Modelling the genetic risk in age-related macular degeneration.

Autor: Felix Grassmann, Lars G Fritsche, Claudia N Keilhauer, Iris M Heid, Bernhard H F Weber

Publikováno v: PLoS ONE, Vol 7, Iss 5, p e37979 (2012)

Late-stage age-related macular degeneration (AMD) is a common sight-threatening disease of the central retina affecting approximately 1 in 30 Caucasians. Besides age and smoking, genetic variants from several gene loci have reproducibly been associat

Externí odkaz: https://doaj.org/article/07c42911a25f453083a544453d2b42b8

Seven new loci associated with age-related macular degeneration

Autor: Paul Mitchell, Lindsay A. Farrer, Ming Zhang, Mohammad Othman, Michiaki Kubo, André G. Uitterlinden, Anton Orlin, Kyu Hyung Park, Simon P. Harding, Yusuke Nakamura, Eric H Souied, William K. Scott, Gregory S. Hageman, Anita Agarwal, G. Rudolph, Henry Ferreyra, Yutaka Kiyohara, Humma Shahid, Yukinori Okada, Gregory Hannum, Hendrik P. N. Scholl, Christian Gieger, Clara Lee, H.-Erich Wichmann, Andrew R. Webster, Margaret A. Pericak-Vance, Brian L. Yaspan, Bernhard H. F. Weber, Gyungah Jun, Gabriëlle H.S. Buitendijk, Ching-Yu Cheng, Igor Kozak, Ana Maria Armbrecht, Gaetano R. Barile, Valentina Cipriani, Stephanie A. Hagstrom, Paul N. Baird, Margaret M. DeAngelis, Ronald Klein, Itay Chowers, Matthew Brooks, Mark J. Daly, Kimberly A Chin, Wei Chen, Thierry Léveillard, Cornelia M. van Duijn, Barbara E.K. Klein, Tien Yin Wong, Olivier Poch, Yi Yu, Peter Lichtner, Michael L. Klein, Lars G. Fritsche, Daniel E. Weeks, Radu Cojocaru, Gayle J.T. Pauer, Jaclyn L. Kovach, John R. Heckenlively, Jonathan L. Haines, Andrew J. Lotery, Nicholas Katsanis, Caroline C W Klaver, Stephan Ripke, Unnur Thorsteinsdottir, M. Carolina Ortube, Rando Allikmets, Nirubol Tosakulwong, Barbara Truitt, Robert P. Igo, Johanna M. Seddon, Kristine E. Lee, Emily Y. Chew, Kang Zhang, Debra A. Schaumberg, David Clayton, Frank G. Holz, Robyn Reynolds, Matthew Schu, Neal S. Peachey, Neel Gupta, Tatsuro Ishibashi, William Cade, Melinda Cain, Gwen M. Sturgill-Short, Jane C. Khan, Asbjorg Geirsdottir, Atsushi Takahashi, Thomas Meitinger, Belinda K. Cornes, Xueling Sim, Raymond Ripp, Evangelos Evangelou, Saddek Mohand-Said, Albert O. Edwards, Theru A. Sivakumaran, John P. A. Ioannidis, Kari Branham, Peronne Joseph, Jie Jin Wang, Chelsea E. Myers, Thomas W. Winkler, Johannes R. Vingerling, Robyn H. Guymer, Anthony T. Moore, Christos Haritoglou, Peter A. Campochiaro, Ronnie George, Chi-Chao Chan, Sudha K. Iyengar, Lucia Sobrin, Eranga N. Vithana, Haraldur Sigurdsson, James S. Friedman, Guy Hughes, Baljean Dhillon, Lingam Vijaya, Alan F. Wright, José-Alain Sahel, Rinki Ratna Priya, Tin Aung, R. Theodore Smith, Isabelle Audo, Satoshi Arakawa, Alexander J. Brucker, Gonçalo R. Abecasis, Evangelia E. Tsironi, Anand Swaroop, Mark Lathrop, Mustapha Benchaboune, Diana Zelenika, Joanna E. Merriam, Iris M. Heid, Denise J. Morgan, Michael B. Gorin, Donald J. Zack, Ling Zhao, Hreinn Stefansson, Andrea J. Richardson, Yvette P. Conley, Kari Stefansson, Giuliana Silvestri, Yoichiro Kamatani, Ivana K. Kim, Gudmar Thorleifsson, Stephen G. Schwartz, Alan C. Bird, Claudia N. Keilhauer, Euijung Ryu, Margaux A. Morrison, Chris Pappas, Dwight Stambolian, John R.W. Yates, Paul N. Bishop, Jesen Fagerness, Adam C. Naj, Peter J. Francis

