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Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process
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 dise...
| Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Pub. Group
2014
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4199103/ https://www.ncbi.nlm.nih.gov/pubmed/25241763 http://dx.doi.org/10.1038/ncomms5883 |
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| 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. Spector, Timothy D. Mirshahi, Alireza Saw, Seang-Mei Vingerling, Johannes R. Teo, Yik-Ying Haines, Jonathan L. Wolfs, Roger C. W. Lemij, Hans G. Tai, E-Shyong Jansonius, Nomdo M. Jonas, Jost B. Cheng, Ching-Yu Aung, Tin Viswanathan, Ananth C. Klaver, Caroline C. W. Craig, Jamie E. Macgregor, Stuart Mackey, David A. Lotery, Andrew J. Stefansson, Kari Bergen, Arthur A. B. Young, Terri L. Wiggs, Janey L. Pfeiffer, Norbert Wong, Tien-Yin Pasquale, Louis R. Hewitt, Alex W. van Duijn, Cornelia M. Hammond, Christopher J. |
| author_facet | 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. Spector, Timothy D. Mirshahi, Alireza Saw, Seang-Mei Vingerling, Johannes R. Teo, Yik-Ying Haines, Jonathan L. Wolfs, Roger C. W. Lemij, Hans G. Tai, E-Shyong Jansonius, Nomdo M. Jonas, Jost B. Cheng, Ching-Yu Aung, Tin Viswanathan, Ananth C. Klaver, Caroline C. W. Craig, Jamie E. Macgregor, Stuart Mackey, David A. Lotery, Andrew J. Stefansson, Kari Bergen, Arthur A. B. Young, Terri L. Wiggs, Janey L. Pfeiffer, Norbert Wong, Tien-Yin Pasquale, Louis R. Hewitt, Alex W. van Duijn, Cornelia M. Hammond, Christopher J. |
| author_sort | Springelkamp, Henriët. |
| collection | PubMed |
| description | 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. |
| format | Online Article Text |
| id | pubmed-4199103 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2014 |
| publisher | Nature Pub. Group |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-41991032014-10-17 Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process 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. Spector, Timothy D. Mirshahi, Alireza Saw, Seang-Mei Vingerling, Johannes R. Teo, Yik-Ying Haines, Jonathan L. Wolfs, Roger C. W. Lemij, Hans G. Tai, E-Shyong Jansonius, Nomdo M. Jonas, Jost B. Cheng, Ching-Yu Aung, Tin Viswanathan, Ananth C. Klaver, Caroline C. W. Craig, Jamie E. Macgregor, Stuart Mackey, David A. Lotery, Andrew J. Stefansson, Kari Bergen, Arthur A. B. Young, Terri L. Wiggs, Janey L. Pfeiffer, Norbert Wong, Tien-Yin Pasquale, Louis R. Hewitt, Alex W. van Duijn, Cornelia M. Hammond, Christopher J. Nat Commun Article 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. Nature Pub. Group 2014-09-22 /pmc/articles/PMC4199103/ /pubmed/25241763 http://dx.doi.org/10.1038/ncomms5883 Text en Copyright © 2014, Nature Publishing Group, a division of Macmillan Publishers Limited. All Rights Reserved. http://creativecommons.org/licenses/by/4.0/ This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ |
| spellingShingle | Article 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. Spector, Timothy D. Mirshahi, Alireza Saw, Seang-Mei Vingerling, Johannes R. Teo, Yik-Ying Haines, Jonathan L. Wolfs, Roger C. W. Lemij, Hans G. Tai, E-Shyong Jansonius, Nomdo M. Jonas, Jost B. Cheng, Ching-Yu Aung, Tin Viswanathan, Ananth C. Klaver, Caroline C. W. Craig, Jamie E. Macgregor, Stuart Mackey, David A. Lotery, Andrew J. Stefansson, Kari Bergen, Arthur A. B. Young, Terri L. Wiggs, Janey L. Pfeiffer, Norbert Wong, Tien-Yin Pasquale, Louis R. Hewitt, Alex W. van Duijn, Cornelia M. Hammond, Christopher J. Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process |
| title | Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process |
| title_full | Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process |
| title_fullStr | Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process |
| title_full_unstemmed | Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process |
| title_short | Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process |
| title_sort | meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process |
| topic | Article |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4199103/ https://www.ncbi.nlm.nih.gov/pubmed/25241763 http://dx.doi.org/10.1038/ncomms5883 |
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