, Jonathan, additional, Liew, Gerald, additional, Holder, Graham, additional, Robson, Anthony, additional, King, Alexa, additional, Cajas Narvaez, Daniela Ivanova, additional, Barnard, Katy, additional, Grigg, Catherine, additional, Dunbar, Hannah, additional, Obadeyi, Yetunde, additional, Girard-Claudon, Karine, additional, Swann, Hilary, additional, Rughani, Avani, additional, Amoah, Charles, additional, Carrington, Dominic, additional, Bibi, Kanom, additional, Ting, Emerson, additional, Illiyas, Mohamed Nafaz, additional, Begum, Hamida, additional, Carter, Andrew, additional, Georgiou, Anne, additional, Lewism, Selma, additional, Shaheen, Saddaf, additional, Shinmar, Harpreet, additional, Burton, Linda, additional, Bernstein, Paul, additional, Wegner, Kimberley, additional, Sawyer, Briana Lauren, additional, Carlstrom, Bonnie, additional, Farnsworth, Kellian, additional, Fry, Cyrie, additional, Chandler, Melissa, additional, Jenkins, Glen, additional, Creel, Donnel, additional, Birch, David, additional, Wang, Yi-Zhong, additional, Rodriguez, Luis, additional, Locke, Kirsten, additional, Klein, Martin, additional, Mejia, Paulina, additional, Jacobson, Samuel G., additional, Schwartz, Sharon B., additional, Matsui, Rodrigo, additional, Gruzensky, Michaela, additional, Charng, Jason, additional, Roman, Alejandro J., additional, Zrenner, Eberhart, additional, Nasser, Fadi, additional, Hahn, Gesa Astrid, additional, Wilhelm, Barbara, additional, Peters, Tobias, additional, Beier, Benjamin, additional, Koenig, Tilman, additional, Kramer, Susanne, additional, Sahel, José-Alain, additional, Mohand-Said, Saddek, additional, Audo, Isabelle, additional, Laurent-Coriat, Caroline, additional, Sliesoraityte, Ieva, additional, Zeitz, Christina, additional, Boyard, Fiona, additional, Tran, Minh Ha, additional, Chapon, Mathias, additional, Chaumette, Céline, additional, Amaudruz, Juliette, additional, Ganem, Victoria, additional, Sancho, Serge, additional, Girmens, Aurore, additional, Wojciechowski, Robert, additional, Khan, Shazia, additional, Emmert, David G., additional, Cain, Dennis, additional, Herring, Mark, additional, Bassinger, Jennifer, additional, Liberto, Lisa, additional, West, Sheila, additional, Ervin, Ann-Margret, additional, Munoz, Beatriz, additional, Kong, Xiangrong, additional, Dreger, Kurt, additional, Jones, Jennifer, additional, Sadda, Srinivas, additional, Jha, Anamika, additional, Ho, Alex, additional, Kramer, Brendan, additional, Lam, Ngoc, additional, Tawdros, Rita, additional, Zhou, Yong Dong, additional, Carmona, Johana, additional, Uji, Akihito, additional, Hariri, Amirhossein, additional, Lock, Amy, additional, Elshafei, Anthony, additional, Ganegoda, Anushika, additional, Petrossian, Christine, additional, Jenkins, Dennis, additional, Strnad, Edward, additional, Baghdasaryan, Elmira, additional, Ito, Eric, additional, Samson, Feliz, additional, Blanquel, Gloria, additional, Akil, Handan, additional, Melendez, Jhanisus, additional, Lei, Jianqin, additional, Huang, Jianyan, additional, Chau, Jonathan, additional, Falavarjani, Khalil G., additional, Espino, Kristina, additional, Li, Manfred, additional, Mendoza, Maria, additional, Nittala, Muneeswar Gupta, additional, Roded, Netali, additional, Saleh, Nizar, additional, Huang, Ping, additional, Pitetta, Sean, additional, Balasubramanian, Siva, additional, Leahy, Sophie, additional, Srinivas, Sowmya J., additional, Velaga, Swetha B., additional, Margaryan, Teresa, additional, Tepelus, Tudor, additional, Brown, Tyler, additional, Fan, Wenying, additional, Murillo, Yamileth, additional, Shi, Yue, additional, Aguilar, Katherine, additional, Chan, Cynthia, additional, Santos, Lisa, additional, Seo, Brian, additional, Sison, Christopher, additional, Perez, Silvia, additional, Chao, Stephanie, additional, Miyasato, Kelly, additional, Higgins, Julia, additional, Luna, Zoila, additional, Menchaca, Anita, additional, Gonzalez, Norma, additional, Robledo, Vicky, additional, Carig, Karen, additional, Baker, Kirstie, additional, Ellenbogen, David, additional, Bluemel, Daniel, additional, Sanford, Theo, additional, Linares, Daisy, additional, Tran, Mei, additional, Nava, Lorane, additional, Oberoi, Michelle, additional, Romero, Mark, additional, Chiguil, Vivian, additional, Bynum-Bain, Grantley, additional, Kim, Monica, additional, Mendiguren, Carolina, additional, Huang, Xiwen, additional, Smith, Monika, additional, and Sarreal, Natalie, additional

Published
2020
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36. Multi-trait genome-wide association study identifies new loci associated with optic disc parameters

