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1. Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy

Author

de Muijnck, Cansu, Haer-Wigman, Lonneke, van Everdingen, Judith A. M., Lushchyk, Tanya, Heutinck, Pam A. T., van Dooren, Marieke F., Kievit, Anneke J. A., Verhoeven, Virginie J. M., Simon, Marleen E. H., Wasmann, Rosemarie A., Notting, Irene C., De Baere, Elfride, Walraedt, Sophie, De Zaeytijd, Julie, Van den Broeck, Filip, Leroy, Bart P., Boon, Camiel J. F., and van Genderen, Maria M.

Published
2024
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2. 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., Biino, Ginevra, Klein, Alison P., Duggal, Priya, Mackey, David A., Hayward, Caroline, Haller, Toomas, Metspalu, Andres, Wedenoja, Juho, Pärssinen, Olavi, Cheng, Ching-Yu, 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.

Published
2023
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4. The Genetics of Myopia

Author

Tedja, Milly S., Haarman, Annechien E. G., Meester-Smoor, Magda A., Verhoeven, Virginie J. M., Klaver, Caroline C. W., MacGregor, Stuart, Ang, Marcus, editor, and Wong, Tien Y., editor

Published
2020
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7. The Genetics of Myopia

Author

Tedja, Milly S., primary, Haarman, Annechien E. G., additional, Meester-Smoor, Magda A., additional, Verhoeven, Virginie J. M., additional, Klaver, Caroline C. W., additional, and MacGregor, Stuart, additional

Published
2019
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8. 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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9. IMI—Management and Investigation of High Myopia in Infants and Young Children

Author

Flitcroft, Ian, primary, Ainsworth, John, additional, Chia, Audrey, additional, Cotter, Susan, additional, Harb, Elise, additional, Jin, Zi-Bing, additional, Klaver, Caroline C. W., additional, Moore, Anthony T., additional, Nischal, Ken K., additional, Ohno-Matsui, Kyoko, additional, Paysse, Evelyn A., additional, Repka, Michael X., additional, Smirnova, Irina Y., additional, Snead, Martin, additional, Verhoeven, Virginie J. M., additional, and Verkicharla, Pavan K., additional

Published
2023
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11. Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis

Author

Novartis, Foundation Fighting Blindness, Ghent University, Research Foundation - Flanders, European Commission, Panneman, Daan M., Hitti-Malin, Rebekkah J., Holtes, Lara K., Bruijn, Suzanne E. de, Reurink, Janine, Boonen, Erica G. M., Khan, Muhammad Imran, Ali, Manir, Andréasson, Sten, De Baere, Elfride, Banfi, Sandro, Bauwens, Miriam, Ben-Yosef, Tamar, Bocquet, Béatrice, De Bruyne, Marieke, Cerda, Berta de la, Coppieters, Frauke, Farinelli, Pietro, Guignard, Thomas, Inglehearn, Chris F., Karali, Marianthi, Kjellström, Ulrika, Koenekoop, Robert, Koning, Bart de, Leroy, Bart P., McKibbin, Martin, Meunier, Isabelle, Nikopoulos, Konstantinos, Nishiguchi, Koji M., Poulter, James A., Rivolta, Carlo, Rodríguez de la Rúa, Enrique, Saunders, Patrick, Simonelli, Francesca, Tatour, Yasmin, Testa, Francesco, Thiadens, Alberta A. H. J., Toomes, Carmel, Tracewska, Anna M., Tran, Hoai Viet, Ushida, Hiroaki, Vaclavik, Veronika, Verhoeven, Virginie J. M., Vorst, Maartje van de, Gilissen, Christian, Hoischen, Alexander, Cremers, Frans P. M., Roosing, Susanne, Novartis, Foundation Fighting Blindness, Ghent University, Research Foundation - Flanders, European Commission, Panneman, Daan M., Hitti-Malin, Rebekkah J., Holtes, Lara K., Bruijn, Suzanne E. de, Reurink, Janine, Boonen, Erica G. M., Khan, Muhammad Imran, Ali, Manir, Andréasson, Sten, De Baere, Elfride, Banfi, Sandro, Bauwens, Miriam, Ben-Yosef, Tamar, Bocquet, Béatrice, De Bruyne, Marieke, Cerda, Berta de la, Coppieters, Frauke, Farinelli, Pietro, Guignard, Thomas, Inglehearn, Chris F., Karali, Marianthi, Kjellström, Ulrika, Koenekoop, Robert, Koning, Bart de, Leroy, Bart P., McKibbin, Martin, Meunier, Isabelle, Nikopoulos, Konstantinos, Nishiguchi, Koji M., Poulter, James A., Rivolta, Carlo, Rodríguez de la Rúa, Enrique, Saunders, Patrick, Simonelli, Francesca, Tatour, Yasmin, Testa, Francesco, Thiadens, Alberta A. H. J., Toomes, Carmel, Tracewska, Anna M., Tran, Hoai Viet, Ushida, Hiroaki, Vaclavik, Veronika, Verhoeven, Virginie J. M., Vorst, Maartje van de, Gilissen, Christian, Hoischen, Alexander, Cremers, Frans P. M., and Roosing, Susanne

Abstract

Introduction: Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are two groups of inherited retinal diseases (IRDs) where the rod photoreceptors degenerate followed by the cone photoreceptors of the retina. A genetic diagnosis for IRDs is challenging since >280 genes are associated with these conditions. While whole exome sequencing (WES) is commonly used by diagnostic facilities, the costs and required infrastructure prevent its global applicability. Previous studies have shown the cost-effectiveness of sequence analysis using single molecule Molecular Inversion Probes (smMIPs) in a cohort of patients diagnosed with Stargardt disease and other maculopathies. Methods: Here, we introduce a smMIPs panel that targets the exons and splice sites of all currently known genes associated with RP and LCA, the entire RPE65 gene, known causative deep-intronic variants leading to pseudo-exons, and part of the RP17 region associated with autosomal dominant RP, by using a total of 16,812 smMIPs. The RP-LCA smMIPs panel was used to screen 1,192 probands from an international cohort of predominantly RP and LCA cases. Results and discussion: After genetic analysis, a diagnostic yield of 56% was obtained which is on par with results from WES analysis. The effectiveness and the reduced costs compared to WES renders the RP-LCA smMIPs panel a competitive approach to provide IRD patients with a genetic diagnosis, especially in countries with restricted access to genetic testing.

