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34 results on '"Verhoeven, Virginie J M"'

1. 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

2. 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

3. 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

4. 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

5. 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

6. 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

7. 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

8. 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, Kamermans, M., Ingeborgh van den Born, L, Klaver, Caroline C W, RD5000 Consortium, Hendriks, Michelle, Verhoeven, Virginie J M, Buitendijk, Gabriëlle H S, Polling, Jan Roelof, Meester-Smoor, Magda A, Hofman, Albert, Kamermans, M., Ingeborgh van den Born, L, Klaver, Caroline C W, and RD5000 Consortium
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: 302 patients with IRD from two ophthalmogenetic centers in the Netherlands. Reference population: population-based Rotterdam Study-III and ERF Study (N=5,550). 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; OR mild hyperopia 263.2, both P<0.0001; SE -6.86 D [SD 6.38]); followed by cone dominated dystrophies (OR high myopia 19.5, P<0.0001; OR high hyperopia 10.7, P=0.033; SE -3.10 D [SD 4.49]); rod dominated dystrophies (OR high myopia 10.1, P<0.0001; OR high hyperopia 9.7, P=0.001; SE -2.27 D [SD 4.65]); and RPE related dystrophies (OR low myopia 2.7; P=0.001; OR high hyperopia 5.8; P=0.025; SE -0.10 D [SD 3.09]). Mutations in RPGR (SE -7.63 D [SD 3.31]) and CACNA1F (SE -5.33 D [SD 3.10]) coincided with the highest degree of myopia; in CABP4 (SE 4.81 D [SD 0.35]) with the highest degree of hyperopia.CONCLUSIONS: Refractive errors, in particular myopia, are common in IRD. The bipolar synapse, and the inner and outer segments of the photoreceptor may serve as critical sites for myopia development.
Published: 2017

9. 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., RD5000 Consortium, 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

10. 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

11. 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., RD5000 Consortium, 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

12. 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., RD5000 Consortium, 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

13. 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

14. 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

15. 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

16. 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, Kamermans, M., Ingeborgh van den Born, L, Klaver, Caroline C W, RD5000 Consortium, Hendriks, Michelle, Verhoeven, Virginie J M, Buitendijk, Gabriëlle H S, Polling, Jan Roelof, Meester-Smoor, Magda A, Hofman, Albert, Kamermans, M., Ingeborgh van den Born, L, Klaver, Caroline C W, and RD5000 Consortium
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: 302 patients with IRD from two ophthalmogenetic centers in the Netherlands. Reference population: population-based Rotterdam Study-III and ERF Study (N=5,550). 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; OR mild hyperopia 263.2, both P<0.0001; SE -6.86 D [SD 6.38]); followed by cone dominated dystrophies (OR high myopia 19.5, P<0.0001; OR high hyperopia 10.7, P=0.033; SE -3.10 D [SD 4.49]); rod dominated dystrophies (OR high myopia 10.1, P<0.0001; OR high hyperopia 9.7, P=0.001; SE -2.27 D [SD 4.65]); and RPE related dystrophies (OR low myopia 2.7; P=0.001; OR high hyperopia 5.8; P=0.025; SE -0.10 D [SD 3.09]). Mutations in RPGR (SE -7.63 D [SD 3.31]) and CACNA1F (SE -5.33 D [SD 3.10]) coincided with the highest degree of myopia; in CABP4 (SE 4.81 D [SD 0.35]) with the highest degree of hyperopia.CONCLUSIONS: Refractive errors, in particular myopia, are common in IRD. The bipolar synapse, and the inner and outer segments of the photoreceptor may serve as critical sites for myopia development.
Published: 2017

17. 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

18. 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

19. 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

20. 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

21. 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

22. 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

23. 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., 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., and Hammond, Christopher J.
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

24. 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., 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., and Hammond, Christopher J.
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

25. 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., 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., and Hammond, Christopher J.
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

26. 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

27. 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., 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., and Hammond, Christopher J.
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

28. 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

29. 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., 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., and Hammond, Christopher J.
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

