Seven new loci associated with age-related macular degeneration

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

doi:10.1038/ng.2578

Seven new loci associated with age-related macular degeneration

Lars G. Fritsche
, Wei Chen
, Matthew Schu
, Brian L. Yaspan
, Yi Yu
, Gudmar Thorleifsson
, Donald J. Zack
, Satoshi Arakawa
, Valentina Cipriani
, Stephan Ripke
, Robert P. Igo
, Gabriëlle H.S. Buitendijk
, Xueling Sim
, Daniel E. Weeks
, Robyn H. Guymer
, Joanna E. Merriam
, Peter J. Francis
, Gregory Hannum
, Anita Agarwal
, Ana Maria Armbrecht

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

Department of Ophthalmology

University of Regensburg
University of Michigan, Ann Arbor
University of Pittsburgh
Boston University
Vanderbilt University
Tufts-New England Medical Center
deCODE genetics
Johns Hopkins University
Institut de la Vision
Center for Genomic Medicine
Moorfields Eye Hospital NHS Foundation Trust
University College London
Massachusetts General Hospital
The Broad Institute of MIT and Harvard
Case Western Reserve University
Erasmus University Rotterdam
National University of Singapore
University of Melbourne
Columbia University
Oregon Health and Science University
University of California at San Diego
University of Edinburgh
Institut national de la santé et de la recherche médicale
CNRS
Singapore National Eye Center
University of Manchester
Manchester University NHS Foundation Trust
National Institutes of Health
University of Pennsylvania
University of Miami
Duke-NUS Medical School
Hadassah University Medical Centre
University of Cambridge
University of Oregon
University of Ioannina
Landspitali University Hospital
Vision Research Foundation India
Helmholtz Zentrum München - German Research Center for Environmental Health
Cleveland Clinic Foundation
University of Liverpool
Ludwig Maximilian University of Munich
University of Bonn
Stanford University
Kyushu University
CEPH-Fondation Jean Dausset
Duke University
University of Würzburg
Royal Perth Hospital
University of Western Australia
Harvard University
Massachusetts Eye and Ear
University of Wisconsin-Madison
University of Southampton
Technical University of Munich
The University of Sydney
University of Utah
The University of Tokyo
RIKEN
Cornell University
University of California at Los Angeles
Seoul National University
Louis Stokes Cleveland VA Medical Center
Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC)
Mayo Clinic Rochester, MN
Rothschild Foundation Hospital
Académie des Sciences-Institut de France
Brigham and Women’s Hospital
Cambridge University Hospitals NHS Foundation Trust
University of Iceland
Queen's University Belfast
Cincinnati Children's Hospital Medical Center
CHI de Créteil
University of Thessaly
Centre National de Génotypage
Sichuan University
Tufts University

Research output: Contribution to journal › Article › peer-review

718 Scopus citations

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 × 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 × 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.

Original language	English
Pages (from-to)	433-439
Number of pages	7
Journal	Nature Genetics
Volume	45
Issue number	4
DOIs	https://doi.org/10.1038/ng.2578
State	Published - Apr 2013

Access to Document

10.1038/ng.2578

Cite this

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., ... Abecasis, G. R. (2013). Seven new loci associated with age-related macular degeneration. Nature Genetics, 45(4), 433-439. https://doi.org/10.1038/ng.2578

@article{80751e6fa0e54a6697885aafc535cbe0,

title = "Seven new loci associated with age-related macular degeneration",

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 {\texttimes} 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 {\texttimes} 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.",