Published
2023

12. Myopia control in Mendelian forms of myopia

Author

van der Sande, Emilie, primary, Polling, Jan Roelof, additional, Tideman, J. Willem L., additional, Meester‐Smoor, Magda A., additional, Thiadens, Alberta A. H. J., additional, Tan, Emily, additional, De Zeeuw, Chris I., additional, Hamelink, Ralph, additional, Willuhn, Ingo, additional, Verhoeven, Virginie J. M., additional, Winkelman, Beerend H. J., additional, and Klaver, Caroline C. W., additional

Published
2023
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13. Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis

Author

Panneman, Daan M., primary, Hitti-Malin, Rebekkah J., additional, Holtes, Lara K., additional, de Bruijn, Suzanne E., additional, Reurink, Janine, additional, Boonen, Erica G. M., additional, Khan, Muhammad Imran, additional, Ali, Manir, additional, Andréasson, Sten, additional, De Baere, Elfride, additional, Banfi, Sandro, additional, Bauwens, Miriam, additional, Ben-Yosef, Tamar, additional, Bocquet, Béatrice, additional, De Bruyne, Marieke, additional, Cerda, Berta de la, additional, Coppieters, Frauke, additional, Farinelli, Pietro, additional, Guignard, Thomas, additional, Inglehearn, Chris F., additional, Karali, Marianthi, additional, Kjellström, Ulrika, additional, Koenekoop, Robert, additional, de Koning, Bart, additional, Leroy, Bart P., additional, McKibbin, Martin, additional, Meunier, Isabelle, additional, Nikopoulos, Konstantinos, additional, Nishiguchi, Koji M., additional, Poulter, James A., additional, Rivolta, Carlo, additional, Rodríguez de la Rúa, Enrique, additional, Saunders, Patrick, additional, Simonelli, Francesca, additional, Tatour, Yasmin, additional, Testa, Francesco, additional, Thiadens, Alberta A. H. J., additional, Toomes, Carmel, additional, Tracewska, Anna M., additional, Tran, Hoai Viet, additional, Ushida, Hiroaki, additional, Vaclavik, Veronika, additional, Verhoeven, Virginie J. M., additional, van de Vorst, Maartje, additional, Gilissen, Christian, additional, Hoischen, Alexander, additional, Cremers, Frans P. M., additional, and Roosing, Susanne, additional

Published
2023
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14. Prevalence of refractive error in Europe: the European Eye Epidemiology (E³) Consortium

Author

Williams, Katie M., Verhoeven, Virginie J. M., Cumberland, Phillippa, Bertelsen, Geir, Wolfram, Christian, Buitendijk, Gabriëlle H. S., Hofman, Albert, van Duijn, Cornelia M., Vingerling, Johannes R., Kuijpers, Robert W. A. M., Höhn, René, Mirshahi, Alireza, Khawaja, Anthony P., Luben, Robert N., Erke, Maja Gran, von Hanno, Therese, Mahroo, Omar, Hogg, Ruth, Gieger, Christian, Cougnard-Grégoire, Audrey, Anastasopoulos, Eleftherios, Bron, Alain, Dartigues, Jean-François, Korobelnik, Jean-François, Creuzot-Garcher, Catherine, Topouzis, Fotis, Delcourt, Cécile, Rahi, Jugnoo, Meitinger, Thomas, Fletcher, Astrid, Foster, Paul J., Pfeiffer, Norbert, Klaver, Caroline C. W., and Hammond, Christopher J.

Published
2015

15. Association analyses of rare variants identify two genes associated with refractive error

Author

Patasova, Karina, Haarman, Annechien E. G., Musolf, Anthony M., Mahroo, Omar A., Rahi, Jugnoo S., Falchi, Mario, Verhoeven, Virginie J. M., Bailey-Wilson, Joan E., Klaver, Caroline C. W., Duggal, Priya, Klein, Alison, Guggenheim, Jeremy A., Hammond, Chris J., Hysi, Pirro G., the CREAM Consortium, the UK Biobank Eye, Vision Consortium, Wang, Heming, Ophthalmology, Epidemiology, and Clinical Genetics

Subjects
Multidisciplinary, Gene Frequency, Humans, Genetic Predisposition to Disease, Refractive Errors, Polymorphism, Single Nucleotide, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Genome-Wide Association Study, Transcription Factors
Abstract

Purpose Genetic variants identified through population-based genome-wide studies are generally of high frequency, exerting their action in the central part of the refractive error spectrum. However, the power to identify associations with variants of lower minor allele frequency is greatly reduced, requiring considerable sample sizes. Here we aim to assess the impact of rare variants on genetic variation of refractive errors in a very large general population cohort. Methods Genetic association analyses of non-cyclopaedic autorefraction calculated as mean spherical equivalent (SPHE) used whole-exome sequence genotypic information from 50,893 unrelated participants in the UK Biobank of European ancestry. Gene-based analyses tested for association with SPHE using an optimised SNP-set kernel association test (SKAT-O) restricted to rare variants (minor allele frequency < 1%) within protein-coding regions of the genome. All models were adjusted for age, sex and common lead variants within the same locus reported by previous genome-wide association studies. Potentially causal markers driving association at significant loci were elucidated using sensitivity analyses by sequentially dropping the most associated variants from gene-based analyses. Results We found strong statistical evidence for association of SPHE with the SIX6 (p-value = 2.15 x 10−10, or Bonferroni-Corrected p = 4.41x10-06) and the CRX gene (p-value = 6.65 x 10−08, or Bonferroni-Corrected p = 0.001). The SIX6 gene codes for a transcription factor believed to be critical to the eye, retina and optic disc development and morphology, while CRX regulates photoreceptor specification and expression of over 700 genes in the retina. These novel associations suggest an important role of genes involved in eye morphogenesis in refractive error. Conclusion The results of our study support previous research highlighting the importance of rare variants to the genetic risk of refractive error. We explain some of the origins of the genetic signals seen in GWAS but also report for the first time a completely novel association with the CRX gene.

Published
2022
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16. Education influences the role of genetics in myopia

Author

Consortium for Refractive Error and Myopia (CREAM), Verhoeven, Virginie J. M., Buitendijk, Gabriëlle H. S., Rivadeneira, Fernando, Uitterlinden, André G., Vingerling, Johannes R., Hofman, Albert, and Klaver, Caroline C. W.