Author

Bonnemaijer, Pieter WM, van Leeuwen, Elisabeth M, Iglesias, Adriana I, Gharahkhani, Puya, Vitart, Veronique, Khawaja, Anthony P, Simcoe, Mark, Hoehn, Rene, Cree, Angela J, Igo, Rob P, Burdon, Kathryn P, Craig, Jamie E, Hewitt, Alex W, Jonas, Jost, Khor, Chiea-Cheun, Pasutto, Francesca, Mackey, David A, Mitchell, Paul, Mishra, Aniket, Pang, Calvin, Pasquale, Louis R, Springelkamp, Henriette, Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Viswanathan, Ananth C, Wojciechowski, Robert, Wong, Tien, Young, Terrri L, Zeller, Tanja, Atan, Denize, Aslam, Tariq, Barman, Sarah A, Barrett, Jenny H, Bishop, Paul, Blows, Peter, Bunce, Catey, Carare, Roxana O, Chakravarthy, Usha, Chan, Michelle, Chua, Sharon YL, Crabb, David P, Cumberland, Philippa M, Day, Alexander, Desai, Parul, Dhillon, Bal, Dick, Andrew D, Egan, Cathy, Ennis, Sarah, Foster, Paul, Fruttiger, Marcus, Gallacher, John EJ, Garway, David F, Gibson, Jane, Gore, Dan, Guggenheim, Jeremy A, Hardcastle, Alison, Harding, Simon P, Hogg, Ruth E, Keane, Pearse A, Khaw, Peng T, Lascaratos, Gerassimos, Macgillivray, Tom, Mackie, Sarah, Martin, Keith, McGaughey, Michelle, McGuinness, Bernadette, Mckay, Gareth J, McKibbin, Martin, Mitry, Danny, Moore, Tony, Morgan, James E, Muthy, Zaynah A, O'Sullivan, Eoin, Owen, Chris G, Patel, Praveen, Paterson, Euan, Peto, Tunde, Petzold, Axel, Rahi, Jugnoo S, Rudnikca, Alicja R, Self, Jay, Sivaprasad, Sobha, Steel, David, Stratton, Irene, Strouthidis, Nicholas, Sudlow, Cathie, Thomas, Dhanes, Trucco, Emanuele, Tufail, Adnan, Vernon, Stephen A, Williams, Cathy, Williams, Katie, Woodside, Jayne V, Yates, Max M, Yip, Jennifer, Zheng, Yalin, Allingham, Rand, Budenz, Don, Bailey, Jessica Cooke, Fingert, John, Gaasterland, Douglas, Gaasterland, Teresa, Haines, Jonathan L, Hark, Lisa, Hauser, Michael, Kang, Jae Hee, Kraft, Peter, Lee, Richard, Lichter, Paul, Liu, Yutao, Moroi, Syoko, Pericak, Margaret, Realini, Anthony, Rhee, Doug, Richards, Julia R, Ritch, Robert, Scott, William K, Singh, Kuldev, Sit, Arthur, Vollrath, Douglas, Weinreb, Robert, Wollstein, Gadi, Wilmer, Don Zack, Gerhold-Ay, Aslihan, Nickels, Stefan, Wilson, James F, Hayward, Caroline, Boutin, Thibaud S, Polasek, Ozren, Aung, Tin, Khor, Chiea Chuen, Amin, Najaf, Lotery, Andrew J, Wiggs, Janey L, Cheng, Ching-Yu, Hysi, Pirro G, Hammond, Christopher J, Thiadens, Alberta AHJ, MacGregor, Stuart, Klaver, Caroline CW, van Duijn, Cornelia M, Consortium, Int Glaucoma Genetics, Consortium, Uk Biobank Eye Vision, Consortium, NEIGHBORHOOD, Epidemiology, Ophthalmology, Clinical Genetics, Bonnemaijer, Pieter WM [0000-0001-5154-6765], Iglesias, Adriana I [0000-0001-5532-764X], Gharahkhani, Puya [0000-0002-4203-5952], Vitart, Veronique [0000-0002-4991-3797], Khawaja, Anthony P [0000-0001-6802-8585], Simcoe, Mark [0000-0003-2432-0810], Nickels, Stefan [0000-0003-0415-2354], Wilson, James F [0000-0001-5751-9178], Hayward, Caroline [0000-0002-9405-9550], Boutin, Thibaud S [0000-0003-4754-1675], Khor, Chiea Chuen [0000-0002-1128-4729], Lotery, Andrew J [0000-0001-5541-4305], Wiggs, Janey L [0000-0003-1890-3278], Cheng, Ching-Yu [0000-0003-0655-885X], Hysi, Pirro G [0000-0001-5752-2510], Hammond, Christopher J [0000-0002-3227-2620], MacGregor, Stuart [0000-0001-6731-8142], Klaver, Caroline CW [0000-0002-2355-5258], and Apollo - University of Cambridge Repository

Subjects
genetic structures, Optic disk, Medicine (miscellaneous), Genome-wide association study, Neurodegenerative, Genome-wide association studies, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], 0302 clinical medicine, Optic Nerve Diseases, 2.1 Biological and endogenous factors, Aetiology, 610 Medicine & health, lcsh:QH301-705.5, 0303 health sciences, Agricultural and Biological Sciences(all), Single Nucleotide, medicine.anatomical_structure, NEIGHBORHOOD consortium, General Agricultural and Biological Sciences, Optic disc, Signal Transduction, Optic Disk, Quantitative Trait Loci, International Glaucoma Genetics Consortium, Quantitative trait locus, Biology, Genetic correlation, Polymorphism, Single Nucleotide, General Biochemistry, Genetics and Molecular Biology, Article, UK Biobank Eye and Vision Consortium, 03 medical and health sciences, Quantitative Trait, Quantitative Trait, Heritable, medicine, Genetics, Humans, Genetic Predisposition to Disease, 1000 Genomes Project, Polymorphism, Heritable, Eye Disease and Disorders of Vision, Genetic Association Studies, 030304 developmental biology, Genetic association, CENTRAL CORNEAL THICKNESS, METAANALYSIS, GLAUCOMA, EXPRESSION, HERITABILITY, PREVALENCE, STATISTICS, PANEL, Biochemistry, Genetics and Molecular Biology(all), Gene Expression Profiling, Haplotype, Human Genome, Computational Biology, Glaucoma, Molecular Sequence Annotation, eye diseases, lcsh:Biology (General), Evolutionary biology, Case-Control Studies, RE, sense organs, 030217 neurology & neurosurgery, Genome-Wide Association Study
Abstract

A new avenue of mining published genome-wide association studies includes the joint analysis of related traits. The power of this approach depends on the genetic correlation of traits, which reflects the number of pleiotropic loci, i.e. genetic loci influencing multiple traits. Here, we applied new meta-analyses of optic nerve head (ONH) related traits implicated in primary open-angle glaucoma (POAG); intraocular pressure and central corneal thickness using Haplotype reference consortium imputations. We performed a multi-trait analysis of ONH parameters cup area, disc area and vertical cup-disc ratio. We uncover new variants; rs11158547 in PPP1R36-PLEKHG3 and rs1028727 near SERPINE3 at genome-wide significance that replicate in independent Asian cohorts imputed to 1000 Genomes. At this point, validation of these variants in POAG cohorts is hampered by the high degree of heterogeneity. Our results show that multi-trait analysis is a valid approach to identify novel pleiotropic variants for ONH., The International Glaucoma Genetics Consortium reports a genome-wide association study meta-analysis of optic disc parameters relevant to primary open-angle glaucoma. They identify two novel variants in PPP1R36-PLEKHG3 and SERPINE3 by multi-trait analysis in European-ancestry cohorts that were replicated in independent Asian cohorts.