30. 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., 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., and Hammond, Christopher J.
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

31. Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia

Author: Verhoeven, Virginie J M, Hysi, Pirro G, Wojciechowski, Robert, Fan, Qiao, Guggenheim, Jeremy A, Höhn, René, MacGregor, Stuart, Hewitt, Alex W, Nag, Abhishek, Cheng, Ching-Yu, Yonova-Doing, Ekaterina, Zhou, Xin, Ikram, M Kamran, Buitendijk, Gabriëlle H S, McMahon, George, Kemp, John P, Pourcain, Beate St, Simpson, Claire L, Mäkelä, Kari-Matti, Lehtimäki, Terho, Kähönen, Mika, Paterson, Andrew D, Hosseini, S Mohsen, Wong, Hoi Suen, Xu, Liang, Jonas, Jost B, Pärssinen, Olavi, Wedenoja, Juho, Yip, Shea Ping, Ho, Daniel W H, Pang, Chi Pui, Chen, Li Jia, Burdon, Kathryn P, Craig, Jamie E, Klein, Barbara E K, Klein, Ronald, Haller, Toomas, Metspalu, Andres, Khor, Chiea-Chuen, Tai, E-Shyong, Aung, Tin, Vithana, Eranga, Tay, Wan-Ting, Barathi, Veluchamy A, Chen, Peng, Li, Ruoying, Liao, Jiemin, Zheng, Yingfeng, Ong, Rick T, Döring, Angela, Evans, David M, Timpson, Nicholas J, Verkerk, Annemieke J M H, Meitinger, Thomas, Raitakari, Olli, Hawthorne, Felicia, Spector, Tim D, Karssen, Lennart C, Pirastu, Mario, Murgia, Federico, Ang, Wei, Mishra, Aniket, Montgomery, Grant W, Pennell, Craig E, Cumberland, Phillippa M, Cotlarciuc, Ioana, Mitchell, Paul, Wang, Jie Jin, Schache, Maria, Janmahasathian, Sarayut, Jr, Robert P Igo, Lass, Jonathan H, Chew, Emily, Iyengar, Sudha K, Gorgels, Theo G M F, Rudan, Igor, Hayward, Caroline, Wright, Alan F, Polasek, Ozren, Vatavuk, Zoran, Wilson, James F, Fleck, Brian, Zeller, Tanja, Mirshahi, Alireza, Müller, Christian, Uitterlinden, André G, Rivadeneira, Fernando, Vingerling, Johannes R, Hofman, Albert, Oostra, Ben A, Amin, Najaf, Bergen, Arthur A B, Teo, Yik-Ying, Rahi, Jugnoo S, Jankowski, Janusz, Vitart, Veronique, Williams, Cathy, Baird, Paul N, Wong, Tien-Yin, Oexle, Konrad, Pfeiffer, Norbert, Mackey, David A, Young, Terri L, van Duijn, Cornelia M, Saw, Seang-Mei, Bailey-Wilson, Joan E, Stambolian, Dwight, Klaver, Caroline C, Hammond, Christopher J, Verhoeven, Virginie J M, Hysi, Pirro G, Wojciechowski, Robert, Fan, Qiao, Guggenheim, Jeremy A, Höhn, René, MacGregor, Stuart, Hewitt, Alex W, Nag, Abhishek, Cheng, Ching-Yu, Yonova-Doing, Ekaterina, Zhou, Xin, Ikram, M Kamran, Buitendijk, Gabriëlle H S, McMahon, George, Kemp, John P, Pourcain, Beate St, Simpson, Claire L, Mäkelä, Kari-Matti, Lehtimäki, Terho, Kähönen, Mika, Paterson, Andrew D, Hosseini, S Mohsen, Wong, Hoi