A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

Fritsche, Lars G. (Lars); Igl, Wilmar; Bailey, Jessica N. Cooke; Sengupta, Sebanti; Strachwitz, C. (Claudia) von N. von; Grassmann, Felix; Bragg-Gresham, Jennifer L. (Jennifer L.); Burdon, Kathryn P. (Kathryn P.); Hebbring, Scott J. (Scott J.); Wen, Cindy; Gorski, Mathias; Cipriani, Valentina; Kim, Ivana K. (Ivana); Cho, David; Zack, Donald; Souied, Eric H. (Eric); Scholl, Hendrik P. N. (Hendrik); Schwartz, Stephen G.; Bala, Elisa; Lee, Kristine E.; Hunter, David J.; Sardell, Rebecca J. (Rebecca J.); Mitchell, Paul; Schwartz, S. M. (Stephen); Merriam, Joanna E. (Joanna); Hoffman, Joshua D. (Joshua D.); Schick, Tina; Shahid, M. (Mohammad); Lechanteur, Yara T. E. (Yara T. E.); Guymer, Robyn H. (Robyn); Johnson, Matthew P. (Matthew); Jiang, Yingda; Stanton, Chloe M. (Chloe); Buitendijk, Gabriëlle H. S. (Gabrielle); WYates, J. R. (John R.); Zhan, Xiaowei; Kwong, Alan M. (Alan M.); Boleda, Alexis; Brooks, Matthew; Gieser, Linn; Ratnapriya, Rinki; Cooke Bailey, J. N. (Jessica N.); Branham, Kari E. (Kari); Foerster, Johanna R. (Johanna R.); Heckenlively, John R. (John); Othman, Mohammad I. (Mohammad); Vote, Brendan J. (Brendan J.); Liang, Helena Hai; Souzeau, Emmanuelle; McAllister, Ian L. (Ian L.); Isaacs, Timothy; Hall, Janette; Lake, Stewart; Mackey, David A. (David); ELee, K. (Kristine); Constable, Ian J. (Ian J.); Craig, Jamie E. (Jamie E.); Kitchner, Terrie E. (Terrie E.); Yang, Zhenglin; Su, Zhiguang; Luo, Hongrong; Chen, Daniel; Ouyang, Hong; Cipriani, F. (Francesco); Flagg, Ken; Lin, Danni; Mao, Guanping; Stark, Klaus; Ferreyra, Henry A. (Henry); von Strachwitz, Claudia N.; Wolf, Armin; Brandl, Caroline; Rudolph, Guenther; Olden, Matthias; Morrison, Margaux A. (Margaux); Schu, Matthew; Ratna Priya, R. (Rinki); Morgan, Denise J. (Denise); Ahn, Jeeyun; Silvestri, Giuliana; Tsironi, Evangelia E. (Evangelia); Park, Kyu Hyung; Farrer, Lindsay A. (Lindsay); Orlin, Anton; Brucker, Alexander; Li, Mingyao; Curcio, Christine A. (Christine A.); Mohand-Saïd, Saddek; Sahel, José-Alain; Audo, Isabelle; Benchaboune, Mustapha; Campochiaro, Peter; Cree, Angela J. (Angela); Rennie, Christina A. (Christina A.); Goverdhan, Srinivas V. (Srinivas; Grunin, Michelle; Hagbi-Levi, Shira; Katsanis, Nicholas; Holz, Frank G.; Blond, Frédéric; Blanché, Hélène; Deleuze, Jean-François; Igo, Robert P. (Robert); Truitt, Barbara J. (Barbara); Li, X. (Xiaohui); Peachey, Neal S. (Neal ); Meuer, Stacy M. (Stacy); Myers, Chelsea E. (Chelsea); Moore, Emily L. (Emily L.); Klein, Ronald; Hauser, Michael A. (Michael); Postel, Eric A. (Eric); Courtenay, Monique D. (Monique D.); Campochiaro, B. (Betsy); Scott, William K. (William); Kovach, Jaclyn L. (Jaclyn); Liew, Gerald; Tan, Ava G. (Ava G.); Gopinath, Bamini; Merriam, John C.; Smith, R. Theodore; Khan, Jane C. (Jane); Shahid, Humma; Holz, J.-B.; Moore, Anthony T. (Anthony); McGrath, J. Allie; Laux, Reneé; Brantley, Milam A. (Milam); Agarwal, Anita; Ersoy, Lebriz; Caramoy, Albert; de Jong, Eiko K.; Langmann, Thomas; Saksens, Nicole T. M. (Nicole T.); Hoyng, Carel B.; Cain, Melinda S. (Melinda); Richardson, Andrea J. (Andrea); Martin, Tammy M. (Tammy M.); Blangero, John; Weeks, Daniel E. (Daniel); Dhillon, Bal; van Duijn, Cornelia M.; Doheny, Kimberly F. (Kimberly); Romm, Jane; Klaver, Caroline C. W. (Caroline); Hayward, Caroline; Gorin, Michael B. (Michael B.); Klein, Michael L. (Michael); den Hollander, Anneke I.; Baird, Paul N. (Paul); Fauser, Sascha; Yates, John R. W.; Duijn, C. M. (Cock) van; Wang, Jie Jin; Allikmets, Rando; Schaumberg, Debra A. (Debra); Klein, Barbara E. K. (Barbara); Hagstrom, Stephanie A. (Stephanie); Chowers, Itay; Lotery, Andrew J. (Andrew); Jong, E. K. (Eiko Kde); Zhang, Kang; Léveillard, Thierry; Brilliant, Murray H. (Murray H.); Chowers, Y. (Yehuda); Hewitt, Alex W.; Swaroop, Anand; Hollander, A. I. (Anneke) den; Chew, Emily Y. (Emily Y.); Pericak-Vance, Margaret A. (Margaret); Stambolian, Dwight; DeAngelis, Margaret M. (Margaret); Hewit, A. W. (Alex); Haines, Jonathan L. (Jonathan); Iyengar, Sudha K. (Sudha); Weber, Bernhard H. F. (Bernhard); Abecasis, Gonçalo R. (Gonçalo); Heid, Iris M. (Iris)