Published
2019

38. Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error

Author

Tedja, Milly S, Wojciechowski, Robert, Hysi, Pirro G, Eriksson, Nicholas, Furlotte, Nicholas A, Verhoeven, Virginie J M, Iglesias, Adriana I, Meester-Smoor, Magda A, Tompson, Stuart W, Fan, Qiao, Khawaja, Anthony P, Cheng, Ching-Yu, Höhn, René, Yamashiro, Kenji, Wenocur, Adam, Grazal, Clare, Haller, Toomas, Metspalu, Andres, Wedenoja, Juho, Jonas, Jost B, Wang, Ya Xing, Xie, Jing, Mitchell, Paul, Foster, Paul J, Klein, Barbara E K, Klein, Ronald, Paterson, Andrew D, Hosseini, S Mohsen, Shah, Rupal L, Williams, Cathy, Teo, Yik-Ying, Tham, Yih Chung, Gupta, Preeti, Zhao, Wanting, Shi, Yuan, Saw, Woei-Yuh, Tai, E-Shyong, Sim, Xue Ling, Huffman, Jennifer E, Polašek, Ozren, Hayward, Caroline, Bencic, Goran, Rudan, Igor, Wilson, James F, CREAM Consortium, Joshi, Peter K, Tsujikawa, Akitaka, Matsuda, Fumihiko, Whisenhunt, Kristina N, Zeller, Tanja, Van der Spek, P.J., Haak, R., Meijers-Heijboer, Hanne, van Leeuwen, Elisabeth M, Iyengar, Sudha K, Lass, J.H., Hofman, A., Rivadeneira, F., Uitterlinden, A.G., Vingerling, J.R., Lehtimaki, T., Raitakari, O.T., Biino, G., Concas, M.P., Schwantes-An, T.H., Igo, R.P., Cuellar-Partida, G., Martin, N.G., Craig, J.E., Gharahkhani, P., Williams, K.M., Naq, A., Rahi, J.S., Cumberland, P.M., Delcourt, C., Bellenquez, C., Ried, J.S., Bergen, Arthur A, Meitinger, T., Gieger, C., Wong, T.Y., Hewitt, A.W., Mackey, D.A., Simpson, C.L., Pfeiffer, N., Parssinen, O., Baird, P.N., Vitart, V., Amin, N., Van Duijn, C.M., Bailey-Wilson, J.E., Young, T.L., Saw, S.M., Stambolian, D., MacGregor, S., Guggenheim, J.A., Tung, J.Y., Hammond, C.J., Klaver, C.C.W., Tedja, Milly S, Wojciechowski, Robert, Hysi, Pirro G, Eriksson, Nicholas, Furlotte, Nicholas A, Verhoeven, Virginie J M, Iglesias, Adriana I, Meester-Smoor, Magda A, Tompson, Stuart W, Fan, Qiao, Khawaja, Anthony P, Cheng, Ching-Yu, Höhn, René, Yamashiro, Kenji, Wenocur, Adam, Grazal, Clare, Haller, Toomas, Metspalu, Andres, Wedenoja, Juho, Jonas, Jost B, Wang, Ya Xing, Xie, Jing, Mitchell, Paul, Foster, Paul J, Klein, Barbara E K, Klein, Ronald, Paterson, Andrew D, Hosseini, S Mohsen, Shah, Rupal L, Williams, Cathy, Teo, Yik-Ying, Tham, Yih Chung, Gupta, Preeti, Zhao, Wanting, Shi, Yuan, Saw, Woei-Yuh, Tai, E-Shyong, Sim, Xue Ling, Huffman, Jennifer E, Polašek, Ozren, Hayward, Caroline, Bencic, Goran, Rudan, Igor, Wilson, James F, CREAM Consortium, Joshi, Peter K, Tsujikawa, Akitaka, Matsuda, Fumihiko, Whisenhunt, Kristina N, Zeller, Tanja, Van der Spek, P.J., Haak, R., Meijers-Heijboer, Hanne, van Leeuwen, Elisabeth M, Iyengar, Sudha K, Lass, J.H., Hofman, A., Rivadeneira, F., Uitterlinden, A.G., Vingerling, J.R., Lehtimaki, T., Raitakari, O.T., Biino, G., Concas, M.P., Schwantes-An, T.H., Igo, R.P., Cuellar-Partida, G., Martin, N.G., Craig, J.E., Gharahkhani, P., Williams, K.M., Naq, A., Rahi, J.S., Cumberland, P.M., Delcourt, C., Bellenquez, C., Ried, J.S., Bergen, Arthur A, Meitinger, T., Gieger, C., Wong, T.Y., Hewitt, A.W., Mackey, D.A., Simpson, C.L., Pfeiffer, N., Parssinen, O., Baird, P.N., Vitart, V., Amin, N., Van Duijn, C.M., Bailey-Wilson, J.E., Young, T.L., Saw, S.M., Stambolian, D., MacGregor, S., Guggenheim, J.A., Tung, J.Y., Hammond, C.J., and Klaver, C.C.W.

Abstract

Refractive errors, including myopia, are the most frequent eye disorders worldwide and an increasingly common cause of blindness. This genome-wide association meta-analysis in 160,420 participants and replication in 95,505 participants increased the number of established independent signals from 37 to 161 and showed high genetic correlation between Europeans and Asians (>0.78). Expression experiments and comprehensive in silico analyses identified retinal cell physiology and light processing as prominent mechanisms, and also identified functional contributions to refractive-error development in all cell types of the neurosensory retina, retinal pigment epithelium, vascular endothelium and extracellular matrix. Newly identified genes implicate novel mechanisms such as rod-and-cone bipolar synaptic neurotransmission, anterior-segment morphology and angiogenesis. Thirty-one loci resided in or near regions transcribing small RNAs, thus suggesting a role for post-transcriptional regulation. Our results support the notion that refractive errors are caused by a light-dependent retina-to-sclera signaling cascade and delineate potential pathobiological molecular drivers.

Published
2018

39. Longitudinal Changes of Fixation Location and Stability Within 12 Months in Stargardt Disease: ProgStar Report No. 12