Published
2013

17. 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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18. Whole exome sequencing of known eye genes reveals genetic causes for high myopia

Author

Haarman, Annechien E G, primary, Thiadens, Alberta A H J, additional, van Tienhoven, Marianne, additional, Loudon, Sjoukje E, additional, de Klein, J E M M Annelies, additional, Brosens, Erwin, additional, Polling, Jan Roelof, additional, van der Schoot, Vyne, additional, Bouman, Arjan, additional, Kievit, Anneke J A, additional, Hoefsloot, Lies H, additional, Klaver, Caroline C W, additional, and Verhoeven, Virginie J M, additional

Published
2022
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19. Whole exome sequence analysis in 51 624 participants identifies novel genes and variants associated with refractive error and myopia

Author

Guggenheim, Jeremy A, Clark, Rosie, Cui, Jiangtian, Terry, Louise, Patasova, Karina, Haarman, Annechien E.G, Musolf, Anthony M, Verhoeven, Virginie J M, Klaver, Caroline C W, Bailey-Wilson, Joan E, Hysi, Pirro G, Williams, Cathy E M, Ophthalmology, Clinical Genetics, and Epidemiology

Subjects
Adult, Pore Forming Cytotoxic Proteins, General Medicine, Refractive Errors, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Neoplasm Proteins, Exome Sequencing, Genetics, Myopia, Humans, Exome, Molecular Biology, Genetics (clinical), Genome-Wide Association Study
Abstract

Contains fulltext : 251578.pdf (Publisher’s version ) (Open Access) Refractive errors are associated with a range of pathological conditions, such as myopic maculopathy and glaucoma, and are highly heritable. Studies of missense and putative loss of function (pLOF) variants identified via whole exome sequencing (WES) offer the prospect of directly implicating potentially causative disease genes. We performed a genome-wide association study for refractive error in 51 624 unrelated adults, of European ancestry, aged 40-69 years from the UK and genotyped using WES. After testing 29 179 pLOF and 495 263 missense variants, 1 pLOF and 18 missense variants in 14 distinct genomic regions were taken forward for fine-mapping analysis. This yielded 19 putative causal variants of which 18 had a posterior inclusion probability >0.5. Of the 19 putative causal variants, 12 were novel discoveries. Specific variants were associated with a more myopic refractive error, while others were associated with a more hyperopic refractive error. Association with age of onset of spectacle wear (AOSW) was examined in an independent validation sample (38 100 early AOSW cases and 74 243 controls). Of 11 novel variants that could be tested, 8 (73%) showed evidence of association with AOSW status. This work identified COL4A4 and ATM as novel candidate genes associated with refractive error. In addition, novel putative causal variants were identified in the genes RASGEF1, ARMS2, BMP4, SIX6, GSDMA, GNGT2, ZNF652 and CRX. Despite these successes, the study also highlighted the limitations of community-based WES studies compared with high myopia case-control WES studies.

Published
2022
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20. 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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21. Prevalence of Myopic Macular Features in Dutch Individuals of European Ancestry With High Myopia

Author

Haarman, Annechien E. G., primary, Tedja, Milly S., additional, Brussee, Corina, additional, Enthoven, Clair A., additional, van Rijn, Gwyneth A., additional, Vingerling, Johannes R., additional, Keunen, Jan E. E., additional, Boon, Camiel J. F., additional, Geerards, Annette J. M., additional, Luyten, Gré P. M., additional, Verhoeven, Virginie J. M., additional, and Klaver, Caroline C. W., additional

Published
2022
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22. WNT10A exonic variant increases the risk of keratoconus by decreasing corneal thickness

Author

Cuellar-Partida, Gabriel, Springelkamp, Henriët, Lucas, Sionne E. M., Yazar, Seyhan, Hewitt, Alex W., Iglesias, Adriana I., Montgomery, Grant W., Martin, Nicholas G., Pennell, Craig E., van Leeuwen, Elisabeth M., Verhoeven, Virginie J. M., Hofman, Albert, Uitterlinden, André G., Ramdas, Wishal D., Wolfs, Roger. C. W., Vingerling, Johannes R., Brown, Matthew A., Mills, Richard A., Craig, Jamie E., Klaver, Caroline C. W., van Duijn, Cornelia M., Burdon, Kathryn P., MacGregor, Stuart, and Mackey, David A.

Published
2015
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24. Phenotypic Consequences of the GJD2 Risk Genotype in Myopia Development

Author

Haarman, Annechien E. G., primary, Enthoven, Clair A., additional, Tedja, Milly S., additional, Polling, Jan R., additional, Tideman, J. Willem L., additional, Keunen, Jan E. E., additional, Boon, Camiel J. F., additional, Felix, Janine F., additional, Raat, H., additional, Geerards, Annette J. M., additional, Luyten, Gregorius P. M., additional, van Rijn, Gwyneth A., additional, Verhoeven, Virginie J. M., additional, and Klaver, Caroline C. W., additional

Published
2021
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25. IMI 2021 Yearly Digest

Author

Jong, Monica, Jonas, Jost B., Wolffsohn, James S., Berntsen, David A., Cho, Pauline, Clarkson-Townsend, Danielle, Flitcroft, Daniel I., Gifford, Kate L., Haarman, Annechien E. G., Pardue, Machelle T., Richdale, Kathryn, Sankaridurg, Padmaja, Tedja, Milly S., Wildsoet, Christine F., Bailey-Wilson, Joan E., Guggenheim, Jeremy A., Hammond, Christopher J., Kaprio, Jaakko, MacGregor, Stuart, Mackey, David A., Musolf, Anthony M., Klaver, Caroline C. W., Verhoeven, Virginie J. M., Vitart, Veronique, Smith, Earl L., Jong, Monica, Jonas, Jost B., Wolffsohn, James S., Berntsen, David A., Cho, Pauline, Clarkson-Townsend, Danielle, Flitcroft, Daniel I., Gifford, Kate L., Haarman, Annechien E. G., Pardue, Machelle T., Richdale, Kathryn, Sankaridurg, Padmaja, Tedja, Milly S., Wildsoet, Christine F., Bailey-Wilson, Joan E., Guggenheim, Jeremy A., Hammond, Christopher J., Kaprio, Jaakko, MacGregor, Stuart, Mackey, David A., Musolf, Anthony M., Klaver, Caroline C. W., Verhoeven, Virginie J. M., Vitart, Veronique, and Smith, Earl L.

Abstract

Purpose: The International Myopia Institute (IMI) Yearly Digest highlights new research considered to be of importance since the publication of the first series of IMI white papers. Methods: A literature search was conducted for articles on myopia between 2019 and mid-2020 to inform definitions and classifications, experimental models, genetics, interventions, clinical trials, and clinical management. Conference abstracts from key meetings in the same period were also considered. Results: One thousand articles on myopia have been published between 2019 and mid-2020. Key advances include the use of the definition of premyopia in studies currently under way to test interventions in myopia, new definitions in the field of pathologic myopia, the role of new pharmacologic treatments in experimental models such as intraocular pressure–lowering latanoprost, a large meta-analysis of refractive error identifying 336 new genetic loci, new clinical interventions such as the defocus incorporated multisegment spectacles and combination therapy with low-dose atropine and orthokeratology (OK), normative standards in refractive error, the ethical dilemma of a placebo control group when myopia control treatments are established, reporting the physical metric of myopia reduction versus a percentage reduction, comparison of the risk of pediatric OK wear with risk of vision impairment in myopia, the justification of preventing myopic and axial length increase versus quality of life, and future vision loss. Conclusions: Large amounts of research in myopia have been published since the IMI 2019 white papers were released. The yearly digest serves to highlight the latest research and advances in myopia.