author = "Fritsche, \{Lars G.\} and Wei Chen and Matthew Schu and Yaspan, \{Brian L.\} and Yi Yu and Gudmar Thorleifsson and Zack, \{Donald J.\} and Satoshi Arakawa and Valentina Cipriani and Stephan Ripke and Igo, \{Robert P.\} and Buitendijk, \{Gabri{\"e}lle H.S.\} and Xueling Sim and Weeks, \{Daniel E.\} and Guymer, \{Robyn H.\} and Merriam, \{Joanna E.\} and Francis, \{Peter J.\} and Gregory Hannum and Anita Agarwal and Armbrecht, \{Ana Maria\} and Isabelle Audo and Tin Aung and Barile, \{Gaetano R.\} and Mustapha Benchaboune and Bird, \{Alan C.\} and Bishop, \{Paul N.\} and Branham, \{Kari E.\} and Matthew Brooks and Brucker, \{Alexander J.\} and Cade, \{William H.\} and Cain, \{Melinda S.\} and Campochiaro, \{Peter A.\} and Chan, \{Chi Chao\} and Cheng, \{Ching Yu\} and Chew, \{Emily Y.\} and Chin, \{Kimberly A.\} and Itay Chowers and Clayton, \{David G.\} and Radu Cojocaru and Conley, \{Yvette P.\} and Cornes, \{Belinda K.\} and Daly, \{Mark J.\} and Baljean Dhillon and Edwards, \{Albert O.\} and Evangelos Evangelou and Jesen Fagerness and Ferreyra, \{Henry A.\} and Friedman, \{James S.\} and Asbjorg Geirsdottir and George, \{Ronnie J.\} and Christian Gieger and Neel Gupta and Hagstrom, \{Stephanie A.\} and Harding, \{Simon P.\} and Christos Haritoglou and Heckenlively, \{John R.\} and Holz, \{Frank G.\} and Guy Hughes and Ioannidis, \{John P.A.\} and Tatsuro Ishibashi and Peronne Joseph and Gyungah Jun and Yoichiro Kamatani and Nicholas Katsanis and \{N Keilhauer\}, Claudia and Khan, \{Jane C.\} and Kim, \{Ivana K.\} and Yutaka Kiyohara and Klein, \{Barbara E.K.\} and Ronald Klein and Kovach, \{Jaclyn L.\} and Igor Kozak and Lee, \{Clara J.\} and Lee, \{Kristine E.\} and Peter Lichtner and Lotery, \{Andrew J.\} and Thomas Meitinger and Paul Mitchell and Saddek Mohand-Sa{\"i}d and Moore, \{Anthony T.\} and Morgan, \{Denise J.\} and Morrison, \{Margaux A.\} and Myers, \{Chelsea E.\} and Naj, \{Adam C.\} and Yusuke Nakamura and Yukinori Okada and Anton Orlin and Ortube, \{M. Carolina\} and Othman, \{Mohammad I.\} and Chris Pappas and Park, \{Kyu Hyung\} and Pauer, \{Gayle J.T.\} and Peachey, \{Neal S.\} and Olivier Poch and Priya, \{Rinki Ratna\} and Robyn Reynolds and Richardson, \{Andrea J.\} and Raymond Ripp and Guenther Rudolph and Euijung Ryu and Sahel, \{Jos{\'e} Alain\} and Schaumberg, \{Debra A.\} and Scholl, \{Hendrik P.N.\} and Schwartz, \{Stephen G.\} and Scott, \{William K.\} and Humma Shahid and Haraldur Sigurdsson and Giuliana Silvestri and Sivakumaran, \{Theru A.\} and Smith, \{R. Theodore\} and Lucia Sobrin and Souied, \{Eric H.\} and Stambolian, \{Dwight E.\} and Hreinn Stefansson and Sturgill-Short, \{Gwen M.\} and Atsushi Takahashi and Nirubol Tosakulwong and Truitt, \{Barbara J.\} and Tsironi, \{Evangelia E.\} and Uitterlinden, \{Andr{\'e} G.\} and \{Van Duijn\}, \{Cornelia M.\} and Lingam Vijaya 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 Diana Zelenika and Ming Zhang and Ling Zhao and Kang Zhang and Klein, \{Michael L.\} and Hageman, \{Gregory S.\} and Lathrop, \{G. Mark\} and Kari Stefansson and Rando Allikmets 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 Anand Swaroop and Weber, \{Bernhard H.F.\} and Michiaki Kubo and Deangelis, \{Margaret M.\} and Thierry L{\'e}veillard and Unnur Thorsteinsdottir and Haines, \{Jonathan L.\} and Farrer, \{Lindsay A.\} and Heid, \{Iris M.\} and Abecasis, \{Gon{\c c}alo R.\}",