Author

Schönbach, Etienne M., primary, Strauss, Rupert W., additional, Kong, Xiangrong, additional, Muñoz, Beatriz, additional, Ibrahim, Mohamed A., additional, Sunness, Janet S., additional, Birch, David G., additional, Hahn, Gesa-Astrid, additional, Nasser, Fadi, additional, Zrenner, Eberhart, additional, Sadda, SriniVas R., additional, West, Sheila K., additional, Scholl, Hendrik P.N., additional, Wolfson, Yulia, additional, Bittencourt, Millena, additional, Shah, Syed Mahmood, additional, Ahmed, Mohamed, additional, Schönbach, Etienne, additional, Fujinami, Kaoru, additional, Traboulsi, Elias, additional, Ehlers, Justis, additional, Marino, Meghan, additional, Crowe, Susan, additional, Briggs, Rachael, additional, Borer, Angela, additional, Pinter, Anne, additional, Fecko, Tami, additional, Burgnoni, Nikki, additional, Applegate, Carol, additional, Russell, Leslie, additional, Michaelides, Michel, additional, Esposti, Simona Degli, additional, Moore, Anthony, additional, Webster, Andrew, additional, Connor, Sophie, additional, Barnfield, Jade, additional, Salchi, Zaid, additional, Alfageme, Clara, additional, McCudden, Victoria, additional, Pefkianaki, Maria, additional, Aboshiha, Jonathan, additional, Liew, Gerald, additional, Holder, Graham, additional, Robson, Anthony, additional, King, Alexa, additional, Narvaez, Daniela Ivanova Cajas, additional, Barnard, Katy, additional, Grigg, Catherine, additional, Dunbar, Hannah, additional, Obadeyi, Yetunde, additional, Girard-Claudon, Karine, additional, Swann, Hilary, additional, Rughani, Avani, additional, Amoah, Charles, additional, Carrington, Dominic, additional, Bibi, Kanom, additional, Co, Emerson Ting, additional, Illiyas, Mohamed Nafaz, additional, Begum, Hamida, additional, Carter, Andrew, additional, Georgiou, Anne, additional, Lewism, Selma, additional, Shaheen, Saddaf, additional, Shinmar, Harpreet, additional, Burton, Linda, additional, Bernstein, Paul, additional, Wegner, Kimberley, additional, Sawyer, Briana Lauren, additional, Carlstrom, Bonnie, additional, Farnsworth, Kellian, additional, Fry, Cyrie, additional, Chandler, Melissa, additional, Jenkins, Glen, additional, Creel, Donnel, additional, Birch, David, additional, Wang, Yi-Zhong, additional, Rodriguez, Luis, additional, Locke, Kirsten, additional, Klein, Martin, additional, Mejia, Paulina, additional, Cideciyan, Artur V., additional, Jacobson, Samuel G., additional, Schwartz, Sharon B., additional, Matsui, Rodrigo, additional, Gruzensky, Michaela, additional, Charng, Jason, additional, Roman, Alejandro J., additional, Hahn, Gesa Astrid, additional, Wilhelm, Barbara, additional, Peters, Tobias, additional, Beier, Benjamin, additional, Koenig, Tilman, additional, Kramer, Susanne, additional, Sahel, José-Alain, additional, Mohand-Said, Saddek, additional, Audo, Isabelle, additional, Laurent-Coriat, Caroline, additional, Sliesoraityte, Ieva, additional, Zeitz, Christina, additional, Boyard, Fiona, additional, Tran, Minh Ha, additional, Chapon, Mathias, additional, Chaumette, Céline, additional, Amaudruz, Juliette, additional, Ganem, Victoria, additional, Sancho, Serge, additional, Girmens, Aurore, additional, Wojciechowski, Robert, additional, Khan, Shazia, additional, Emmert, David G., additional, Cain, Dennis, additional, Herring, Mark, additional, Bassinger, Jennifer, additional, Liberto, Lisa, additional, West, Sheila, additional, Ervin, Ann-Margret, additional, Munoz, Beatriz, additional, Dreger, Kurt, additional, Jones, Jennifer, additional, Sadda, Srinivas, additional, Ip, Michael S., additional, Jha, Anamika, additional, Ho, Alex, additional, Kramer, Brendan, additional, Lam, Ngoc, additional, Tawdros, Rita, additional, Zhou, Yong Dong, additional, Carmona, Johana, additional, Uji, Akihito, additional, Hariri, Amirhossein, additional, Lock, Amy, additional, Elshafei, Anthony, additional, Ganegoda, Anushika, additional, Petrossian, Christine, additional, Jenkins, Dennis, additional, Strnad, Edward, additional, Baghdasaryan, Elmira, additional, Ito, Eric, additional, Samson, Feliz, additional, Blanquel, Gloria, additional, Akil, Handan, additional, Melendez, Jhanisus, additional, Lei, Jianqin, additional, Huang, Jianyan, additional, Chau, Jonathan, additional, Falavarjani, Khalil G., additional, Espino, Kristina, additional, Li, Manfred, additional, Mendoza, Maria, additional, Nittala, Muneeswar Gupta, additional, Roded, Netali, additional, Saleh, Nizar, additional, Huang, Ping, additional, Pitetta, Sean, additional, Balasubramanian, Siva, additional, Leahy, Sophie, additional, Srinivas, Sowmya J., additional, Velaga, Swetha B., additional, Margaryan, Teresa, additional, Tepelus, Tudor, additional, Brown, Tyler, additional, Fan, Wenying, additional, Murillo, Yamileth, additional, Shi, Yue, additional, Aguilar, Katherine, additional, Chan, Cynthia, additional, Santos, Lisa, additional, Seo, Brian, additional, Sison, Christopher, additional, Perez, Silvia, additional, Chao, Stephanie, additional, Miyasato, Kelly, additional, Higgins, Julia, additional, Luna, Zoila, additional, Menchaca, Anita, additional, Gonzalez, Norma, additional, Robledo, Vicky, additional, Carig, Karen, additional, Baker, Kirstie, additional, Ellenbogen, David, additional, Bluemel, Daniel, additional, Sanford, Theo, additional, Linares, Daisy, additional, Tran, Mei, additional, Nava, Lorane, additional, Oberoi, Michelle, additional, Romero, Mark, additional, Chiguil, Vivian, additional, Bynum-Bain, Grantley, additional, Kim, Monica, additional, Mendiguren, Carolina, additional, Huang, Xiwen, additional, Smith, Monika, additional, and Sarreal, Natalie, additional

Published
2018
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41. Genome-wide association study identifies WNT7B as a novel locus for central corneal thickness in Latinos

Author

Gao, Xiaoyi, Nannini, Drew R., Corrao, Kristen, Torres, Mina, Chen, Yii Der I., Fan, Bao J., Wiggs, Janey L., Taylor, Kent D., Gauderman, W. James, Rotter, Jerome I., Varma, Rohit, Aung, Tin, Burdon, Kathryn P., Cheng, Ching Yu, Craig, Jamie E., Cree, Angela J., Gharahkhani, Puya, Hammond, Christopher J., Hewitt, Alex W., Höhn, René, Hysi, Pirro, Gonzalez, Adriana I.Iglesias, Jonas, Jost, Khawaja, Anthony, Khor, Chiea Cheun, Klaver, Caroline C.W., Pasutto, Francesca, MacGregor, Stuart, Mackey, David, Mitchell, Paul, Mishra, Aniket, Pang, Calvin, Pasquale, Louis R., Springelkamp, Henriette, Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, van Duijn, Cornelia M., Viswanathan, Ananth, Vitart, Veronique, Wojciechowski, Robert, Wong, Tien, Young, Terrri L., Zeller, Tanja, Ophthalmology, Epidemiology, and Obstetrics & Gynecology

Subjects
0301 basic medicine, Adult, Male, genetic structures, Corneal Pachymetry, Genotype, Genetic genealogy, Population, Genome-wide association study, Single-nucleotide polymorphism, Biology, Keratoconus, Polymorphism, Single Nucleotide, Cornea, 03 medical and health sciences, SDG 3 - Good Health and Well-being, Genetics, Humans, 1000 Genomes Project, education, Molecular Biology, Genetics (clinical), Genetic association, Aged, education.field_of_study, Association Studies Articles, Glaucoma, General Medicine, Hispanic or Latino, Middle Aged, Los Angeles, Genetic architecture, eye diseases, Wnt Proteins, 030104 developmental biology, Genetic Loci, Female, sense organs, Imputation (genetics), Glaucoma, Open-Angle, Genome-Wide Association Study
Abstract