Suen, Xu, Liang, Jonas, Jost B, Pärssinen, Olavi, Wedenoja, Juho, Yip, Shea Ping, Ho, Daniel W H, Pang, Chi Pui, Chen, Li Jia, Burdon, Kathryn P, Craig, Jamie E, Klein, Barbara E K, Klein, Ronald, Haller, Toomas, Metspalu, Andres, Khor, Chiea-Chuen, Tai, E-Shyong, Aung, Tin, Vithana, Eranga, Tay, Wan-Ting, Barathi, Veluchamy A, Chen, Peng, Li, Ruoying, Liao, Jiemin, Zheng, Yingfeng, Ong, Rick T, Döring, Angela, Evans, David M, Timpson, Nicholas J, Verkerk, Annemieke J M H, Meitinger, Thomas, Raitakari, Olli, Hawthorne, Felicia, Spector, Tim D, Karssen, Lennart C, Pirastu, Mario, Murgia, Federico, Ang, Wei, Mishra, Aniket, Montgomery, Grant W, Pennell, Craig E, Cumberland, Phillippa M, Cotlarciuc, Ioana, Mitchell, Paul, Wang, Jie Jin, Schache, Maria, Janmahasathian, Sarayut, Jr, Robert P Igo, Lass, Jonathan H, Chew, Emily, Iyengar, Sudha K, Gorgels, Theo G M F, Rudan, Igor, Hayward, Caroline, Wright, Alan F, Polasek, Ozren, Vatavuk, Zoran, Wilson, James F, Fleck, Brian, Zeller, Tanja, Mirshahi, Alireza, Müller, Christian, Uitterlinden, André G, Rivadeneira, Fernando, Vingerling, Johannes R, Hofman, Albert, Oostra, Ben A, Amin, Najaf, Bergen, Arthur A B, Teo, Yik-Ying, Rahi, Jugnoo S, Jankowski, Janusz, Vitart, Veronique, Williams, Cathy, Baird, Paul N, Wong, Tien-Yin, Oexle, Konrad, Pfeiffer, Norbert, Mackey, David A, Young, Terri L, van Duijn, Cornelia M, Saw, Seang-Mei, Bailey-Wilson, Joan E, Stambolian, Dwight, Klaver, Caroline C, and Hammond, Christopher J
Abstract: Refractive error is the most common eye disorder worldwide and is a prominent cause of blindness. Myopia affects over 30% of Western populations and up to 80% of Asians. The CREAM consortium conducted genome-wide meta-analyses, including 37,382 individuals from 27 studies of European ancestry and 8,376 from 5 Asian cohorts. We identified 16 new loci for refractive error in individuals of European ancestry, of which 8 were shared with Asians. Combined analysis identified 8 additional associated loci. The new loci include candidate genes with functions in neurotransmission (GRIA4), ion transport (KCNQ5), retinoic acid metabolism (RDH5), extracellular matrix remodeling (LAMA2 and BMP2) and eye development (SIX6 and PRSS56). We also confirmed previously reported associations with GJD2 and RASGRF1. Risk score analysis using associated SNPs showed a tenfold increased risk of myopia for individuals carrying the highest genetic load. Our results, based on a large meta-analysis across independent multiancestry studies, considerably advance understanding of the mechanisms involved in refractive error and myopia.
Published: 2013

32. Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia

Author: Verhoeven, Virginie J M, Hysi, Pirro G, Wojciechowski, Robert, Fan, Qiao, Guggenheim, Jeremy A, Höhn, René, MacGregor, Stuart, Hewitt, Alex W, Nag, Abhishek, Cheng, Ching-Yu, Yonova-Doing, Ekaterina, Zhou, Xin, Ikram, M Kamran, Buitendijk, Gabriëlle H S, McMahon, George, Kemp, John P, Pourcain, Beate St, Simpson, Claire L, Mäkelä, Kari-Matti, Lehtimäki, Terho, Kähönen, Mika, Paterson, Andrew D, Hosseini, S Mohsen, Wong, Hoi Suen, Xu, Liang, Jonas, Jost B, Pärssinen, Olavi, Wedenoja, Juho, Yip, Shea Ping, Ho, Daniel W H, Pang, Chi Pui, Chen, Li Jia, Burdon, Kathryn P, Craig, Jamie E, Klein, Barbara E K, Klein, Ronald, Haller, Toomas, Metspalu, Andres, Khor, Chiea-Chuen, Tai, E-Shyong, Aung, Tin, Vithana, Eranga, Tay, Wan-Ting, Barathi, Veluchamy A, Chen, Peng, Li, Ruoying, Liao, Jiemin, Zheng, Yingfeng, Ong, Rick T, Döring, Angela, Evans, David M, Timpson, Nicholas J, Verkerk, Annemieke J M H, Meitinger, Thomas, Raitakari, Olli, Hawthorne, Felicia, Spector, Tim D, Karssen, Lennart C, Pirastu, Mario, Murgia, Federico, Ang, Wei, Mishra, Aniket, Montgomery, Grant W, Pennell, Craig E, Cumberland, Phillippa M, Cotlarciuc, Ioana, Mitchell, Paul, Wang, Jie Jin, Schache, Maria, Janmahasathian, Sarayut, Jr, Robert P Igo, Lass, Jonathan H, Chew, Emily, Iyengar, Sudha K, Gorgels, Theo G M F, Rudan, Igor, Hayward, Caroline, Wright, Alan F, Polasek, Ozren, Vatavuk, Zoran, Wilson, James F, Fleck, Brian, Zeller, Tanja, Mirshahi, Alireza, Müller, Christian, Uitterlinden, André G, Rivadeneira, Fernando, Vingerling, Johannes R, Hofman, Albert, Oostra, Ben A, Amin, Najaf, Bergen, Arthur A B, Teo, Yik-Ying, Rahi, Jugnoo S, Jankowski, Janusz, Vitart, Veronique, Williams, Cathy, Baird, Paul N, Wong, Tien-Yin, Oexle, Konrad, Pfeiffer, Norbert, Mackey, David A, Young, Terri L, van Duijn, Cornelia M, Saw, Seang-Mei, Bailey-Wilson, Joan E, Stambolian, Dwight, Klaver, Caroline C, Hammond, Christopher J, Verhoeven, Virginie J M, Hysi, Pirro G, Wojciechowski, Robert, Fan, Qiao, Guggenheim, Jeremy A, Höhn, René, MacGregor, Stuart, Hewitt, Alex W, Nag, Abhishek, Cheng, Ching-Yu, Yonova-Doing, Ekaterina, Zhou, Xin, Ikram, M Kamran, Buitendijk, Gabriëlle H S, McMahon, George, Kemp, John P, Pourcain, Beate St, Simpson, Claire L, Mäkelä, Kari-Matti, Lehtimäki, Terho, Kähönen, Mika, Paterson, Andrew D, Hosseini, S Mohsen, Wong, Hoi Suen, Xu, Liang, Jonas, Jost B, Pärssinen, Olavi, Wedenoja, Juho, Yip, Shea Ping, Ho, Daniel W H, Pang, Chi Pui, Chen, Li Jia, Burdon, Kathryn P, Craig, Jamie E, Klein, Barbara E K, Klein, Ronald, Haller, Toomas, Metspalu, Andres, Khor, Chiea-Chuen, Tai, E-Shyong, Aung, Tin, Vithana, Eranga, Tay, Wan-Ting, Barathi, Veluchamy A, Chen, Peng, Li, Ruoying, Liao, Jiemin, Zheng, Yingfeng, Ong, Rick T, Döring, Angela, Evans, David M, Timpson, Nicholas J, Verkerk, Annemieke J M H, Meitinger, Thomas, Raitakari, Olli, Hawthorne, Felicia, Spector, Tim D, Karssen, Lennart C, Pirastu, Mario, Murgia, Federico, Ang, Wei, Mishra, Aniket, Montgomery, Grant W, Pennell, Craig E, Cumberland, Phillippa M, Cotlarciuc, Ioana, Mitchell, Paul, Wang, Jie Jin, Schache, Maria, Janmahasathian, Sarayut, Jr, Robert P Igo, Lass, Jonathan H, Chew, Emily, Iyengar, Sudha K, Gorgels, Theo G M F, Rudan, Igor, Hayward, Caroline, Wright, Alan F, Polasek, Ozren, Vatavuk, Zoran, Wilson, James F, Fleck, Brian, Zeller, Tanja, Mirshahi, Alireza, Müller, Christian, Uitterlinden, André G, Rivadeneira, Fernando, Vingerling, Johannes R, Hofman, Albert, Oostra, Ben A, Amin, Najaf, Bergen, Arthur A B, Teo, Yik-Ying, Rahi, Jugnoo S, Jankowski, Janusz, Vitart, Veronique, Williams, Cathy, Baird, Paul N, Wong, Tien-Yin, Oexle, Konrad, Pfeiffer, Norbert, Mackey, David A, Young, Terri L, van Duijn, Cornelia M, Saw, Seang-Mei, Bailey-Wilson, Joan E, Stambolian, Dwight, Klaver, Caroline C, and Hammond, Christopher J
Abstract: Refractive error is the most common eye disorder worldwide and is a prominent cause of blindness. Myopia affects over 30% of Western populations and up to 80% of Asians. The CREAM consortium conducted genome-wide meta-analyses, including 37,382 individuals from 27 studies of European ancestry and 8,376 from 5 Asian cohorts. We identified 16 new loci for refractive error in individuals of European ancestry, of which 8 were shared with Asians. Combined analysis identified 8 additional associated loci. The new loci include candidate genes with functions in neurotransmission (GRIA4), ion transport (KCNQ5), retinoic acid metabolism (RDH5), extracellular matrix remodeling (LAMA2 and BMP2) and eye development (SIX6 and PRSS56). We also confirmed previously reported associations with GJD2 and RASGRF1. Risk score analysis using associated SNPs showed a tenfold increased risk of myopia for individuals carrying the highest genetic load. Our results, based on a large meta-analysis across independent multiancestry studies, considerably advance understanding of the mechanisms involved in refractive error and myopia.
Published: 2013

33. Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia

Author: Verhoeven, Virginie J M, Hysi, Pirro G, Wojciechowski, Robert, Fan, Qiao, Guggenheim, Jeremy A, Höhn, René, MacGregor, Stuart, Hewitt, Alex W, Nag, Abhishek, Cheng, Ching-Yu, Yonova-Doing, Ekaterina, Zhou, Xin, Ikram, M Kamran, Buitendijk, Gabriëlle H S, McMahon, George, Kemp, John P, Pourcain, Beate St, Simpson, Claire L, Mäkelä, Kari-Matti, Lehtimäki, Terho, Kähönen, Mika, Paterson, Andrew D, Hosseini, S Mohsen, Wong, Hoi Suen, Xu, Liang, Jonas, Jost B, Pärssinen, Olavi, Wedenoja, Juho, Yip, Shea Ping, Ho, Daniel W H, Pang, Chi Pui, Chen, Li Jia, Burdon, Kathryn P, Craig, Jamie E, Klein, Barbara E K, Klein, Ronald, Haller, Toomas, Metspalu, Andres, Khor, Chiea-Chuen, Tai, E-Shyong, Aung, Tin, Vithana, Eranga, Tay, Wan-Ting, Barathi, Veluchamy A, Chen, Peng, Li, Ruoying, Liao, Jiemin, Zheng, Yingfeng, Ong, Rick T, Döring, Angela, Evans, David M, Timpson, Nicholas J, Verkerk, Annemieke J M H, Meitinger, Thomas, Raitakari, Olli, Hawthorne, Felicia, Spector, Tim D, Karssen, Lennart C, Pirastu, Mario, Murgia, Federico, Ang, Wei, Mishra, Aniket, Montgomery, Grant W, Pennell, Craig E, Cumberland, Phillippa M, Cotlarciuc, Ioana, Mitchell, Paul, Wang, Jie Jin, Schache, Maria, Janmahasathian, Sarayut, Jr, Robert P Igo, Lass, Jonathan H, Chew, Emily, Iyengar, Sudha K, Gorgels, Theo G M F, Rudan, Igor, Hayward, Caroline, Wright, Alan F, Polasek, Ozren, Vatavuk, Zoran, Wilson, James F, Fleck, Brian, Zeller, Tanja, Mirshahi, Alireza, Müller, Christian, Uitterlinden, André G, Rivadeneira, Fernando, Vingerling, Johannes R, Hofman, Albert, Oostra, Ben A, Amin, Najaf, Bergen, Arthur A B, Teo, Yik-Ying, Rahi, Jugnoo S, Jankowski, Janusz, Vitart, Veronique, Williams, Cathy, Baird, Paul N, Wong, Tien-Yin, Oexle, Konrad, Pfeiffer, Norbert, Mackey, David A, Young, Terri L, van Duijn, Cornelia M, Saw, Seang-Mei, Bailey-Wilson, Joan E, Stambolian, Dwight, Klaver, Caroline C, Hammond, Christopher J, Verhoeven, Virginie J M, Hysi, Pirro G, Wojciechowski, Robert, Fan, Qiao, Guggenheim, Jeremy A, Höhn, René, MacGregor, Stuart, Hewitt, Alex W, Nag, Abhishek, Cheng, Ching-Yu, Yonova-Doing, Ekaterina, Zhou, Xin, Ikram, M Kamran, Buitendijk, Gabriëlle H S, McMahon, George, Kemp, John P, Pourcain, Beate St, Simpson, Claire L, Mäkelä, Kari-Matti, Lehtimäki, Terho, Kähönen, Mika, Paterson, Andrew D, Hosseini, S Mohsen, Wong, Hoi Suen, Xu, Liang, Jonas, Jost B, Pärssinen, Olavi, Wedenoja, Juho, Yip, Shea Ping, Ho, Daniel W H, Pang, Chi