Published
2021

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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28. IMI 2021 Yearly Digest

Author

Jong, Monica, primary, Jonas, Jost B., additional, Wolffsohn, James S., additional, Berntsen, David A., additional, Cho, Pauline, additional, Clarkson-Townsend, Danielle, additional, Flitcroft, Daniel I., additional, Gifford, Kate L., additional, Haarman, Annechien E. G., additional, Pardue, Machelle T., additional, Richdale, Kathryn, additional, Sankaridurg, Padmaja, additional, Tedja, Milly S., additional, Wildsoet, Christine F., additional, Bailey-Wilson, Joan E., additional, Guggenheim, Jeremy A., additional, Hammond, Christopher J., additional, Kaprio, Jaakko, additional, MacGregor, Stuart, additional, Mackey, David A., additional, Musolf, Anthony M., additional, Klaver, Caroline C. W., additional, Verhoeven, Virginie J. M., additional, Vitart, Veronique, additional, and Smith, Earl L., additional

Published
2021
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29. 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

30. 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, Consortium for Refractive Error and Myopia (CREAM), UK Biobank Eye and Vision Consortium, Barman, Sarah A., 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, sense organs, eye diseases, biological
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
2020

33. A genome-wide association study of corneal astigmatism:The CREAM Consortium

Author

Shah, Rupal L, Li, Qing, Zhao, Wanting, Tedja, Milly S, Tideman, J Willem L, Khawaja, Anthony P, Fan, Qiao, Yazar, Seyhan, Williams, Katie M, Verhoeven, Virginie J M, Xie, Jing, Wang, Ya Xing, Hess, Moritz, Nickels, Stefan, Lackner, Karl J, Pärssinen, Olavi, Wedenoja, Juho, Biino, Ginevra, Concas, Maria Pina, Uitterlinden, André, Rivadeneira, Fernando, Jaddoe, Vincent W V, Hysi, Pirro G, Sim, Xueling, Tan, Nicholas, Tham, Yih-Chung, Sensaki, Sonoko, Hofman, Albert, Vingerling, Johannes R, Jonas, Jost B, Hammond, Christopher J, Höhn, René, Baird, Paul N, Wong, Tien-Yin, Cheng, Chinfsg-Yu, Teo, Yik Ying, Mackey, David A, Williams, Cathy, Saw, Seang-Mei, Klaver, Caroline C W, Guggenheim, Jeremy A, and Bailey-Wilson, Joan E

Abstract

Purpose: To identify genes and genetic markers associated with corneal astigmatism.Methods: A meta-analysis of genome-wide association studies (GWASs) of corneal astigmatism undertaken for 14 European ancestry (n=22,250) and 8 Asian ancestry (n=9,120) cohorts was performed by the Consortium for Refractive Error and Myopia. Cases were defined as having >0.75 diopters of corneal astigmatism. Subsequent gene-based and gene-set analyses of the meta-analyzed results of European ancestry cohorts were performed using VEGAS2 and MAGMA software. Additionally, estimates of single nucleotide polymorphism (SNP)-based heritability for corneal and refractive astigmatism and the spherical equivalent were calculated for Europeans using LD score regression.Results: The meta-analysis of all cohorts identified a genome-wide significant locus near the platelet-derived growth factor receptor alpha (PDGFRA) gene: top SNP: rs7673984, odds ratio=1.12 (95% CI:1.08-1.16), p=5.55×10-9. No other genome-wide significant loci were identified in the combined analysis or European/Asian ancestry-specific analyses. Gene-based analysis identified three novel candidate genes for corneal astigmatism in Europeans-claudin-7 (CLDN7), acid phosphatase 2, lysosomal (ACP2), and TNF alpha-induced protein 8 like 3 (TNFAIP8L3).Conclusions: In addition to replicating a previously identified genome-wide significant locus for corneal astigmatism near thePDGFRAgene, gene-based analysis identified three novel candidate genes,CLDN7,ACP2, andTNFAIP8L3, that warrant further investigation to understand their role in the pathogenesis of corneal astigmatism. The much lower number of genetic variants and genes demonstrating an association with corneal astigmatism compared to published spherical equivalent GWAS analyses suggest a greater influence of rare genetic variants, non-additive genetic effects, or environmental factors in the development of astigmatism.

Published
2018

34. Long‐term longitudinal changes in axial length in the Caucasian myopic and hyperopic population with a phakic intraocular lens.

Author

Gaurisankar, Zoraida S., Rijn, Gwyneth A., Haasnoot, Geert W., Verhoeven, Virginie J. M., Klaver, Caroline C. W., Luyten, Gregorius P. M., and Beenakker, Jan‐Willem M.

Subjects
INTRAOCULAR lenses, ADULTS, CAUCASIAN race, HYPEROPIA, MEDICAL records
Abstract

Purpose: To determine the long‐term longitudinal axial length changes in myopic and hyperopic adults with an iris‐fixated phakic intraocular lens (pIOL). Methods: The medical records of patients aged ≥18 years with myopia or hyperopia who were treated with pIOL implantation between 1996 and 2011 for refractive correction with a minimum follow‐up of 5 years after pIOL implantation were analyzed. The main outcome measure was change in ocular axial length over time. Results: 149 eyes of 149 myopic patients and 27 hyperopic eyes of 27 patients were included in this study. Mean patient age was 37.1 ± 10.4 years (35% male) in the myopic group and 39.4 ± 9.4 years (4% male) in the hyperopic group. The eyes of the myopic patients showed a significant mean increase in axial length of 0.45 ± 0.61 mm after a mean follow‐up time of 144 ± 38 months (p < 0.001). In 26 eyes (17%), the axial length had increased by ≥1 mm. The mean annual axial length increase was 0.04 ± 0.06 mm. Axial elongation was associated with a higher degree of myopia (p < 0.001) and younger age (p = 0.02). The eyes of the hyperopic patients showed no change in axial length over time. Conclusions: Myopic eyes corrected with an iris‐fixated pIOL show continuous increase in axial length at an adult age. Although this study is limited to subjects with a pIOL, this is the first time myopization in Caucasian adults has been reported in a large long‐term longitudinal study. [ABSTRACT FROM AUTHOR]

Published
2021
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35. 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