Publikováno v: Nature genetics
Fritsche, L G, Chen, W, Schu, M, Yaspan, B L, Yu, Y, Thorleifsson, G, Zack, D J, Arakawa, S, Cipriani, V, Ripke, S, Igo, R P, Buitendijk, G H S, Sim, X, Weeks, D E, Guymer, R H, Merriam, J E, Francis, P J, Hannum, G, Agarwal, A, Armbrecht, A M, Audo, I, Aung, T, Barile, G R, Benchaboune, M, Bird, A C, Bishop, P N, Branham, K E, Brooks, M, Brucker, A J, Cade, W H, Cain, M S, Campochiaro, P A, Chan, C-C, Cheng, C-Y, Chew, E Y, Chin, K A, Chowers, I, Clayton, D G, Cojocaru, R, Conley, Y P, Cornes, B K, Daly, M J, Dhillon, B, Edwards, A O, Evangelou, E, Fagerness, J, Ferreyra, H A, Friedman, J S & Geirsdottir, A & Wright, A F 2013, ' Seven new loci associated with age-related macular degeneration ', Nature Genetics, vol. 45, no. 4, pp. 433-439 . https://doi.org/10.1038/ng.2578
Nature Genetics, 45(4), 433-439. Nature Publishing Group

Age-related macular degeneration (AMD) is a common cause of blindness in older individuals. To accelerate the understanding of AMD biology and help design new therapies, we executed a collaborative genome-wide association study, including >17,100 adv

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4451372e2f5850d354684c0f44ffcc5
https://doi.org/10.1038/ng.2578

Evidence of association of APOE with age-related macular degeneration - a pooled analysis of 15 studies

Autor: Giuliana Silvestri, Aroon D. Hingorani, Anthony T. Moore, Mohammad Othman, John Attia, Valentina Cipriani, Peter J. Francis, Astrid E. Fletcher, Claudia N. Keilhauer, Usha Chakravarthy, Fotis Topouzis, Lintje Ho, Anton Orlin, Julie Sawitzke, Johannes R. Vingerling, Johan H. Seland, Mati Rahu, Ammarin Thakkinstian, Laura Tomazzoli, Caroline Hayward, Michael Dean, Reecha Sofat, Paulus T. V. M. de Jong, Dwight Stambolian, Atsuhiro Kanda, Chia-Ling Kuo, Sarah Ennis, Alan F. Wright, Shilpa Dasari, Michael B. Gorin, Christopher Patterson, Anand Swaroop, Ian S. Young, Gonçalo R. Abecasis, Michael L. Klein, Lars G. Fritsche, Johanna M. Seddon, Andrew J. Lotery, Daniel E. Weeks, Caroline C W Klaver, Inga Peter, Gareth J. McKay, Wei Chen, Paul N. Baird, Bernhard H. F. Weber, John R.W. Yates, Andrew R. Webster, Gisèle Soubrane, Jesús Vioque, Robyn H. Guymer