The cornea is the outermost layer of the eye and is a vital component of focusing incoming light on the retina. Central corneal thickness (CCT) is now recognized to have a significant role in ocular health and is a risk factor for various ocular diseases, such as keratoconus and primary open angle glaucoma. Most previous genetic studies utilized European and Asian subjects to identify genetic loci associated with CCT. Minority populations, such as Latinos, may aid in identifying additional loci and improve our understanding of the genetic architecture of CCT. In this study, we conducted a genome-wide association study (GWAS) in Latinos, a traditionally understudied population in genetic research, to further identify loci contributing to CCT. Study participants were genotyped using either the Illumina OmniExpress BeadChip (~730K markers) or the Illumina Hispanic/SOL BeadChip (~2.5 million markers). All study participants were 40 years of age and older. We assessed the association between individual single nucleotide polymorphisms (SNPs) and CCT using linear regression, adjusting for age, gender and principal components of genetic ancestry. To expand genomic coverage and to interrogate additional SNPs, we imputed SNPs from the 1000 Genomes Project reference panels. We identified a novel SNP, rs10453441 (P=6.01E-09), in an intron of WNT7B that is associated with CCT. Furthermore, WNT7B is expressed in the human cornea. We also replicated 11 previously reported loci, including IBTK, RXRA-COL5A1, COL5A1, FOXO1, LRRK1 and ZNF469 (P < 1.25E-3). These findings provide further insight into the genetic architecture of CCT and illustrate that the use of minority groups in GWAS will help identify additional loci.

Published
2016

42. Childhood gene-environment interactions and age-dependent effects of genetic variants associated with refractive error and myopia: The CREAM Consortium

Author

Fan, Qiao, Guo, Xiaobo, Tideman, J Willem L, Williams, Katie M, Yazar, Seyhan, Hosseini, S Mohsen, Howe, Laura D, Pourcain, Beaté St, Evans, David M, Timpson, Nicholas J, McMahon, George, Hysi, Pirro G, Krapohl, Eva, Wang, Ya Xing, Jonas, Jost B, Baird, Paul Nigel, Wang, Jie Jin, Cheng, Ching-Yu, Teo, Yik-Ying, Wong, Tien-Yin, Ding, Xiaohu, Wojciechowski, Robert, Young, Terri L, Pärssinen, Olavi, Oexle, Konrad, Pfeiffer, Norbert, Bailey-Wilson, Joan E, Paterson, Andrew D, Klaver, Caroline CW, Plomin, Robert, Hammond, Christopher J, Mackey, David A, He, Mingguang, Saw, Seang-Mei, Williams, Cathy, Guggenheim, Jeremy A, CREAM Consortium, Hosseini, S Mohsen [0000-0003-3626-9928], and Apollo - University of Cambridge Repository

Subjects
Male, Adolescent, Refractive Errors, Polymorphism, Single Nucleotide, Article, White People, Asian People, Myopia, Humans, Female, Gene-Environment Interaction, Genetic Predisposition to Disease, Longitudinal Studies, Age of Onset, Child, Genome-Wide Association Study
Abstract

Myopia, currently at epidemic levels in East Asia, is a leading cause of untreatable visual impairment. Genome-wide association studies (GWAS) in adults have identified 39 loci associated with refractive error and myopia. Here, the age-of-onset of association between genetic variants at these 39 loci and refractive error was investigated in 5200 children assessed longitudinally across ages 7-15 years, along with gene-environment interactions involving the major environmental risk-factors, nearwork and time outdoors. Specific variants could be categorized as showing evidence of: (a) early-onset effects remaining stable through childhood, (b) early-onset effects that progressed further with increasing age, or (c) onset later in childhood (N = 10, 5 and 11 variants, respectively). A genetic risk score (GRS) for all 39 variants explained 0.6% (P = 6.6E-08) and 2.3% (P = 6.9E-21) of the variance in refractive error at ages 7 and 15, respectively, supporting increased effects from these genetic variants at older ages. Replication in multi-ancestry samples (combined N = 5599) yielded evidence of childhood onset for 6 of 12 variants present in both Asians and Europeans. There was no indication that variant or GRS effects altered depending on time outdoors, however 5 variants showed nominal evidence of interactions with nearwork (top variant, rs7829127 in ZMAT4; P = 6.3E-04).

Published
2016

43. Childhood gene-environment interactions and age-dependent effects of genetic variants associated with refractive error and myopia:The CREAM Consortium

Author

Fan, Qiao, Guo, Xiaobo, Tideman, J. Willem L, Williams, Katie M., Yazar, Seyhan, Hosseini, S. Mohsen, Howe, Laura D., Pourcain, Beaté St, Evans, David M., Timpson, Nicholas J., McMahon, George, Hysi, Pirro G., Krapohl, Eva, Wang, Ya Xing, Jonas, Jost B., Baird, Paul Nigel, Wang, Jie Jin, Cheng, Ching Yu, Teo, Yik Ying, Wong, Tien Yin, Ding, Xiaohu, Wojciechowski, Robert, Young, Terri L., Pärssinen, Olavi, Oexle, Konrad, Pfeiffer, Norbert, Bailey-Wilson, Joan E., Paterson, Andrew D., Klaver, Caroline C W, Plomin, Robert, Hammond, Christopher J., He, Mingguang, Saw, Seang Mei, Guggenheim, Jeremy A., Meguro, Akira, Wright, Alan F., Hewitt, Alex W., Young, Alvin L., Veluchamy, Amutha Barathi, Metspalu, Andres, Döring, Angela, Khawaja, Anthony P., Klein, Barbara E., St Pourcain, Beate, Fleck, Brian, Hayward, Caroline, Williams, Cathy, Delcourt, Cécile, Pang, Chi Pui, Khor, Chiea Chuen, Gieger, Christian, Simpson, Claire L., Van Duijn, Cornelia M., Mackey, David A., Stambolian, Dwight, Chew, Emily, Tai, E. Shyong, Mihailov, Evelin, Smith, George Davey, Biino, Ginevra, Campbell, Harry, Rudan, Igor, Seppälä, Ilkka, Kaprio, Jaakko, Wilson, James F., Craig, Jamie E., Ried, Janina S., Korobelnik, Jean François, Fondran, Jeremy R., Liao, Jiemin, Zhao, Jing Hua, Xie, Jing, Kemp, John P., Lass, Jonathan H., Rahi, Jugnoo S., Wedenoja, Juho, Mäkelä, Kari Matti, Burdon, Kathryn P., Khaw, Kay Tee, Yamashiro, Kenji, Chen, Li Jia, Xu, Liang, Farrer, Lindsay, Ikram, M. Kamran, Deangelis, Margaret M., Morrison, Margaux, Schache, Maria, Pirastu, Mario, Miyake, Masahiro, Yap, Maurice K H, Fossarello, Maurizio, Kähönen, Mika, Tedja, Milly S., Yoshimura, Nagahisa, Martin, Nicholas G., Wareham, Nick J., Mizuki, Nobuhisa, Raitakari, Olli, Polasek, Ozren, Tam, Pancy O., Foster, Paul J., Mitchell, Paul, Chen, Peng, Cumberland, Phillippa, Gharahkhani, Puya, Höhn, René, Fogarty, Rhys D., Luben, Robert N., Igo, Robert P., Klein, Ronald, Janmahasatian, Sarayut, Yip, Shea Ping, Feng, Sheng, Vaccargiu, Simona, Panda-Jonas, Songhomitra, MacGregor, Stuart, Iyengar, Sudha K., Rantanen, Taina, Lehtimäki, Terho, Meitinger, Thomas, Aung, Tin, Haller, Toomas, Vitart, Veronique, Nangia, Vinay, Verhoeven, Virginie J M, Jhanji, Vishal, Zhao, Wanting, Chen, Wei, Zhou, Xiangtian, Lu, Yi, and Vatavuk, Zoran