Pui, Chen, Li Jia, Burdon, Kathryn P, Craig, Jamie E, Klein, Barbara E K, Klein, Ronald, Haller, Toomas, Metspalu, Andres, Khor, Chiea-Chuen, Tai, E-Shyong, Aung, Tin, Vithana, Eranga, Tay, Wan-Ting, Barathi, Veluchamy A, Chen, Peng, Li, Ruoying, Liao, Jiemin, Zheng, Yingfeng, Ong, Rick T, Döring, Angela, Evans, David M, Timpson, Nicholas J, Verkerk, Annemieke J M H, Meitinger, Thomas, Raitakari, Olli, Hawthorne, Felicia, Spector, Tim D, Karssen, Lennart C, Pirastu, Mario, Murgia, Federico, Ang, Wei, Mishra, Aniket, Montgomery, Grant W, Pennell, Craig E, Cumberland, Phillippa M, Cotlarciuc, Ioana, Mitchell, Paul, Wang, Jie Jin, Schache, Maria, Janmahasathian, Sarayut, Jr, Robert P Igo, Lass, Jonathan H, Chew, Emily, Iyengar, Sudha K, Gorgels, Theo G M F, Rudan, Igor, Hayward, Caroline, Wright, Alan F, Polasek, Ozren, Vatavuk, Zoran, Wilson, James F, Fleck, Brian, Zeller, Tanja, Mirshahi, Alireza, Müller, Christian, Uitterlinden, André G, Rivadeneira, Fernando, Vingerling, Johannes R, Hofman, Albert, Oostra, Ben A, Amin, Najaf, Bergen, Arthur A B, Teo, Yik-Ying, Rahi, Jugnoo S, Jankowski, Janusz, Vitart, Veronique, Williams, Cathy, Baird, Paul N, Wong, Tien-Yin, Oexle, Konrad, Pfeiffer, Norbert, Mackey, David A, Young, Terri L, van Duijn, Cornelia M, Saw, Seang-Mei, Bailey-Wilson, Joan E, Stambolian, Dwight, Klaver, Caroline C, and Hammond, Christopher J
Abstract: Refractive error is the most common eye disorder worldwide and is a prominent cause of blindness. Myopia affects over 30% of Western populations and up to 80% of Asians. The CREAM consortium conducted genome-wide meta-analyses, including 37,382 individuals from 27 studies of European ancestry and 8,376 from 5 Asian cohorts. We identified 16 new loci for refractive error in individuals of European ancestry, of which 8 were shared with Asians. Combined analysis identified 8 additional associated loci. The new loci include candidate genes with functions in neurotransmission (GRIA4), ion transport (KCNQ5), retinoic acid metabolism (RDH5), extracellular matrix remodeling (LAMA2 and BMP2) and eye development (SIX6 and PRSS56). We also confirmed previously reported associations with GJD2 and RASGRF1. Risk score analysis using associated SNPs showed a tenfold increased risk of myopia for individuals carrying the highest genetic load. Our results, based on a large meta-analysis across independent multiancestry studies, considerably advance understanding of the mechanisms involved in refractive error and myopia.
Published: 2013

34. Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia

Author: Verhoeven, Virginie J M, Hysi, Pirro G, Wojciechowski, Robert, Fan, Qiao, Guggenheim, Jeremy A, Höhn, René, MacGregor, Stuart, Hewitt, Alex W, Nag, Abhishek, Cheng, Ching-Yu, Yonova-Doing, Ekaterina, Zhou, Xin, Ikram, M Kamran, Buitendijk, Gabriëlle H S, McMahon, George, Kemp, John P, Pourcain, Beate St, Simpson, Claire L, Mäkelä, Kari-Matti, Lehtimäki, Terho, Kähönen, Mika, Paterson, Andrew D, Hosseini, S Mohsen, Wong, Hoi Suen, Xu, Liang, Jonas, Jost B, Pärssinen, Olavi, Wedenoja, Juho, Yip, Shea Ping, Ho, Daniel W H, Pang, Chi Pui, Chen, Li Jia, Burdon, Kathryn P, Craig, Jamie E, Klein, Barbara E K, Klein, Ronald, Haller, Toomas, Metspalu, Andres, Khor, Chiea-Chuen, Tai, E-Shyong, Aung, Tin, Vithana, Eranga, Tay, Wan-Ting, Barathi, Veluchamy A, Chen, Peng, Li, Ruoying, Liao, Jiemin, Zheng, Yingfeng, Ong, Rick T, Döring, Angela, Evans, David M, Timpson, Nicholas J, Verkerk, Annemieke J M H, Meitinger, Thomas, Raitakari, Olli, Hawthorne, Felicia, Spector, Tim D, Karssen, Lennart C, Pirastu, Mario, Murgia, Federico, Ang, Wei, Mishra, Aniket, Montgomery, Grant W, Pennell, Craig E, Cumberland, Phillippa M, Cotlarciuc, Ioana, Mitchell, Paul, Wang, Jie Jin, Schache, Maria, Janmahasathian, Sarayut, Jr, Robert P Igo, Lass, Jonathan H, Chew, Emily, Iyengar, Sudha K, Gorgels, Theo G M F, Rudan, Igor, Hayward, Caroline, Wright, Alan F, Polasek, Ozren, Vatavuk, Zoran, Wilson, James F, Fleck, Brian, Zeller, Tanja, Mirshahi, Alireza, Müller, Christian, Uitterlinden, André G, Rivadeneira, Fernando, Vingerling, Johannes R, Hofman, Albert, Oostra, Ben A, Amin, Najaf, Bergen, Arthur A B, Teo, Yik-Ying, Rahi, Jugnoo S, Jankowski, Janusz, Vitart, Veronique, Williams, Cathy, Baird, Paul N, Wong, Tien-Yin, Oexle, Konrad, Pfeiffer, Norbert, Mackey, David A, Young, Terri L, van Duijn, Cornelia M, Saw, Seang-Mei, Bailey-Wilson, Joan E, Stambolian, Dwight, Klaver, Caroline C, Hammond, Christopher J, Verhoeven, Virginie J M, Hysi, Pirro G, Wojciechowski, Robert, Fan, Qiao, Guggenheim, Jeremy A, Höhn, René, MacGregor, Stuart, Hewitt, Alex W, Nag, Abhishek, Cheng, Ching-Yu, Yonova-Doing, Ekaterina, Zhou, Xin, Ikram, M Kamran, Buitendijk, Gabriëlle H S, McMahon, George, Kemp, John P, Pourcain, Beate St, Simpson, Claire L, Mäkelä, Kari-Matti, Lehtimäki, Terho, Kähönen, Mika, Paterson, Andrew D, Hosseini, S Mohsen, Wong, Hoi Suen, Xu, Liang, Jonas, Jost B, Pärssinen, Olavi, Wedenoja, Juho, Yip, Shea Ping, Ho, Daniel W H, Pang, Chi Pui, Chen, Li Jia, Burdon, Kathryn P, Craig, Jamie E, Klein, Barbara E K, Klein, Ronald, Haller, Toomas, Metspalu, Andres, Khor, Chiea-Chuen, Tai, E-Shyong, Aung, Tin, Vithana, Eranga, Tay, Wan-Ting, Barathi, Veluchamy A, Chen, Peng, Li, Ruoying, Liao, Jiemin, Zheng, Yingfeng, Ong, Rick T, Döring, Angela, Evans, David M, Timpson, Nicholas J, Verkerk, Annemieke