Publikováno v: Human mutation, 32(12), 1407-1416. Wiley-Liss Inc.
McKay, G J, Patterson, C C, Chakravarthy, U, Dasari, S, Klaver, C C, Vingerling, J R, Ho, L, de Jong, P T V M, Fletcher, A E, Young, I S, Seland, J H, Rahu, M, Soubrane, G, Tomazzoli, L, Topouzis, F, Vioque, J, Hingorani, A D, Sofat, R, Dean, M, Sawitzke, J, Seddon, J M, Peter, I, Webster, A R, Moore, A T, Yates, J R W, Cipriani, V, Fritsche, L G, Weber, B H F, Keilhauer, C N, Lotery, A J, Ennis, S, Klein, M L, Francis, P J, Stambolian, D, Orlin, A, Gorin, M B, Weeks, D E, Kuo, C-L, Swaroop, A, Othman, M, Kanda, A, Chen, W, Abecasis, G R, Wright, A F, Hayward, C, Baird, P N, Guymer, R H, Attia, J, Thakkinstian, A & Silvestri, G 2011, ' Evidence of association of APOE with age-related macular degeneration : a pooled analysis of 15 studies ', Human Mutation: Variation, Informatics and Disease, vol. 32, no. 12, pp. 1407-16 . https://doi.org/10.1002/humu.21577
Human Mutation, 32(12), 1407-1416
McKay, G J, Patterson, C C, Chakravarthy, U, Dasari, S, Klaver, C C, Vingerling, J R, Ho, L, de Jong, P T V M, Fletcher, A E, Young, I S, Seland, J H, Rahu, M, Soubrane, G, Tomazzoli, L, Topouzis, F, Vioque, J, Hingorani, A D, Sofat, R, Dean, M, Sawitzke, J, Seddon, J M, Peter, I, Webster, A R, Moore, A T, Yates, J R W, Cipriani, V, Fritsche, L G, Weber, B H F, Keilhauer, C N, Lotery, A J, Ennis, S, Klein, M L, Francis, P J, Stambolian, D, Orlin, A, Gorin, M B, Weeks, D E, Kuo, C-L, Swaroop, A, Othman, M, Kanda, A, Chen, W, Abecasis, G R, Wright, A F, Hayward, C, Baird, P N, Guymer, R H, Attia, J, Thakkinstian, A & Silvestri, G 2011, ' Evidence of association of APOE with age-related macular degeneration: a pooled analysis of 15 studies. ', Human Mutation, vol. 32, no. 12, pp. 1407-16 . https://doi.org/10.1002/humu.21577
Human Mutation, 32, 1407-1416. Wiley-Liss Inc.
Human Mutation, 32(12), 1407-1416. Wiley-Liss Inc.

Age-related macular degeneration (AMD) is the most common cause of incurable visual impairment in high-income countries. Previous studies report inconsistent associations between AMD and apolipoprotein E (APOE), a lipid transport protein involved in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a27abd91a92a7ef60ffcfb8cc0231887
https://pure.eur.nl/en/publications/bcaea801-8a2c-477f-990e-aee566e84c79

Age-related macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNA

Autor: Sheila A. Fisher, Andreas Janssen, Lars G. Fritsche, Thomas Loenhardt, Andrea Rivera, Bernhard H. F. Weber, Claudia N. Keilhauer

Publikováno v: Nature Genetics. 40:892-896

Bernhard Weber and colleagues identify a previously unknown insertion-deletion polymorphism in ARMS2 (LOC387715), a gene associated with age-related macular degeneration. The variant leads to rapid mRNA turnover of the ARMS2 transcript, suggesting a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac3da93bdc1dabd8fdac3aafe446545a
https://doi.org/10.1038/ng.170

Case-control genetic association study of fibulin-6 (FBLN6orHMCN1) variants in age-related macular degeneration (AMD)

Autor: Claudia N. Keilhauer, Bernhard H. F. Weber, Sheila A. Fisher, Peter Lichtner, Lars G. Fritsche, Günther Rudolph, Thomas Meitinger, Andrea Rivera

Publikováno v: Human Mutation. 28:406-413

This article reports a well-powered age-related macular degeneration (AMD) case-control association study in the HMCN1 gene, showing that common variants do not account for a substantial proportion of AMD cases. Thus, the consistent linkage peak obse

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad1e065e84a88843cbb24bb309e6e6ff
https://doi.org/10.1002/humu.20464