Abstract

Myopia, currently at epidemic levels in East Asia, is a leading cause of untreatable visual impairment. Genome-wide association studies (GWAS) in adults have identified 39 loci associated with refractive error and myopia. Here, the age-of-onset of association between genetic variants at these 39 loci and refractive error was investigated in 5200 children assessed longitudinally across ages 7-15 years, along with gene-environment interactions involving the major environmental risk-factors, nearwork and time outdoors. Specific variants could be categorized as showing evidence of: (a) early-onset effects remaining stable through childhood, (b) early-onset effects that progressed further with increasing age, or (c) onset later in childhood (N = 10, 5 and 11 variants, respectively). A genetic risk score (GRS) for all 39 variants explained 0.6% (P = 6.6E-08) and 2.3% (P = 6.9E-21) of the variance in refractive error at ages 7 and 15, respectively, supporting increased effects from these genetic variants at older ages. Replication in multi-ancestry samples (combined N = 5599) yielded evidence of childhood onset for 6 of 12 variants present in both Asians and Europeans. There was no indication that variant or GRS effects altered depending on time outdoors, however 5 variants showed nominal evidence of interactions with nearwork (top variant, rs7829127 in ZMAT4; P = 6.3E-04).

Published
2016

44. Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error

Author

Fan, Qiao, Verhoeven, Virginie J M, Wojciechowski, Robert, Lehtimäki, Terho, Kähönen, Mika, Lääketieteen yksikkö - School of Medicine, and University of Tampere

Subjects
Biolääketieteet - Biomedicine
Abstract

Myopia is the most common human eye disorder and it results from complex genetic and environmental causes. The rapidly increasing prevalence of myopia poses a major public health challenge. Here, the CREAM consortium performs a joint meta-analysis to test single-nucleotide polymorphism (SNP) main effects and SNP × education interaction effects on refractive error in 40,036 adults from 25 studies of European ancestry and 10,315 adults from 9 studies of Asian ancestry. In European ancestry individuals, we identify six novel loci (FAM150B-ACP1, LINC00340, FBN1, DIS3L-MAP2K1, ARID2-SNAT1 and SLC14A2) associated with refractive error. In Asian populations, three genome-wide significant loci AREG, GABRR1 and PDE10A also exhibit strong interactions with education (P

Published
2016

45. Meta-analysis of 542,934 subjects of European ancestry identifies new genes and mechanisms predisposing to refractive error and myopia

Author

Hysi, Pirro G., Choquet, Hélène, Khawaja, Anthony P., Wojciechowski, Robert, Tedja, Milly S., Yin, Jie, Simcoe, Mark J., Patasova, Karina, Mahroo, Omar A., Thai, Khanh K., Cumberland, Phillippa M., Melles, Ronald B., Verhoeven, Virginie J. M., Vitart, Veronique, Segre, Ayellet, Stone, Richard A., Wareham, Nick, Hewitt, Alex W., Mackey, David A., Klaver, Caroline C. W., MacGregor, Stuart, Khaw, Peng T., Foster, Paul J., Guggenheim, Jeremy A., Rahi, Jugnoo S., Jorgenson, Eric, and Hammond, Christopher J.

Abstract

Refractive errors, in particular myopia, are a leading cause of morbidity and disability worldwide. Genetic investigation can improve understanding of the molecular mechanisms that underlie abnormal eye development and impaired vision. We conducted a meta-analysis of genome-wide association studies (GWAS) that involved 542,934 European participants and identified 336 novel genetic loci associated with refractive error. Collectively, all associated genetic variants explain 18.4% of heritability and improve the accuracy of myopia prediction (area under the curve (AUC) = 0.75). Our results suggest that refractive error is genetically heterogeneous, driven by genes that participate in the development of every anatomical component of the eye. In addition, our analyses suggest that genetic factors controlling circadian rhythm and pigmentation are also involved in the development of myopia and refractive error. These results may enable the prediction of refractive error and the development of personalized myopia prevention strategies in the future.

Published
2020
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46. Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression

Author

Craig, Jamie E., Han, Xikun, Qassim, Ayub, Hassall, Mark, Cooke Bailey, Jessica N., Kinzy, Tyler G., Khawaja, Anthony P., An, Jiyuan, Marshall, Henry, Gharahkhani, Puya, Igo, Robert P., Graham, Stuart L., Healey, Paul R., Ong, Jue-Sheng, Zhou, Tiger, Siggs, Owen, Law, Matthew H., Souzeau, Emmanuelle, Ridge, Bronwyn, Hysi, Pirro G., Burdon, Kathryn P., Mills, Richard A., Landers, John, Ruddle, Jonathan B., Agar, Ashish, Galanopoulos, Anna, White, Andrew J. R., Willoughby, Colin E., Andrew, Nicholas H., Best, Stephen, Vincent, Andrea L., Goldberg, Ivan, Radford-Smith, Graham, Martin, Nicholas G., Montgomery, Grant W., Vitart, Veronique, Hoehn, Rene, Wojciechowski, Robert, Jonas, Jost B., Aung, Tin, Pasquale, Louis R., Cree, Angela Jane, Sivaprasad, Sobha, Vallabh, Neeru A., Viswanathan, Ananth C., Pasutto, Francesca, Haines, Jonathan L., Klaver, Caroline C. W., van Duijn, Cornelia M., Casson, Robert J., Foster, Paul J., Khaw, Peng Tee, Hammond, Christopher J., Mackey, David A., Mitchell, Paul, Lotery, Andrew J., Wiggs, Janey L., Hewitt, Alex W., and MacGregor, Stuart

Abstract

Glaucoma, a disease characterized by progressive optic nerve degeneration, can be prevented through timely diagnosis and treatment. We characterize optic nerve photographs of 67,040 UK Biobank participants and use a multitrait genetic model to identify risk loci for glaucoma. A glaucoma polygenic risk score (PRS) enables effective risk stratification in unselected glaucoma cases and modifies penetrance of the MYOCvariant encoding p.Gln368Ter, the most common glaucoma-associated myocilin variant. In the unselected glaucoma population, individuals in the top PRS decile reach an absolute risk for glaucoma 10 years earlier than the bottom decile and are at 15-fold increased risk of developing advanced glaucoma (top 10% versus remaining 90%, odds ratio = 4.20). The PRS predicts glaucoma progression in prospectively monitored, early manifest glaucoma cases (P= 0.004) and surgical intervention in advanced disease (P= 3.6 × 10−6). This glaucoma PRS will facilitate the development of a personalized approach for earlier treatment of high-risk individuals, with less intensive monitoring and treatment being possible for lower-risk groups.

