Fritsche, Lars G. and Igl, Wilmar and Bailey, Jessica N. Cooke and Grassmann, Felix and Sengupta, Sebanti and Bragg-Gresham, Jennifer L. and Burdon, Kathryn P. and Hebbring, Scott J. and Wen, Cindy and Gorski, Mathias and Kim, Ivana K. and Cho, David and Zack, Donald and Souied, Eric and Scholl, Hendrik P. N. and Bala, Elisa and Lee, Kristine E. and Hunter, David J. and Sardell, Rebecca J. and Mitchell, Paul and Merriam, Joanna E. and Cipriani, Valentina and Hoffman, Joshua D. and Schick, Tina and Lechanteur, Yara T. E. and Guymer, Robyn H. and Johnson, Matthew P. and Jiang, Yingda and Stanton, Chloe M. and Buitendijk, Gabrielle H. S. and Zhan, Xiaowei and Kwong, Alan M. and Boleda, Alexis and Brooks, Matthew and Gieser, Linn and Ratnapriya, Rinki and Branham, Kari E. and Foerster, Johanna R. and Heckenlively, John R. and Othman, Mohammad I. and Vote, Brendan J. and Liang, Helena Hai and Souzeau, Emmanuelle and McAllister, Ian L. and Isaacs, Timothy and Hall, Janette and Lake, Stewart and Mackey, David A. and Constable, Ian J. and Craig, Jamie E. and Kitchner, Terrie E. and Yang, Zhenglin and Su, Zhiguang and Luo, Hongrong and Chen, Daniel and Hong Ouyang, and Flagg, Ken and Lin, Danni and Mao, Guanping and Ferreyra, Henry and Starke, Klaus and von Strachwitz, Claudia N. and Wolf, Armin and Brandl, Caroline and Rudolph, Guenther and Olden, Matthias and Morrison, Margaux A. and Morgan, Denise J. and Schu, Matthew and Ahn, Jeeyun and Silvestri, Giuliana and Tsironi, Evangelia E. and Park, Kyu Hyung and Farrer, Lindsay A. and Orlin, Anton and Brucker, Alexander and Li, Mingyao and Curcio, Christine A. and Mohand-Said, Saddek and Sahel, Jose-Main and Audo, Isabelle and Benchaboune, Mustapha and Cree, Angela J. and Rennie, Christina A. and Goverdhan, Srinivas V. and Grunin, Michelle and Hagbi-Levi, Shira and Campochiaro, Peter and Katsanis, Nicholas and Holz, Frank G. and Blond, Frederic and Blanche, Helene and Deleuze, Jean-Francois and Igo, Robert P. and Truitt, Barbara and Peachey, Neal S. and Meuer, Stacy M. and Myers, Chelsea E. and Moore, Emily L. and Klein, Ronald and Hauser, Michael A. and Postel, Eric A. and Courtenay, Monique D. and Schwartz, Stephen G. and Kovach, Jaclyn L. and Scott, William K. and Liew, Gerald and Tan, Ava G. and Gopinath, Bamini and Merriam, John C. and Smith, R. Theodore and Khan, Jane C. and Shahid, Humma and Moore, Anthony T. and McGrath, J. Allie and Laux, Renee and Brantley, Milam A. and Agarwal, Anita and Ersoy, Lebriz and Caramoy, Albert and Langmann, Thomas and Saksens, Nicole T. M. and de Jong, Eiko K. and Hoyng, Carel B. and Cain, Melinda S. and Richardson, Andrea J. and Martin, Tammy M. and Blangero, John and Weeks, Daniel E. and Dhillon, Bal and van Duijn, Cornelia M. and Doheny, Kimberly F. and Romm, Jane and Klaver, Caroline C. W. and Hayward, Caroline and Gorin, Michael B. and Klein, Michael L. and Baird, Paul N. and den Hollander, Anneke I. and Fauser, Sascha and Yates, John R. W. and Allikmets, Rando and Wang, Jie Jin and Schaumberg, Debra A. and Klein, Barbara E. K. and Hagstrom, Stephanie A. and Chowers, Itay and Lotery, Andrew J. and Leveillard, Thierry and Zhang, Kang and Brilliant, Murray H. and Hewitt, Alex W. and Swaroop, Anand and Chew, Emily Y. and Pericak-Vance, Margaret A. and DeAngelis, Margaret and Stambolian, Dwight and Haines, Jonathan L. and Iyengar, Sudha K. and Weber, Bernhard H. F. and Abecasis, Goncalo R. and Heid, Iris M. (2016) A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants. NATURE GENETICS, 48 (2). pp. 134-143. ISSN 1061-4036, 1546-1718
Full text not available from this repository. (Request a copy)Abstract
Advanced age-related macular degeneration (AMD) is the leading cause of blindness in the elderly, with limited therapeutic options. Here we report on a study of >12 million variants, including 163,714 directly genotyped, mostly rare, protein-altering variants. Analyzing 16,144 patients and 17,832 controls, we identify 52 independently associated common and rare variants (P < 5 x 10(-8)) distributed across 34 loci. Although wet and dry AMD subtypes exhibit predominantly shared genetics, we identify the first genetic association signal specific to wet AMD, near MMP9 (difference P value = 4.1 x 10(-10)). Very rare coding variants (frequency <0.1 %) in CFH, CFI and TIMP3 suggest causal roles for these genes, as does a splice variant in SLC16A8. Our results support the hypothesis that rare coding variants can pinpoint causal genes within known genetic loci and illustrate that applying the approach systematically to detect new loci requires extremely large sample sizes.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | SEQUENCING IDENTIFIES RARE; BODY-MASS INDEX; HIGH-RISK; SUSCEPTIBILITY LOCI; DISEASE; GENE; MUTATION; BIOLOGY; OSTEOARTHRITIS; METAANALYSIS; |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Institut für Epidemiologie und Präventivmedizin > Lehrstuhl für Genetische Epidemiologie |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 14 Mar 2019 09:27 |
| Last Modified: | 14 Mar 2019 09:27 |
| URI: | https://pred.uni-regensburg.de/id/eprint/2480 |
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