36. Development of Refractive Errors—What Can We Learn From Inherited Retinal Dystrophies?

Author

Hendriks, Michelle, Verhoeven, Virginie J M, Buitendijk, Gabriëlle H.S., Polling, Jan Roelof, Meester-Smoor, Magda A., Hofman, Albert, van Huet, Ramon A C, Klevering, B Jeroen, Bax, Nathalie M., Lambertus, Stanley, Klaver, Caroline C W, Hoyng, Carel B., Oomen, Clasien J, van Zelst-Stams, Wendy A. G., Cremers, Frans Pm, Plomp, Astrid S, van Schooneveld, Mary J., van Genderen, Mies M., Schuil, José, Boonstra, F Nienke, Schlingemann, Reinier O, Bergen, Arthur A., Pierrache, Laurence, Meester-Smoor, Magda, van den Born, L Ingeborgh, Boon, Camiel J.F., Pott, Jan W.R., van Leeuwen, Redmer, Kroes, Hester Y., de Jong-Hesse, Yvonne, Kamermans, Maarten, Ingeborgh van den Born, L., and RD5000 Consortium

Subjects
Ophthalmology, Journal Article
Abstract

Purpose It is unknown which retinal cells are involved in the retina-to-sclera signaling cascade causing myopia. As inherited retinal dystrophies (IRD) are characterized by dysfunction of a single retinal cell type and have a high risk of refractive errors, a study investigating the affected cell type, causal gene, and refractive error in IRDs may provide insight herein. Design Case-control study. Methods STUDY POPULATION: Total of 302 patients with IRD from 2 ophthalmogenetic centers in the Netherlands. REFERENCE POPULATION: Population-based Rotterdam Study-III and Erasmus Rucphen Family Study (N = 5550). Distributions and mean spherical equivalent (SE) were calculated for main affected cell type and causal gene; and risks of myopia and hyperopia were evaluated using logistic regression. Results Bipolar cell-related dystrophies were associated with the highest risk of SE high myopia 239.7; odds ratio (OR) mild hyperopia 263.2, both P

Published
2017

37. NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield

Author

Overwater, Eline, Floor, K., van Beek, D., Boer, K., van Dijk, T.B., Hilhorst-Hofstee, Y., Hoogeboom, A. Jeannette M, van Kaam, K. J., van de Kamp, Jiddeke M, Kempers, M., Krapels, Ingrid P C, Kroes, H. Y., Loeys, B.L., Salemink, S., Stumpel, Connie T R M, Verhoeven, Virginie J M, Wijnands-van den Berg, E., Cobben, J.M., van Tintelen, J. Peter, Weiss, M., Houweling, A. C., Maugeri, A., Overwater, Eline, Floor, K., van Beek, D., Boer, K., van Dijk, T.B., Hilhorst-Hofstee, Y., Hoogeboom, A. Jeannette M, van Kaam, K. J., van de Kamp, Jiddeke M, Kempers, M., Krapels, Ingrid P C, Kroes, H. Y., Loeys, B.L., Salemink, S., Stumpel, Connie T R M, Verhoeven, Virginie J M, Wijnands-van den Berg, E., Cobben, J.M., van Tintelen, J. Peter, Weiss, M., Houweling, A. C., and Maugeri, A.

Published
2017

38. NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield

Author

CMM Groep De Ridder, UMC Utrecht, Genetica Klinische Genetica, Child Health, Overwater, Eline, Floor, K., van Beek, D., Boer, K., van Dijk, T.B., Hilhorst-Hofstee, Y., Hoogeboom, A. Jeannette M, van Kaam, K. J., van de Kamp, Jiddeke M, Kempers, M., Krapels, Ingrid P C, Kroes, H. Y., Loeys, B.L., Salemink, S., Stumpel, Connie T R M, Verhoeven, Virginie J M, Wijnands-van den Berg, E., Cobben, J.M., van Tintelen, J. Peter, Weiss, M., Houweling, A. C., Maugeri, A., CMM Groep De Ridder, UMC Utrecht, Genetica Klinische Genetica, Child Health, Overwater, Eline, Floor, K., van Beek, D., Boer, K., van Dijk, T.B., Hilhorst-Hofstee, Y., Hoogeboom, A. Jeannette M, van Kaam, K. J., van de Kamp, Jiddeke M, Kempers, M., Krapels, Ingrid P C, Kroes, H. Y., Loeys, B.L., Salemink, S., Stumpel, Connie T R M, Verhoeven, Virginie J M, Wijnands-van den Berg, E., Cobben, J.M., van Tintelen, J. Peter, Weiss, M., Houweling, A. C., and Maugeri, A.

Published
2017

39. Development of Refractive Errors—What Can We Learn From Inherited Retinal Dystrophies?

Author

MS Oogheelkunde, Infection & Immunity, Genetica Klinische Genetica, Child Health, Hendriks, Michelle, Verhoeven, Virginie J M, Buitendijk, Gabriëlle H.S., Polling, Jan Roelof, Meester-Smoor, Magda A., Hofman, Albert, van Huet, Ramon A C, Klevering, B Jeroen, Bax, Nathalie M., Lambertus, Stanley, Klaver, Caroline C W, Hoyng, Carel B., Oomen, Clasien J, van Zelst-Stams, Wendy A. G., Cremers, Frans Pm, Plomp, Astrid S, van Schooneveld, Mary J., van Genderen, Mies M., Schuil, José, Boonstra, F Nienke, Schlingemann, Reinier O, Bergen, Arthur A., Pierrache, Laurence, Meester-Smoor, Magda, van den Born, L Ingeborgh, Boon, Camiel J.F., Pott, Jan W.R., van Leeuwen, Redmer, Kroes, Hester Y., de Jong-Hesse, Yvonne, Kamermans, Maarten, Ingeborgh van den Born, L., RD5000 Consortium, MS Oogheelkunde, Infection & Immunity, Genetica Klinische Genetica, Child Health, Hendriks, Michelle, Verhoeven, Virginie J M, Buitendijk, Gabriëlle H.S., Polling, Jan Roelof, Meester-Smoor, Magda A., Hofman, Albert, van Huet, Ramon A C, Klevering, B Jeroen, Bax, Nathalie M., Lambertus, Stanley, Klaver, Caroline C W, Hoyng, Carel B., Oomen, Clasien J, van Zelst-Stams, Wendy A. G., Cremers, Frans Pm, Plomp, Astrid S, van Schooneveld, Mary J., van Genderen, Mies M., Schuil, José, Boonstra, F Nienke, Schlingemann, Reinier O, Bergen, Arthur A., Pierrache, Laurence, Meester-Smoor, Magda, van den Born, L Ingeborgh, Boon, Camiel J.F., Pott, Jan W.R., van Leeuwen, Redmer, Kroes, Hester Y., de Jong-Hesse, Yvonne, Kamermans, Maarten, Ingeborgh van den Born, L., and RD5000 Consortium

Published
2017

40. 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
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41. 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

