Seven new loci associated with age-related macular degeneration

Fritsche, Lars G. and Chen, Wei and Schu, Matthew and Yaspan, Brian L. and Yu, Yi and Thorleifsson, Gudmar and Zack, Donald J. and Arakawa, Satoshi and Cipriani, Valentina and Ripke, Stephan and Igo, Robert P. and Buitendijk, Gabrielle H. S. and Sim, Xueling and Weeks, Daniel E. and Guymer, Robyn H. and Merriam, Joanna E. and Francis, Peter J. and Hannum, Gregory and Agarwal, Anita and Armbrecht, Ana Maria and Audo, Isabelle and Aung, Tin and Barile, Gaetano R. and Benchaboune, Mustapha and Bird, Alan C. and Bishop, Paul N. and Branham, Kari E. and Brooks, Matthew and Brucker, Alexander J. and Cade, William H. and Cain, Melinda S. and Campochiaroll, Peter A. and Chan, Chi-Chao and Cheng, Ching-Yu and Chew, Emily Y. and Chin, Kimberly A. and Chowers, Itay and Clayton, David G. and Cojocaru, Radu and Conley, Yvette P. and Cornes, Belinda K. and Daly, Mark J. and Dhillon, Baljean and Edwards, Albert and Evangelou, Evangelos and Fagemess, Jesen and Ferreyra, Henry A. and Friedman, James S. and Geirsdottir, Asbjorg and George, Ronnie J. and Gieger, Christian and Gupta, Neel and Hagstrom, Stephanie A. and Harding, Simon P. and Haritoglou, Christos and Heckenlively, John R. and Hoz, Frank G. and Hughes, Guy and Ioannidis, John P. A. and Ishibashi, Tatsuro and Joseph, Peronne and Jun, Gyungah and Kamatani, Yoichiro and Katsanis, Nicholas and Keilhauer, Claudia N. and Khan, Jane C. and Kim, Ivana K. and Kiyohara, Yutaka and Klein, Barbara E. K. and Klein, Ronald and Kovach, Jaclyn L. and Kozak, Igor and Lee, Clara J. and Lee, Kristine E. and Lichtner, Peter and Lotery, Andrew J. and Meitinger, Thomas and Mitchell, Paul and Mohand-Saied, Saddek and Moore, Anthony T. and Morgan, Denise J. and Morrison, Margaux A. and Myers, Chelsea E. and Naj, Adam C. and Nakamura, Yusuke and Okada, Yukinori and Orlin, Anton and Ortube, M. Carolina and Othman, Mohammad I. and Pappas, Chris and Park, Kyu Hyung and Pauer, Gayle J. T. and Peachey, Neal S. and Poch, Olivier and Priya, Rinki Ratna and Reynolds, Robyn and Richardson, Andrea J. and Ripp, Raymond and Rudolph, Guenther and Ryu, Euijung and Sahel, Jose-Alain and Schaumberg, Debra A. and Scholl, Hendrik P. N. and Schwartz, Stephen G. and Scott, William K. and Shahid, Humma and Sigurdsson, Haraldur and Silvestri, Giuliana and Sivakumaran, Theru A. and Smith, R. Theodore and Sobrin, Lucia and Souied, Eric H. and Stambolian, Dwight E. and Stefansson, Hreinn and Sturgill-Short, Gwen M. and Takahashi, Atsushi and Tosakulwong, Nirubol and Truitt, Barbara J. and Tsironi, Evangelia E. and Uitterlinden, Andre G. and van Duijn, Cornelia M. and Vijaya, Lingam and Vingerling, Johannes R. and Vithana, Eranga N. and Webster, Andrew R. and Wichmann, H-Erich and Winkler, Thomas W. and Wong, Tien Y. and Wright, Alan F. and Zelenika, Diana and Zhang, Ming and Zhao, Ling and Zhang, Kang and Klein, Michael L. and Hageman, Gregory S. and Lathrop, G. Mark and Stefansson, Kari and Allikmets, Rando and Baird, Paul N. and Gorin, Michael B. and Wang, Jie Jin and Klaver, Caroline C. W. and Seddon, Johanna M. and Pericak-Vance, Margaret A. and Iyengar, Sudha K. and Yates, John R. W. and Swaroop, Anand and Weber, Bernhard H. F. and Kubo, Michiaki and DeAngelis, Margaret M. and Leveillard, Thierry and Thorsteinsdottir, Unnur and Haines, Jonathan L. and Farrer, Lindsay A. and Heid, Iris M. and Abecasis, Goncalo R. (2013) Seven new loci associated with age-related macular degeneration. NATURE GENETICS, 45 (4). pp. 433-439. ISSN 1061-4036,

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Abstract

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 advanced AMD cases and >60,000 controls of European and Asian ancestry. We identified 19 loci associated at P < 5 x 10(-8) These loci show enrichment for genes involved in the regulation of complement activity, lipid metabolism, extracellular matrix remodeling and angiogenesis. Our results include seven loci with associations reaching P < 5 x 10-8 for the first time, near the genes COL8A1-FILIP1L, IER3-DDR1, SLC16A8, TGFBR1, RAD51B, ADAMTS9 and B3GALTL. A genetic risk score combining SNP genotypes from all loci showed similar ability to distinguish cases and controls in all samples examined. Our findings provide new directions for biological, genetic and therapeutic studies of AMD.

Item Type: Article
Uncontrolled Keywords: GENOME-WIDE ASSOCIATION; COMPLEMENT FACTOR-H; GENOTYPE IMPUTATION; APOLIPOPROTEIN-E; INFLUENCES RISK; SUSCEPTIBILITY; GENE; VARIANTS; DISEASES; CFH;
Subjects: 600 Technology > 610 Medical sciences Medicine
Divisions: Medicine > Institut für Epidemiologie und Präventivmedizin
Depositing User: Dr. Gernot Deinzer
Date Deposited: 20 Apr 2020 08:23
Last Modified: 20 Apr 2020 08:23
URI: https://pred.uni-regensburg.de/id/eprint/16938

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