year = "2013",

month = apr,

doi = "10.1038/ng.2578",

language = "English",

volume = "45",

pages = "433--439",

journal = "Nature Genetics",

issn = "1061-4036",

publisher = "Nature Research",

number = "4",

}

Fritsche, LG, Chen, W, Schu, M, Yaspan, BL, Yu, Y, Thorleifsson, G, Zack, DJ, Arakawa, S, Cipriani, V, Ripke, S, Igo, RP, Buitendijk, GHS, Sim, X, Weeks, DE, Guymer, RH, Merriam, JE, Francis, PJ, Hannum, G, Agarwal, A, Armbrecht, AM, Audo, I, Aung, T, Barile, GR, Benchaboune, M, Bird, AC, Bishop, PN, Branham, KE, Brooks, M, Brucker, AJ, Cade, WH, Cain, MS, Campochiaro, PA, Chan, CC, Cheng, CY, Chew, EY, Chin, KA, Chowers, I, Clayton, DG, Cojocaru, R, Conley, YP, Cornes, BK, Daly, MJ, Dhillon, B, Edwards, AO, Evangelou, E, Fagerness, J, Ferreyra, HA, Friedman, JS, Geirsdottir, A, George, RJ, Gieger, C, Gupta, N, Hagstrom, SA, Harding, SP, Haritoglou, C, Heckenlively, JR, Holz, FG, Hughes, G, Ioannidis, JPA, Ishibashi, T, Joseph, P, Jun, G, Kamatani, Y, Katsanis, N, N Keilhauer, C, Khan, JC, Kim, IK, Kiyohara, Y, Klein, BEK, Klein, R, Kovach, JL, Kozak, I, Lee, CJ, Lee, KE, Lichtner, P, Lotery, AJ, Meitinger, T, Mitchell, P, Mohand-Saïd, S, Moore, AT, Morgan, DJ, Morrison, MA, Myers, CE, Naj, AC, Nakamura, Y, Okada, Y, Orlin, A, Ortube, MC, Othman, MI, Pappas, C, Park, KH, Pauer, GJT, Peachey, NS, Poch, O, Priya, RR, Reynolds, R, Richardson, AJ, Ripp, R, Rudolph, G, Ryu, E, Sahel, JA, Schaumberg, DA, Scholl, HPN, Schwartz, SG, Scott, WK, Shahid, H, Sigurdsson, H, Silvestri, G, Sivakumaran, TA, Smith, RT, Sobrin, L, Souied, EH, Stambolian, DE, Stefansson, H, Sturgill-Short, GM, Takahashi, A, Tosakulwong, N, Truitt, BJ, Tsironi, EE, Uitterlinden, AG, Van Duijn, CM, Vijaya, L, Vingerling, JR, Vithana, EN, Webster, AR, Wichmann, HE, Winkler, TW, Wong, TY, Wright, AF, Zelenika, D, Zhang, M, Zhao, L, Zhang, K, Klein, ML, Hageman, GS, Lathrop, GM, Stefansson, K, Allikmets, R, Baird, PN, Gorin, MB, Wang, JJ, Klaver, CCW, Seddon, JM, Pericak-Vance, MA, Iyengar, SK, Yates, JRW, Swaroop, A, Weber, BHF, Kubo, M, Deangelis, MM, Léveillard, T, Thorsteinsdottir, U, Haines, JL, Farrer, LA, Heid, IM & Abecasis, GR 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

TY - JOUR

T1 - Seven new loci associated with age-related macular degeneration

AU - Fritsche, Lars G.

AU - Chen, Wei

AU - Schu, Matthew

AU - Yaspan, Brian L.

AU - Yu, Yi

AU - Thorleifsson, Gudmar

AU - Zack, Donald J.

AU - Arakawa, Satoshi

AU - Cipriani, Valentina

AU - Ripke, Stephan

AU - Igo, Robert P.

AU - Buitendijk, Gabriëlle H.S.

AU - Sim, Xueling

AU - Weeks, Daniel E.

AU - Guymer, Robyn H.

AU - Merriam, Joanna E.

AU - Francis, Peter J.

AU - Hannum, Gregory

AU - Agarwal, Anita

AU - Armbrecht, Ana Maria

AU - Audo, Isabelle

AU - Aung, Tin

AU - Barile, Gaetano R.

AU - Benchaboune, Mustapha

AU - Bird, Alan C.

AU - Bishop, Paul N.

AU - Branham, Kari E.

AU - Brooks, Matthew

AU - Brucker, Alexander J.

AU - Cade, William H.

AU - Cain, Melinda S.

AU - Campochiaro, Peter A.

AU - Chan, Chi Chao

AU - Cheng, Ching Yu

AU - Chew, Emily Y.

AU - Chin, Kimberly A.

AU - Chowers, Itay

AU - Clayton, David G.

AU - Cojocaru, Radu

AU - Conley, Yvette P.

AU - Cornes, Belinda K.

AU - Daly, Mark J.

AU - Dhillon, Baljean

AU - Edwards, Albert O.

AU - Evangelou, Evangelos

AU - Fagerness, Jesen

AU - Ferreyra, Henry A.

AU - Friedman, James S.

AU - Geirsdottir, Asbjorg

AU - George, Ronnie J.