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

Author

90812793, Fan, Qiao, Verhoeven, Virginie J. M., Wojciechowski, Robert, Barathi, Veluchamy A., Hysi, Pirro G., Guggenheim, Jeremy A., Höhn, René, Vitart, Veronique, Khawaja, Anthony P., Yamashiro, Kenji, Hosseini, S Mohsen, Lehtimäki, Terho, Lu, Yi, Haller, Toomas, Xie, Jing, Delcourt, Cécile, Pirastu, Mario, Wedenoja, Juho, Gharahkhani, Puya, Venturini, Cristina, Miyake, Masahiro, Hewitt, Alex W., Guo, Xiaobo, Mazur, Johanna, Huffman, Jenifer E., Williams, Katie M., Polasek, Ozren, Campbell, Harry, Rudan, Igor, Vatavuk, Zoran, Wilson, James F., Joshi, Peter K., McMahon, George, St Pourcain, Beate, Evans, David M., Simpson, Claire L., Schwantes-An, Tae-Hwi, Igo, Robert P., Mirshahi, Alireza, Cougnard-Gregoire, Audrey, Bellenguez, Céline, Blettner, Maria, Raitakari, Olli, Kähönen, Mika, Seppälä, Ilkka, Zeller, Tanja, Meitinger, Thomas, Ried, Janina S., Gieger, Christian, Portas, Laura, van Leeuwen, Elisabeth M., Amin, Najaf, Uitterlinden, André G., Rivadeneira, Fernando, Hofman, Albert, Vingerling, Johannes R., Wang, Ya Xing, Wang, Xu, Tai-Hui Boh, Eileen, Ikram, M. Kamran, Sabanayagam, Charumathi, Gupta, Preeti, Tan, Vincent, Zhou, Lei, Ho, Candice E. H., Lim, Wan’e, Beuerman, Roger W., Siantar, Rosalynn, Tai, E-Shyong, Vithana, Eranga, Mihailov, Evelin, Khor, Chiea-Chuen, Hayward, Caroline, Luben, Robert N., Foster, Paul J., Klein, Barbara E. K., Klein, Ronald, Wong, Hoi-Suen, Mitchell, Paul, Metspalu, Andres, Aung, Tin, Young, Terri L., He, Mingguang, Pärssinen, Olavi, van Duijn, Cornelia M., Jin Wang, Jie, Williams, Cathy, Jonas, Jost B., Teo, Yik-Ying, Mackey, David A., Oexle, Konrad, Yoshimura, Nagahisa, Paterson, Andrew D., Pfeiffer, Norbert, Wong, Tien-Yin, Baird, Paul N., Stambolian, Dwight, Wilson, Joan E. Bailey, Cheng, Ching-Yu, Hammond, Christopher J., Klaver, Caroline C. W., Saw, Seang-Mei, 90812793, Fan, Qiao, Verhoeven, Virginie J. M., Wojciechowski, Robert, Barathi, Veluchamy A., Hysi, Pirro G., Guggenheim, Jeremy A., Höhn, René, Vitart, Veronique, Khawaja, Anthony P., Yamashiro, Kenji, Hosseini, S Mohsen, Lehtimäki, Terho, Lu, Yi, Haller, Toomas, Xie, Jing, Delcourt, Cécile, Pirastu, Mario, Wedenoja, Juho, Gharahkhani, Puya, Venturini, Cristina, Miyake, Masahiro, Hewitt, Alex W., Guo, Xiaobo, Mazur, Johanna, Huffman, Jenifer E., Williams, Katie M., Polasek, Ozren, Campbell, Harry, Rudan, Igor, Vatavuk, Zoran, Wilson, James F., Joshi, Peter K., McMahon, George, St Pourcain, Beate, Evans, David M., Simpson, Claire L., Schwantes-An, Tae-Hwi, Igo, Robert P., Mirshahi, Alireza, Cougnard-Gregoire, Audrey, Bellenguez, Céline, Blettner, Maria, Raitakari, Olli, Kähönen, Mika, Seppälä, Ilkka, Zeller, Tanja, Meitinger, Thomas, Ried, Janina S., Gieger, Christian, Portas, Laura, van Leeuwen, Elisabeth M., Amin, Najaf, Uitterlinden, André G., Rivadeneira, Fernando, Hofman, Albert, Vingerling, Johannes R., Wang, Ya Xing, Wang, Xu, Tai-Hui Boh, Eileen, Ikram, M. Kamran, Sabanayagam, Charumathi, Gupta, Preeti, Tan, Vincent, Zhou, Lei, Ho, Candice E. H., Lim, Wan’e, Beuerman, Roger W., Siantar, Rosalynn, Tai, E-Shyong, Vithana, Eranga, Mihailov, Evelin, Khor, Chiea-Chuen, Hayward, Caroline, Luben, Robert N., Foster, Paul J., Klein, Barbara E. K., Klein, Ronald, Wong, Hoi-Suen, Mitchell, Paul, Metspalu, Andres, Aung, Tin, Young, Terri L., He, Mingguang, Pärssinen, Olavi, van Duijn, Cornelia M., Jin Wang, Jie, Williams, Cathy, Jonas, Jost B., Teo, Yik-Ying, Mackey, David A., Oexle, Konrad, Yoshimura, Nagahisa, Paterson, Andrew D., Pfeiffer, Norbert, Wong, Tien-Yin, Baird, Paul N., Stambolian, Dwight, Wilson, Joan E. Bailey, Cheng, Ching-Yu, Hammond, Christopher J., Klaver, Caroline C. W., and Saw, Seang-Mei

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<8.5 × 10−5), whereas the interactions are less evident in Europeans. The discovery of these loci represents an important advance in understanding how gene and environment interactions contribute to the heterogeneity of myopia.

Published
2016

44. Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features

Author

Steinfeld, Hallie, Cho, Megan T., Retterer, Kyle, Person, Rick, Schaefer, G. Bradley, Danylchuk, Noelle, Malik, Saleem, Wechsler, Stephanie Burns, Wheeler, Patricia G., van Gassen, Koen L I, Terhal, P. A., Verhoeven, Virginie J M, van Slegtenhorst, Marjon A., Monaghan, Kristin G., Henderson, Lindsay B., Chung, Wendy K., Steinfeld, Hallie, Cho, Megan T., Retterer, Kyle, Person, Rick, Schaefer, G. Bradley, Danylchuk, Noelle, Malik, Saleem, Wechsler, Stephanie Burns, Wheeler, Patricia G., van Gassen, Koen L I, Terhal, P. A., Verhoeven, Virginie J M, van Slegtenhorst, Marjon A., Monaghan, Kristin G., Henderson, Lindsay B., and Chung, Wendy K.