J M H, Meitinger, Thomas, Raitakari, Olli, Hawthorne, Felicia, Spector, Tim D, Karssen, Lennart C, Pirastu, Mario, Murgia, Federico, Ang, Wei, Mishra, Aniket, Montgomery, Grant W, Pennell, Craig E, Cumberland, Phillippa M, Cotlarciuc, Ioana, Mitchell, Paul, Wang, Jie Jin, Schache, Maria, Janmahasathian, Sarayut, Jr, Robert P Igo, Lass, Jonathan H, Chew, Emily, Iyengar, Sudha K, Gorgels, Theo G M F, Rudan, Igor, Hayward, Caroline, Wright, Alan F, Polasek, Ozren, Vatavuk, Zoran, Wilson, James F, Fleck, Brian, Zeller, Tanja, Mirshahi, Alireza, Müller, Christian, Uitterlinden, André G, Rivadeneira, Fernando, Vingerling, Johannes R, Hofman, Albert, Oostra, Ben A, Amin, Najaf, Bergen, Arthur A B, Teo, Yik-Ying, Rahi, Jugnoo S, Jankowski, Janusz, Vitart, Veronique, Williams, Cathy, Baird, Paul N, Wong, Tien-Yin, Oexle, Konrad, Pfeiffer, Norbert, Mackey, David A, Young, Terri L, van Duijn, Cornelia M, Saw, Seang-Mei, Bailey-Wilson, Joan E, Stambolian, Dwight, Klaver, Caroline C, and Hammond, Christopher J
Abstract: Refractive error is the most common eye disorder worldwide and is a prominent cause of blindness. Myopia affects over 30% of Western populations and up to 80% of Asians. The CREAM consortium conducted genome-wide meta-analyses, including 37,382 individuals from 27 studies of European ancestry and 8,376 from 5 Asian cohorts. We identified 16 new loci for refractive error in individuals of European ancestry, of which 8 were shared with Asians. Combined analysis identified 8 additional associated loci. The new loci include candidate genes with functions in neurotransmission (GRIA4), ion transport (KCNQ5), retinoic acid metabolism (RDH5), extracellular matrix remodeling (LAMA2 and BMP2) and eye development (SIX6 and PRSS56). We also confirmed previously reported associations with GJD2 and RASGRF1. Risk score analysis using associated SNPs showed a tenfold increased risk of myopia for individuals carrying the highest genetic load. Our results, based on a large meta-analysis across independent multiancestry studies, considerably advance understanding of the mechanisms involved in refractive error and myopia.
Published: 2013

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34 results on '"Verhoeven, Virginie J M"'

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

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

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

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

31. Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia

32. Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia

33. Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia

34. Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia

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34 results on '"Verhoeven, Virginie J M"'

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