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 (US) |
|---|---|
| Pages (from-to) | 433-439 |
| Number of pages | 7 |
| Journal | Nature genetics |
| Volume | 45 |
| Issue number | 4 |
| DOIs | |
| State | Published - Apr 2013 |
ASJC Scopus subject areas
- Genetics
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Seven new loci associated with age-related macular degeneration. / 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; George, Ronnie J.; Gieger, Christian; Gupta, Neel; Hagstrom, Stephanie A.; Harding, Simon P.; Haritoglou, Christos; Heckenlively, John R.; Holz, Frank G.; Hughes, Guy; Ioannidis, John P.A.; Ishibashi, Tatsuro; Joseph, Peronne; Jun, Gyungah; Kamatani, Yoichiro; Katsanis, Nicholas; N Keilhauer, Claudia; Khan, Jane C.; Kim, Ivana K.; Kiyohara, Yutaka; Klein, Barbara E.K.; Klein, Ronald; Kovach, Jaclyn L.; Kozak, Igor; Lee, Clara J.; Lee, Kristine E.; Lichtner, Peter; Lotery, Andrew J.; Meitinger, Thomas; Mitchell, Paul; Mohand-Saïd, Saddek; Moore, Anthony T.; Morgan, Denise J.; Morrison, Margaux A.; Myers, Chelsea E.; Naj, Adam C.; Nakamura, Yusuke; Okada, Yukinori; Orlin, Anton; Ortube, M. Carolina; Othman, Mohammad I.; Pappas, Chris; Park, Kyu Hyung; Pauer, Gayle J.T.; Peachey, Neal S.; Poch, Olivier; Priya, Rinki Ratna; Reynolds, Robyn; Richardson, Andrea J.; Ripp, Raymond; Rudolph, Guenther; Ryu, Euijung; Sahel, José Alain; Schaumberg, Debra A.; Scholl, Hendrik P.N.; Schwartz, Stephen G.; Scott, William K.; Shahid, Humma; Sigurdsson, Haraldur; Silvestri, Giuliana; Sivakumaran, Theru A.; Smith, R. Theodore; Sobrin, Lucia; Souied, Eric H.; Stambolian, Dwight E.; Stefansson, Hreinn; Sturgill-Short, Gwen M.; Takahashi, Atsushi; Tosakulwong, Nirubol; Truitt, Barbara J.; Tsironi, Evangelia E.; Uitterlinden, André G.; Van Duijn, Cornelia M.; Vijaya, Lingam; Vingerling, Johannes R.; Vithana, Eranga N.; Webster, Andrew R.; Wichmann, H. Erich; Winkler, Thomas W.; Wong, Tien Y.; Wright, Alan F.; Zelenika, Diana; Zhang, Ming; Zhao, Ling; Zhang, Kang; Klein, Michael L.; Hageman, Gregory S.; Lathrop, G. Mark; Stefansson, Kari; Allikmets, Rando; Baird, Paul N.; Gorin, Michael B.; Wang, Jie Jin; Klaver, Caroline C.W.; Seddon, Johanna M.; Pericak-Vance, Margaret A.; Iyengar, Sudha K.; Yates, John R.W.; Swaroop, Anand; Weber, Bernhard H.F.; Kubo, Michiaki; Deangelis, Margaret M.; Léveillard, Thierry; Thorsteinsdottir, Unnur; Haines, Jonathan L.; Farrer, Lindsay A.; Heid, Iris M.; Abecasis, Gonçalo R.
In: Nature genetics, Vol. 45, No. 4, 04.2013, p. 433-439.Research output: Contribution to journal › Article › peer-review
}
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 - http://www.scopus.com/inward/record.url?scp=84875706378&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84875706378&partnerID=8YFLogxK
U2 - 10.1038/ng.2578
DO - 10.1038/ng.2578
M3 - Article
C2 - 23455636
AN - SCOPUS:84875706378
VL - 45
SP - 433
EP - 439
JO - Nature Genetics
JF - Nature Genetics
SN - 1061-4036
IS - 4
ER -