Published
2020
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47. Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8.

Author

Kaoru Fujinami, Strauss, Rupert W., (Pei-Wen) Chiang, John, Audo, Isabelle S., Bernstein, Paul S., Birch, David G., Bomotti, Samantha M., Cideciyan, Artur V., Ervin, Ann-Margret, Marino, Meghan J., Sahel, José-Alain, Mohand-Said, Saddek, Sunness, Janet S., Traboulsi, Elias I., West, Sheila, Wojciechowski, Robert, Zrenner, Eberhart, Michaelides, Michel, and Scholl, Hendrik P. N.

Abstract

Background/aims To describe the genetic characteristics of the cohort enrolled in the international multicentre progression of Stargardt disease 1 (STGD1) studies (ProgStar) and to determine geographic differences based on the allele frequency. Methods 345 participants with a clinical diagnosis of STGD1 and harbouring at least one disease-causing ABCA4 variant were enrolled from 9 centres in the USA and Europe. All variants were reviewed and in silico analysis was performed including allele frequency in public databases and pathogenicity predictions. Participants with multiple likely pathogenic variants were classified into four national subgroups (USA, UK, France, Germany), with subsequent comparison analysis of the allele frequency for each prevalent allele. Results 211 likely pathogenic variants were identified in the total cohort, including missense (63%), splice site alteration (18%), stop (9%) and others. 50 variants were novel. Exclusively missense variants were detected in 139 (50%) of 279 patients with multiple pathogenic variants. The three most prevalent variants of these patients with multiple pathogenic variants were p.G1961E (15%), p.G863A (7%) and c.5461-10 T>C (5%). Subgroup analysis revealed a statistically significant difference between the four recruiting nations in the allele frequency of nine variants. Conclusions There is a large spectrum of ABCA4 sequence variants, including 50 novel variants, in a wellcharacterised cohort thereby further adding to the unique allelic heterogeneity in STGD1. Approximately half of the cohort harbours missense variants only, indicating a relatively mild phenotype of the ProgStar cohort. There are significant differences in allele frequencies between nations, although the three most prevalent variants are shared as frequent variants. [ABSTRACT FROM AUTHOR]

Published
2019
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48. Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 loci

Author

Simpson, C.L., Wojciechowski, Robert, Polašek, Ozren, Benčić, Goran, and Stambolian, D.

Subjects
genetic structures, gene, SNP, genetics, eye diseases
Abstract

Refractive error (RE) is a complex, multifactorial disorder characterized by a mismatch between the optical power of the eye and its axial length that causes object images to be focused off the retina. The two major subtypes of RE are myopia (nearsightedness) and hyperopia (farsightedness), which represent opposite ends of the distribution of the quantitative measure of spherical refraction. We performed a fixed effects meta-analysis of genome-wide association results of myopia and hyperopia from 9 studies of European-derived populations: AREDS, KORA, FES, OGP-Talana, MESA, RSI, RSII, RSIII and ERF. One genome-wide significant region was observed for myopia, corresponding to a previously identified myopia locus on 8q12 (p = 1.25×10(-8)), which has been reported by Kiefer et al. as significantly associated with myopia age at onset and Verhoeven et al. as significantly associated to mean spherical-equivalent (MSE) refractive error. We observed two genome-wide significant associations with hyperopia. These regions overlapped with loci on 15q14 (minimum p value = 9.11×10(-11)) and 8q12 (minimum p value 1.82×10(-11)) previously reported for MSE and myopia age at onset. We also used an intermarker linkage- disequilibrium-based method for calculating the effective number of tests in targeted regional replication analyses. We analyzed myopia (which represents the closest phenotype in our data to the one used by Kiefer et al.) and showed replication of 10 additional loci associated with myopia previously reported by Kiefer et al. This is the first replication of these loci using myopia as the trait under analysis. "Replication-level" association was also seen between hyperopia and 12 of Kiefer et al.'s published loci. For the loci that show evidence of association to both myopia and hyperopia, the estimated effect of the risk alleles were in opposite directions for the two traits. This suggests that these loci are important contributors to variation of refractive error across the distribution.

Published
2014

49. Visual Acuity Loss and Associated Risk Factors in the Retrospective Progression of Stargardt Disease Study (ProgStar Report No. 2)

Author

Kong, Xiangrong, primary, Strauss, Rupert W., additional, Michaelides, Michel, additional, Cideciyan, Artur V., additional, Sahel, José-Alain, additional, Muñoz, Beatriz, additional, West, Sheila, additional, Scholl, Hendrik P.N., additional, Wolfson, Yulia, additional, Bittencourt, Millena, additional, Shah, Syed Mahmood, additional, Ahmed, Mohammed, additional, Schonbach, Etienne, additional, Fujinami, Kaoru, additional, Traboulsi, Elias, additional, Ehlers, Justis, additional, Marino, Meghan, additional, Crowe, Susan, additional, Briggs, Rachael, additional, Borer, Angela, additional, Pinter, Anne, additional, Fecko, Tami, additional, Brugnoni, Nikki, additional, Sunness, Janet S., additional, Applegate, Carol, additional, Russell, Leslie, additional, Moore, Anthony, additional, Webster, Andrew, additional, Connor, Sophie, additional, McCudden, Victoria, additional, Pefkianaki, Maria, additional, Aboshiha, Jonathan, additional, Liew, Gerald, additional, Holder, Graham, additional, Robson, Anthony, additional, King, Alexa, additional, Cajas Narvaez, Daniela Ivanova, additional, Barnard, Katy, additional, Grigg, Catherine, additional, Dunbar, Hannah, additional, Obadeyi, Yetunde, additional, Girard-Claudon, Karine, additional, Swann, Hilary, additional, Rughani, Avani, additional, Amoah, Charles, additional, Carrington, Dominic, additional, Bibi, Kanom, additional, Co, Emerson Ting, additional, Carter, Andrew, additional, Georgiou, Anne, additional, Lewis, Selma, additional, Shaheen, Saddaf, additional, Shinmar, Harpreet, additional, Burton, Linda, additional, Bernstein, Paul, additional, Wegner, Kimberley, additional, Sawyer, Briana Lauren, additional, Carlstrom, Bonnie, additional, Farnsworth, Kellian, additional, Fry, Cyrie, additional, Chandler, Melissa, additional, Jenkins, Glen, additional, Creel, Donnel, additional, Birch, David, additional, Wang, Yi-Zhong, additional, Rodriguez, Luis, additional, Locke, Kirsten, additional, Klein, Martin, additional, Mejia, Paulina, additional, Jacobson, Samuel G., additional, Schwartz, Sharon B., additional, Matsui, Rodrigo, additional, Gruzensky, Michaela, additional, Roman, Alejandro J., additional, Zrenner, Eberhart, additional, Nasser, Fadi, additional, Hahn, Gesa Astrid, additional, Wilhelm, Barbara, additional, Peters, Tobias, additional, Beier, Benjamin, additional, Koenig, Tilman, additional, Kramer, Susanne, additional, Mohand-Said, Saddek, additional, Audo, Isabelle, additional, Laurent-Coriat, Caroline, additional, Sliesoraityte, Ieva, additional, Zeitz, Christina, additional, Boyard, Fiona, additional, Tran, Minh Ha, additional, Chapon, Mathias, additional, Chaumette, Céline, additional, Amaudruz, Juliette, additional, Ganem, Victoria, additional, Sancho, Serge, additional, Girmens, Aurore, additional, Wojciechowski, Robert, additional, Khan, Shazia, additional, Emmert, David G., additional, Cain, Dennis, additional, Herring, Mark, additional, Bassinger, Jennifer, additional, Liberto, Lisa, additional, Ervin, Ann-Margret, additional, Munoz, Beatriz, additional, Kong, Xiangrong, additional, Dreger, Kurt, additional, Jones, Jennifer, additional, Sadda, Srinivas, additional, Jha, Anamika, additional, Ho, Alex, additional, Kramer, Brendan, additional, Hariri, Amirhossein, additional, Blanquel, Gloria Rebecca, additional, Lam, Ngoc, additional, Pitetta, Sean, additional, Shi, Yue, additional, Tawdros, Rita, additional, Petrossian, Christine, additional, Jenkins, Dennis, additional, Gupta, Muneeswar, additional, Zhou, Yong Dong, additional, Aguilar, Katherine, additional, Chan, Cynthia, additional, Santos, Lisa, additional, Seo, Brian, additional, Sison, Christopher, additional, Perez, Silvia, additional, Chao, Stephanie, additional, Miyasato, Kelly, additional, Higgins, Julia, additional, Luna, Zoila, additional, Menchaca, Anita, additional, Gonzalez, Norma, additional, Robledo, Vicky, additional, Carig, Karen, additional, Baker, Kirstie, additional, Ellenbogen, David, additional, Russell, James, additional, Bluemel, Daniel, additional, Moreno, Alex, additional, Pham, Royal, additional, Sanford, Theo, additional, Linares, Daisy, additional, and Tran, Mei, additional

