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Seven new loci associated with age-related macular degeneration

Seven new loci associated with age-related macular degeneration
Seven new loci associated with age-related macular degeneration
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.
1061-4036
433-439
Fritsche, Lars G.
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Chen, Wei
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Schu, Matthew
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Yaspan, Brian L.
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Yu, Yi
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Thorleifsson, Gudmar
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Zack, Donald J.
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Arakawa, Satoshi
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Cipriani, Valentina
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Ripke, Stephan
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Igo, Robert P.
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Sim, Xueling
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Weeks, Daniel E.
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Barile, Gaetano R.
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Bird, Alan C.
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Brooks, Matthew
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Cain, Melinda S.
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Chan, Chi-Chao
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Cheng, Ching-Yu
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Chew, Emily Y.
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Chin, Kimberly A.
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Chowers, Itay
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Cojocaru, Radu
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Cornes, Belinda K.
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Daly, Mark J.
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Dhillon, Baljean
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Edwards, Albert O.
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Evangelou, Evangelos
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Fagerness, Jesen
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Ferreyra, Henry A.
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Friedman, James S.
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Geirsdottir, Asbjorg
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Lotery, Andrew J.
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The AMD Gene Consortium
Fritsche, Lars G.
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Chen, Wei
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Schu, Matthew
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Yaspan, Brian L.
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Yu, Yi
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Thorleifsson, Gudmar
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Zack, Donald J.
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Arakawa, Satoshi
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Cipriani, Valentina
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Ripke, Stephan
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Igo, Robert P.
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Buitendijk, Gabriëlle H.S.
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Sim, Xueling
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Weeks, Daniel E.
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Guymer, Robyn H.
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Merriam, Joanna E.
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Francis, Peter J.
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Hannum, Gregory
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Agarwal, Anita
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Armbrecht, Ana Maria
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Audo, Isabelle
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Aung, Tin
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Barile, Gaetano R.
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Benchaboune, Mustapha
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Bird, Alan C.
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Bishop, Paul N.
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Branham, Kari E.
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Brooks, Matthew
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Brucker, Alexander J.
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Cade, William H.
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Cain, Melinda S.
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Campochiaro, Peter A.
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Chan, Chi-Chao
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Cheng, Ching-Yu
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Chew, Emily Y.
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Chin, Kimberly A.
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Chowers, Itay
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Clayton, David G.
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Cojocaru, Radu
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Conley, Yvette P.
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Cornes, Belinda K.
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Daly, Mark J.
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Dhillon, Baljean
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Edwards, Albert O.
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Evangelou, Evangelos
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Fagerness, Jesen
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Ferreyra, Henry A.
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Friedman, James S.
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Geirsdottir, Asbjorg
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Lotery, Andrew J.
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Fritsche, Lars G., Chen, Wei, Schu, Matthew, Yaspan, Brian L., Yu, Yi, Thorleifsson, Gudmar, Zack, Donald J., Arakawa, Satoshi, Cipriani, Valentina, Ripke, Stephan, Igo, Robert P., Buitendijk, Gabriëlle H.S., Sim, Xueling, Weeks, Daniel E., Guymer, Robyn H., Merriam, Joanna E., Francis, Peter J., Hannum, Gregory, Agarwal, Anita, Armbrecht, Ana Maria, Audo, Isabelle, Aung, Tin, Barile, Gaetano R., Benchaboune, Mustapha, Bird, Alan C., Bishop, Paul N., Branham, Kari E., Brooks, Matthew, Brucker, Alexander J., Cade, William H., Cain, Melinda S., Campochiaro, Peter A., Chan, Chi-Chao, Cheng, Ching-Yu, Chew, Emily Y., Chin, Kimberly A., Chowers, Itay, Clayton, David G., Cojocaru, Radu, Conley, Yvette P., Cornes, Belinda K., Daly, Mark J., Dhillon, Baljean, Edwards, Albert O., Evangelou, Evangelos, Fagerness, Jesen, Ferreyra, Henry A., Friedman, James S., Geirsdottir, Asbjorg and Lotery, Andrew J. , The AMD Gene Consortium (2013) Seven new loci associated with age-related macular degeneration. Nature Genetics, 45 (4), 433-439. (doi:10.1038/ng.2578). (PMID:23455636)

Record type: Article

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.

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Published date: 3 March 2013
Organisations: Faculty of Medicine

Identifiers

Local EPrints ID: 352031
URI: http://eprints.soton.ac.uk/id/eprint/352031
ISSN: 1061-4036
PURE UUID: fd93d47f-034c-462b-8c0e-b01be05d9689
ORCID for Andrew J. Lotery: ORCID iD orcid.org/0000-0001-5541-4305

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Date deposited: 01 May 2013 12:55
Last modified: 17 Dec 2019 01:49

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Contributors

Author: Lars G. Fritsche
Author: Wei Chen
Author: Matthew Schu
Author: Brian L. Yaspan
Author: Yi Yu
Author: Gudmar Thorleifsson
Author: Donald J. Zack
Author: Satoshi Arakawa
Author: Valentina Cipriani
Author: Stephan Ripke
Author: Robert P. Igo
Author: Gabriëlle H.S. Buitendijk
Author: Xueling Sim
Author: Daniel E. Weeks
Author: Robyn H. Guymer
Author: Joanna E. Merriam
Author: Peter J. Francis
Author: Gregory Hannum
Author: Anita Agarwal
Author: Ana Maria Armbrecht
Author: Isabelle Audo
Author: Tin Aung
Author: Gaetano R. Barile
Author: Mustapha Benchaboune
Author: Alan C. Bird
Author: Paul N. Bishop
Author: Kari E. Branham
Author: Matthew Brooks
Author: Alexander J. Brucker
Author: William H. Cade
Author: Melinda S. Cain
Author: Peter A. Campochiaro
Author: Chi-Chao Chan
Author: Ching-Yu Cheng
Author: Emily Y. Chew
Author: Kimberly A. Chin
Author: Itay Chowers
Author: David G. Clayton
Author: Radu Cojocaru
Author: Yvette P. Conley
Author: Belinda K. Cornes
Author: Mark J. Daly
Author: Baljean Dhillon
Author: Albert O. Edwards
Author: Evangelos Evangelou
Author: Jesen Fagerness
Author: Henry A. Ferreyra
Author: James S. Friedman
Author: Asbjorg Geirsdottir
Corporate Author: The AMD Gene Consortium

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