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Felix Grassmann
Fritsche et al., 2015

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Nature Research, Nature Genetics, 2(48), p. 134-143, 2015

DOI: 10.1038/ng.3448

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@article{Fritsche2015,
  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 &gt;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 },
  author = {Fritsche, Lars G. (Lars) and Igl, Wilmar and Bailey, Jessica N. Cooke and Sengupta, Sebanti and Strachwitz, C. (Claudia) von N. von and Grassmann, Felix and Bragg-Gresham, Jennifer L. (Jennifer L.) and Burdon, Kathryn P. (Kathryn P.) and Hebbring, Scott J. (Scott J.) and Wen, Cindy and Gorski, Mathias and Cipriani, Valentina and Kim, Ivana K. (Ivana) and Cho, David and Zack, Donald and Souied, Eric H. (Eric) and Scholl, Hendrik P. N. (Hendrik) and Schwartz, Stephen G. and Bala, Elisa and Lee, Kristine E. and Hunter, David J. and Sardell, Rebecca J. (Rebecca J.) and Mitchell, Paul and Schwartz, S. M. (Stephen) and Merriam, Joanna E. (Joanna) and Hoffman, Joshua D. (Joshua D.) and Schick, Tina and Shahid, M. (Mohammad) and Lechanteur, Yara T. E. (Yara T. E.) and Guymer, Robyn H. (Robyn) and Johnson, Matthew P. (Matthew) and Jiang, Yingda and Stanton, Chloe M. (Chloe) and Buitendijk, Gabriëlle H. S. (Gabrielle) and WYates, J. R. (John R.) and Zhan, Xiaowei and Kwong, Alan M. (Alan M.) and Boleda, Alexis and Brooks, Matthew and Gieser, Linn and Ratnapriya, Rinki and Cooke Bailey, J. N. (Jessica N.) and Branham, Kari E. (Kari) and Foerster, Johanna R. (Johanna R.) and Heckenlively, John R. (John) and Othman, Mohammad I. (Mohammad) and Vote, Brendan J. (Brendan J.) and Liang, Helena Hai and Souzeau, Emmanuelle and McAllister, Ian L. (Ian L.) and Isaacs, Timothy and Hall, Janette and Lake, Stewart and Mackey, David A. (David) and ELee, K. (Kristine) and Constable, Ian J. (Ian J.) and Craig, Jamie E. (Jamie E.) and Kitchner, Terrie E. (Terrie E.) and Yang, Zhenglin and Su, Zhiguang and Luo, Hongrong and Chen, Daniel and Ouyang, Hong and Cipriani, F. (Francesco) and Flagg, Ken and Lin, Danni and Mao, Guanping and Stark, Klaus and Ferreyra, Henry A. (Henry) and von Strachwitz, Claudia N. and Wolf, Armin and Brandl, Caroline and Rudolph, Guenther and Olden, Matthias and Morrison, Margaux A. (Margaux) and Schu, Matthew and Ratna Priya, R. (Rinki) and Morgan, Denise J. (Denise) and Ahn, Jeeyun and Silvestri, Giuliana and Tsironi, Evangelia E. (Evangelia) and Park, Kyu Hyung and Farrer, Lindsay A. (Lindsay) and Orlin, Anton and Brucker, Alexander and Li, Mingyao and Curcio, Christine A. (Christine A.) and Mohand-Saïd, Saddek and