Published
2016

45. Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features

Author

Genetica Sectie Genoomdiagnostiek, Child Health, Genetica Klinische Genetica, Steinfeld, Hallie, Cho, Megan T., Retterer, Kyle, Person, Rick, Schaefer, G. Bradley, Danylchuk, Noelle, Malik, Saleem, Wechsler, Stephanie Burns, Wheeler, Patricia G., van Gassen, Koen L I, Terhal, P. A., Verhoeven, Virginie J M, van Slegtenhorst, Marjon A., Monaghan, Kristin G., Henderson, Lindsay B., Chung, Wendy K., Genetica Sectie Genoomdiagnostiek, Child Health, Genetica Klinische Genetica, Steinfeld, Hallie, Cho, Megan T., Retterer, Kyle, Person, Rick, Schaefer, G. Bradley, Danylchuk, Noelle, Malik, Saleem, Wechsler, Stephanie Burns, Wheeler, Patricia G., van Gassen, Koen L I, Terhal, P. A., Verhoeven, Virginie J M, van Slegtenhorst, Marjon A., Monaghan, Kristin G., Henderson, Lindsay B., and Chung, Wendy K.

Published
2016

46. Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process

Author

Springelkamp, Henriët., Höhn, René, Mishra, Aniket, Hysi, Pirro G., Khor, Chiea-Chuen, Loomis, Stephanie J., Bailey, Jessica N. Cooke, Gibson, Jane, Thorleifsson, Gudmar, Janssen, Sarah F., Luo, Xiaoyan, Ramdas, Wishal D., Vithana, Eranga, Nongpiur, Monisha E., Montgomery, Grant W., Xu, Liang, Mountain, Jenny E., Gharahkhani, Puya, Lu, Yi, Amin, Najaf, Karssen, Lennart C., Sim, Kar-Seng, van Leeuwen, Elisabeth M., Iglesias, Adriana I., Verhoeven, Virginie J. M., Hauser, Michael A., Loon, Seng-Chee, Despriet, Dominiek D. G., Nag, Abhishek, Venturini, Cristina, Sanfilippo, Paul G., Schillert, Arne, Kang, Jae H., Landers, John, Jonasson, Fridbert, Cree, Angela J., van Koolwijk, Leonieke M. E., Rivadeneira, Fernando, Souzeau, Emmanuelle, Jonsson, Vesteinn, Menon, Geeta, Mitchell, Paul, Wang, Jie Jin, Rochtchina, Elena, Attia, John, Scott, Rodney, Holliday, Elizabeth G., Wong, Tien-Yin, Baird, Paul N., Xie, Jing, Inouye, Michael, Viswanathan, Ananth, Sim, Xueling, Weinreb, Robert N., de Jong, Paulus T. V. M., Oostra, Ben A., Uitterlinden, André G., Hofman, Albert, Ennis, Sarah, Thorsteinsdottir, Unnur, Burdon, Kathryn P., Allingham, R. Rand, Brilliant, Murray H., Budenz, Donald L., Cooke Bailey, Jessica N., Christen, William G., Fingert, John, Friedman, David S., Gaasterland, Douglas, Gaasterland, Terry, Haines, Jonathan L., Kang, Jae Hee, Kraft, Peter, Lee, Richard K., Lichter, Paul R., Liu, Yutao, Moroi, Sayoko E., Pasquale, Louis R., Pericak-Vance, Margaret A., Realini, Anthony, Richards, Julia E., Schuman, Joel S., Scott, William K., Singh, Kuldev, Sit, Arthur J., Vollrath, Douglas, Wiggs, Janey L., Wollstein, Gadi, Zack, Donald J., Zhang, Kang, Donnelly (Chair), Peter, Barroso (Deputy Chair), Ines, Blackwell, Jenefer M., Bramon, Elvira, Brown, Matthew A., Casas, Juan P., Corvin, Aiden, Deloukas, Panos, Duncanson, Audrey, Jankowski, Janusz, Markus, Hugh S., Mathew, Christopher G., Palmer, Colin N. A., Plomin, Robert, Rautanen, Anna, Sawcer, Stephen J., Trembath, Richard C., Viswanathan, Ananth C., Wood, Nicholas W., Spencer, Chris C. A., Band, Gavin, Bellenguez, Céline, Freeman, Colin, Hellenthal, Garrett, Giannoulatou, Eleni, Pirinen, Matti, Pearson, Richard, Strange, Amy, Su, Zhan, Vukcevic, Damjan, Donnelly, Peter, Langford, Cordelia, Hunt, Sarah E., Edkins, Sarah, Gwilliam, Rhian, Blackburn, Hannah, Bumpstead, Suzannah J., Dronov, Serge, Gillman, Matthew, Gray, Emma, Hammond, Naomi, Jayakumar, Alagurevathi, McCann, Owen T., Liddle, Jennifer, Potter, Simon C., Ravindrarajah, Radhi, Ricketts, Michelle, Waller, Matthew, Weston, Paul, Widaa, Sara, Whittaker, Pamela, Barroso, Ines, Mathew (Chair), Christopher G., Spector, Timothy D., Mirshahi, Alireza, Saw, Seang-Mei, Vingerling, Johannes R., Teo, Yik-Ying, Wolfs, Roger C. W., Lemij, Hans G., Tai, E-Shyong, Jansonius, Nomdo M., Jonas, Jost B., Cheng, Ching-Yu, Aung, Tin, Klaver, Caroline C. W., Craig, Jamie E., Macgregor, Stuart, Mackey, David A., Lotery, Andrew J., Stefansson, Kari, Bergen, Arthur A. B., Young, Terri L., Pfeiffer, Norbert, Hewitt, Alex W., van Duijn, Cornelia M., Hammond, Christopher J., Netherlands Institute for Neuroscience (NIN), Perceptual and Cognitive Neuroscience (PCN), Other departments, Ophthalmology, ANS - Amsterdam Neuroscience, Human Genetics, Erasmus MC other, Epidemiology, Internal Medicine, Clinical Genetics, and Obstetrics & Gynecology

Subjects
DISRUPTION, TO-DISC RATIO, genetic structures, Optic disk, General Physics and Astronomy, Glaucoma, Genome-wide association study, Neurodegenerative, Eye, INTRAOCULAR-PRESSURE, 0302 clinical medicine, Gene Frequency, 2.1 Biological and endogenous factors, Aetiology, POPULATION, 0303 health sciences, education.field_of_study, Multidisciplinary, HERITABILITY, ABNORMALITIES, NEIGHBORHOOD Consortium, Single Nucleotide, 3. Good health, Phenotype, medicine.anatomical_structure, Optic nerve, OPEN-ANGLE GLAUCOMA, Optic disc, Asian Continental Ancestry Group, medicine.medical_specialty, Genotype, SUSCEPTIBILITY LOCI, European Continental Ancestry Group, Optic Disk, Population, Polymorphism, Single Nucleotide, Article, White People, General Biochemistry, Genetics and Molecular Biology, PARAMETERS, 03 medical and health sciences, Asian People, Blue Mountains Eye Study—GWAS group, Ophthalmology, Genetics, medicine, Humans, Polymorphism, education, CENTRAL CORNEAL THICKNESS, Eye Disease and Disorders of Vision, 030304 developmental biology, Genetic association, business.industry, Gene Expression Profiling, Wellcome Trust Case Control Consortium 2, Human Genome, Neurosciences, Case-control study, Optic Nerve, General Chemistry, A300, medicine.disease, eye diseases, Case-Control Studies, 030221 ophthalmology & optometry, sense organs, business, Genome-Wide Association Study
Abstract