AU - Gieger, Christian

AU - Gupta, Neel

AU - Hagstrom, Stephanie A.

AU - Harding, Simon P.

AU - Haritoglou, Christos

AU - Heckenlively, John R.

AU - Holz, Frank G.

AU - Hughes, Guy

AU - Ioannidis, John P.A.

AU - Ishibashi, Tatsuro

AU - Joseph, Peronne

AU - Jun, Gyungah

AU - Kamatani, Yoichiro

AU - Katsanis, Nicholas

AU - N Keilhauer, Claudia

AU - Khan, Jane C.

AU - Kim, Ivana K.

AU - Kiyohara, Yutaka

AU - Klein, Barbara E.K.

AU - Klein, Ronald

AU - Kovach, Jaclyn L.

AU - Kozak, Igor

AU - Lee, Clara J.

AU - Lee, Kristine E.

AU - Lichtner, Peter

AU - Lotery, Andrew J.

AU - Meitinger, Thomas

AU - Mitchell, Paul

AU - Mohand-Saïd, Saddek

AU - Moore, Anthony T.

AU - Morgan, Denise J.

AU - Morrison, Margaux A.

AU - Myers, Chelsea E.

AU - Naj, Adam C.

AU - Nakamura, Yusuke

AU - Okada, Yukinori

AU - Orlin, Anton

AU - Ortube, M. Carolina

AU - Othman, Mohammad I.

AU - Pappas, Chris

AU - Park, Kyu Hyung

AU - Pauer, Gayle J.T.

AU - Peachey, Neal S.

AU - Poch, Olivier

AU - Priya, Rinki Ratna

AU - Reynolds, Robyn

AU - Richardson, Andrea J.

AU - Ripp, Raymond

AU - Rudolph, Guenther

AU - Ryu, Euijung

AU - Sahel, José Alain

AU - Schaumberg, Debra A.

AU - Scholl, Hendrik P.N.

AU - Schwartz, Stephen G.

AU - Scott, William K.

AU - Shahid, Humma

AU - Sigurdsson, Haraldur

AU - Silvestri, Giuliana

AU - Sivakumaran, Theru A.

AU - Smith, R. Theodore

AU - Sobrin, Lucia

AU - Souied, Eric H.

AU - Stambolian, Dwight E.

AU - Stefansson, Hreinn

AU - Sturgill-Short, Gwen M.

AU - Takahashi, Atsushi

AU - Tosakulwong, Nirubol

AU - Truitt, Barbara J.

AU - Tsironi, Evangelia E.

AU - Uitterlinden, André G.

AU - Van Duijn, Cornelia M.

AU - Vijaya, Lingam

AU - Vingerling, Johannes R.

AU - Vithana, Eranga N.

AU - Webster, Andrew R.

AU - Wichmann, H. Erich

AU - Winkler, Thomas W.

AU - Wong, Tien Y.

AU - Wright, Alan F.

AU - Zelenika, Diana

AU - Zhang, Ming

AU - Zhao, Ling

AU - Zhang, Kang

AU - Klein, Michael L.

AU - Hageman, Gregory S.

AU - Lathrop, G. Mark

AU - Stefansson, Kari

AU - Allikmets, Rando

AU - Baird, Paul N.

AU - Gorin, Michael B.

AU - Wang, Jie Jin

AU - Klaver, Caroline C.W.

AU - Seddon, Johanna M.

AU - Pericak-Vance, Margaret A.

AU - Iyengar, Sudha K.

AU - Yates, John R.W.

AU - Swaroop, Anand

AU - Weber, Bernhard H.F.

AU - Kubo, Michiaki

AU - Deangelis, Margaret M.

AU - Léveillard, Thierry

AU - Thorsteinsdottir, Unnur

AU - Haines, Jonathan L.

AU - Farrer, Lindsay A.

AU - Heid, Iris M.

AU - Abecasis, Gonçalo R.

PY - 2013/4

Y1 - 2013/4

N2 - 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 × 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 × 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.

AB - 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 × 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 × 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.

UR - https://www.scopus.com/pages/publications/84875706378

U2 - 10.1038/ng.2578

DO - 10.1038/ng.2578

M3 - Article

C2 - 23455636

AN - SCOPUS:84875706378

SN - 1061-4036

VL - 45

SP - 433

EP - 439

JO - Nature Genetics

JF - Nature Genetics

IS - 4

ER -

Seven new loci associated with age-related macular degeneration

Abstract

Access to Document

Other files and links

Fingerprint

Cite this