Sahel, José-Alain and Audo, Isabelle and Benchaboune, Mustapha and Campochiaro, Peter and Cree, Angela J. (Angela) and Rennie, Christina A. (Christina A.) and Goverdhan, Srinivas V. (Srinivas and Grunin, Michelle and Hagbi-Levi, Shira and Katsanis, Nicholas and Holz, Frank G. and Blond, Frédéric and Blanché, Hélène and Deleuze, Jean-François and Igo, Robert P. (Robert) and Truitt, Barbara J. (Barbara) and Li, X. (Xiaohui) and Peachey, Neal S. (Neal ) and Meuer, Stacy M. (Stacy) and Myers, Chelsea E. (Chelsea) and Moore, Emily L. (Emily L.) and Klein, Ronald and Hauser, Michael A. (Michael) and Postel, Eric A. (Eric) and Courtenay, Monique D. (Monique D.) and Campochiaro, B. (Betsy) and Scott, William K. (William) and Kovach, Jaclyn L. (Jaclyn) and Liew, Gerald and Tan, Ava G. (Ava G.) and Gopinath, Bamini and Merriam, John C. and Smith, R. Theodore and Khan, Jane C. (Jane) and Shahid, Humma and Holz, J.-B. and Moore, Anthony T. (Anthony) and McGrath, J. Allie and Laux, Reneé and Brantley, Milam A. (Milam) and Agarwal, Anita and Ersoy, Lebriz and Caramoy, Albert and de Jong, Eiko K. and Langmann, Thomas and Saksens, Nicole T. M. (Nicole T.) and Hoyng, Carel B. and Cain, Melinda S. (Melinda) and Richardson, Andrea J. (Andrea) and Martin, Tammy M. (Tammy M.) and Blangero, John and Weeks, Daniel E. (Daniel) and Dhillon, Bal and van Duijn, Cornelia M. and Doheny, Kimberly F. (Kimberly) and Romm, Jane and Klaver, Caroline C. W. (Caroline) and Hayward, Caroline and Gorin, Michael B. (Michael B.) and Klein, Michael L. (Michael) and den Hollander, Anneke I. and Baird, Paul N. (Paul) and Fauser, Sascha and Yates, John R. W. and Duijn, C. M. (Cock) van and Wang, Jie Jin and Allikmets, Rando and Schaumberg, Debra A. (Debra) and Klein, Barbara E. K. (Barbara) and Hagstrom, Stephanie A. (Stephanie) and Chowers, Itay and Lotery, Andrew J. (Andrew) and Jong, E. K. (Eiko Kde) and Zhang, Kang and Léveillard, Thierry and Brilliant, Murray H. (Murray H.) and Chowers, Y. (Yehuda) and Hewitt, Alex W. and Swaroop, Anand and Hollander, A. I. (Anneke) den and Chew, Emily Y. (Emily Y.) and Pericak-Vance, Margaret A. (Margaret) and Stambolian, Dwight and DeAngelis, Margaret M. (Margaret) and Hewit, A. W. (Alex) and Haines, Jonathan L. (Jonathan) and Iyengar, Sudha K. (Sudha) and Weber, Bernhard H. F. (Bernhard) and Abecasis, Gonçalo R. (Gonçalo) and Heid, Iris M. (Iris)},
  doi = {10.1038/ng.3448},
  journal = {Nature Genetics},
  month = {dec},
  pages = {134-143},
  title = {A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants},
  url = {http://www.nature.com/articles/ng.3448.pdf},
  volume = {48},
  year = {2015}
}

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