Glaucoma is characterized by irreversible optic nerve degeneration and is the most frequent cause of irreversible blindness worldwide. Here, the International Glaucoma Genetics Consortium conducts a meta-analysis of genome-wide association studies of vertical cup-disc ratio (VCDR), an important disease-related optic nerve parameter. In 21,094 individuals of European ancestry and 6,784 individuals of Asian ancestry, we identify 10 new loci associated with variation in VCDR. In a separate risk-score analysis of five case-control studies, Caucasians in the highest quintile have a 2.5-fold increased risk of primary open-angle glaucoma as compared with those in the lowest quintile. This study has more than doubled the known loci associated with optic disc cupping and will allow greater understanding of mechanisms involved in this common blinding condition., Glaucoma is the most common cause of irreversible blindness worldwide. Here, the authors carry out a large meta-analysis of genetic data from individuals of European and Asian ancestry and identify 10 new loci associated with vertical cup-disc ratio, a key factor in the clinical assessment of patients with glaucoma.

Published
2014
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47. Association of Axial Length With Risk of Uncorrectable Visual Impairment for Europeans With Myopia

Author

Tideman, J. Willem L., primary, Snabel, Margaretha C. C., additional, Tedja, Milly S., additional, van Rijn, Gwyneth A., additional, Wong, King T., additional, Kuijpers, Robert W. A. M., additional, Vingerling, Johannes R., additional, Hofman, Albert, additional, Buitendijk, Gabriëlle H. S., additional, Keunen, Jan E. E., additional, Boon, Camiel J. F., additional, Geerards, Annette J. M., additional, Luyten, Gregorius P. M., additional, Verhoeven, Virginie J. M., additional, and Klaver, Caroline C. W., additional

Published
2016
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48. 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

49. A genome-wide association study of corneal astigmatism: The CREAM Consortium.

Author

Shah, Rupal L., Qing Li, Wanting Zhao, Tedja, Milly S., Tideman, J. Willem L., Khawaja, Anthony P., Qiao Fan, Yazar, Seyhan, Williams, Katie M., Verhoeven, Virginie J. M., Jing Xie, Ya Xing Wang, Hess, Moritz, Nickels, Stefan, Lackner, Karl J., Pärssinen, Olavi, Wedenoja, Juho, Biino, Ginevra, Concas, Maria Pina, and Uitterlinden, André

Published
2018

50. Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process

Author

Springelkamp, Henriët, Höhn, René, Mishra, Aniket, Hysi, Pirro G, Khor, Chiea-Chuen, Loomis, Stephanie J, Bailey, Jessica N Cooke, Gibson, Jane, Thorleifsson, Gudmar, Janssen, Sarah F, Luo, Xiaoyan, Ramdas, Wishal D, Vithana, Eranga, Nongpiur, Monisha E, Montgomery, Grant W, Xu, Liang, Mountain, Jenny E, Gharahkhani, Puya, Lu, Yi, Amin, Najaf, Karssen, Lennart C, Sim, Kar-Seng, van Leeuwen, Elisabeth M, Iglesias, Adriana I, Verhoeven, Virginie J M, Hauser, Michael A, Loon, Seng-Chee, Despriet, Dominiek D G, Nag, Abhishek, Venturini, Cristina, Sanfilippo, Paul G, Schillert, Arne, Kang, Jae H, Landers, John, Jonasson, Fridbert, Cree, Angela J, van Koolwijk, Leonieke M E, Rivadeneira, Fernando, Souzeau, Emmanuelle, Jonsson, Vesteinn, Menon, Geeta, Weinreb, Robert N, de Jong, Paulus T V M, Oostra, Ben A, Uitterlinden, André G, Hofman, Albert, Ennis, Sarah, Thorsteinsdottir, Unnur, Burdon, Kathryn P, Bergen, Arthur A B, Blue Mountains Eye Study—GWAS group, Springelkamp, Henriët, Höhn, René, Mishra, Aniket, Hysi, Pirro G, Khor, Chiea-Chuen, Loomis, Stephanie J, Bailey, Jessica N Cooke, Gibson, Jane, Thorleifsson, Gudmar, Janssen, Sarah F, Luo, Xiaoyan, Ramdas, Wishal D, Vithana, Eranga, Nongpiur, Monisha E, Montgomery, Grant W, Xu, Liang, Mountain, Jenny E, Gharahkhani, Puya, Lu, Yi, Amin, Najaf, Karssen, Lennart C, Sim, Kar-Seng, van Leeuwen, Elisabeth M, Iglesias, Adriana I, Verhoeven, Virginie J M, Hauser, Michael A, Loon, Seng-Chee, Despriet, Dominiek D G, Nag, Abhishek, Venturini, Cristina, Sanfilippo, Paul G, Schillert, Arne, Kang, Jae H, Landers, John, Jonasson, Fridbert, Cree, Angela J, van Koolwijk, Leonieke M E, Rivadeneira, Fernando, Souzeau, Emmanuelle, Jonsson, Vesteinn, Menon, Geeta, Weinreb, Robert N, de Jong, Paulus T V M, Oostra, Ben A, Uitterlinden, André G, Hofman, Albert, Ennis, Sarah, Thorsteinsdottir, Unnur, Burdon, Kathryn P, Bergen, Arthur A B, and Blue Mountains Eye Study—GWAS group

Abstract

Glaucoma is characterized by irreversible optic nerve degeneration and is the most frequent cause of irreversible blindness worldwide. Here, the International Glaucoma Genetics Consortium conducts a meta-analysis of genome-wide association studies of vertical cup-disc ratio (VCDR), an important disease-related optic nerve parameter. In 21,094 individuals of European ancestry and 6,784 individuals of Asian ancestry, we identify 10 new loci associated with variation in VCDR. In a separate risk-score analysis of five case-control studies, Caucasians in the highest quintile have a 2.5-fold increased risk of primary open-angle glaucoma as compared with those in the lowest quintile. This study has more than doubled the known loci associated with optic disc cupping and will allow greater understanding of mechanisms involved in this common blinding condition.

Published
2014

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