Published
2016
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50. Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error

Author

University of Helsinki, Clinicum, Li, Qing, Wojciechowski, Robert, Simpson, Claire L., Hysi, Pirro G., Verhoeven, Virginie J. M., Ikram, Mohammad Kamran, Hoehn, Rene, Vitart, Veronique, Hewitt, Alex W., Oexle, Konrad, Makela, Kari-Matti, MacGregor, Stuart, Pirastu, Mario, Fan, Qiao, Cheng, Ching-Yu, St Pourcain, Beat, McMahon, George, Kemp, John P., Northstone, Kate, Rahi, Jugnoo S., Cumberland, Phillippa M., Martin, Nicholas G., Sanfilippo, Paul G., Lu, Yi, Wang, Ya Xing, Hayward, Caroline, Polasek, Ozren, Campbell, Harry, Bencic, Goran, Wright, Alan F., Wedenoja, Juho, Zeller, Tanja, Schillert, Arne, Mirshahi, Alireza, Lackner, Karl, Yip, Shea Ping, Yap, Maurice K. H., Ried, Janina S., Gieger, Christian, Murgia, Federico, Wilson, James F., Fleck, Brian, Yazar, Seyhan, Vingerling, Johannes R., Hofman, Albert, Uitterlinden, Andre, Rivadeneira, Fernando, Amin, Najaf, Karssen, Lennart, Oostra, Ben A., Zhou, Xin, Teo, Yik-Ying, Tai, E. Shyong, Vithana, Eranga, Barathi, Veluchamy, Zheng, Yingfeng, Siantar, Rosalynn Grace, Neelam, Kumari, Shin, Youchan, Lam, Janice, Yonova-Doing, Ekaterina, Venturini, Cristina, Hosseini, S. Mohsen, Wong, Hoi-Suen, Lehtimaki, Terho, Kahonen, Mika, Raitakari, Olli, Timpson, Nicholas J., Evans, David M., Khor, Chiea-Chuen, Aung, Tin, Young, Terri L., Mitchell, Paul, Klein, Barbara, van Duijn, Cornelia M., Meitinger, Thomas, Jonas, Jost B., Baird, Paul N., Mackey, David A., Wong, Tien Yin, Saw, Seang-Mei, Parssinen, Olavi, Stambolian, Dwight, Hammond, Christopher J., Klaver, Caroline C. W., Williams, Cathy, Paterson, Andrew D., Bailey-Wilson, Joan E., Guggenheim, Jeremy A., CREAM Consortium, University of Helsinki, Clinicum, Li, Qing, Wojciechowski, Robert, Simpson, Claire L., Hysi, Pirro G., Verhoeven, Virginie J. M., Ikram, Mohammad Kamran, Hoehn, Rene, Vitart, Veronique, Hewitt, Alex W., Oexle, Konrad, Makela, Kari-Matti, MacGregor, Stuart, Pirastu, Mario, Fan, Qiao, Cheng, Ching-Yu, St Pourcain, Beat, McMahon, George, Kemp, John P., Northstone, Kate, Rahi, Jugnoo S., Cumberland, Phillippa M., Martin, Nicholas G., Sanfilippo, Paul G., Lu, Yi, Wang, Ya Xing, Hayward, Caroline, Polasek, Ozren, Campbell, Harry, Bencic, Goran, Wright, Alan F., Wedenoja, Juho, Zeller, Tanja, Schillert, Arne, Mirshahi, Alireza, Lackner, Karl, Yip, Shea Ping, Yap, Maurice K. H., Ried, Janina S., Gieger, Christian, Murgia, Federico, Wilson, James F., Fleck, Brian, Yazar, Seyhan, Vingerling, Johannes R., Hofman, Albert, Uitterlinden, Andre, Rivadeneira, Fernando, Amin, Najaf, Karssen, Lennart, Oostra, Ben A., Zhou, Xin, Teo, Yik-Ying, Tai, E. Shyong, Vithana, Eranga, Barathi, Veluchamy, Zheng, Yingfeng, Siantar, Rosalynn Grace, Neelam, Kumari, Shin, Youchan, Lam, Janice, Yonova-Doing, Ekaterina, Venturini, Cristina, Hosseini, S. Mohsen, Wong, Hoi-Suen, Lehtimaki, Terho, Kahonen, Mika, Raitakari, Olli, Timpson, Nicholas J., Evans, David M., Khor, Chiea-Chuen, Aung, Tin, Young, Terri L., Mitchell, Paul, Klein, Barbara, van Duijn, Cornelia M., Meitinger, Thomas, Jonas, Jost B., Baird, Paul N., Mackey, David A., Wong, Tien Yin, Saw, Seang-Mei, Parssinen, Olavi, Stambolian, Dwight, Hammond, Christopher J., Klaver, Caroline C. W., Williams, Cathy, Paterson, Andrew D., Bailey-Wilson, Joan E., Guggenheim, Jeremy A., and CREAM Consortium

Published
2015

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