Seven new loci associated with age-related macular degeneration

Autoria(s): 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; The AMD Gene Consortium
Data(s)

2013
Resumo

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.
Identificador

http://pure.qub.ac.uk/portal/en/publications/seven-new-loci-associated-with-agerelated-macular-degeneration(f224171b-c538-4f51-bd88-6bb525adc613).html

http://dx.doi.org/10.1038/ng.2578
Idioma(s)

eng
Direitos

info:eu-repo/semantics/restrictedAccess
Fonte

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 , Armbrecht , A M , Audo , I , Aung , T , Barile , G R , Benchaboune , M , Bird , A C , Bishop , P N , Branham , K E , Brooks , M , Brucker , A J , Cade , W H , Cain , M S , Campochiaro , P A , Chan , C-C , Cheng , C-Y , Chew , E Y , Chin , K A , Chowers , I , Clayton , D G , Cojocaru , R , Conley , Y P , Cornes , B K , Daly , M J , Dhillon , B , Edwards , A O , Evangelou , E , Fagerness , J , Ferreyra , H A , Friedman , J S , Geirsdottir , A , George , R J , Gieger , C , Gupta , N , Hagstrom , S A , Harding , S P , Haritoglou , C , Heckenlively , J R , Holz , F G , Hughes , G , Ioannidis , J P A , Ishibashi , T , Joseph , P , Jun , G , Kamatani , Y , Katsanis , N , N Keilhauer , C , Khan , J C , Kim , I K , Kiyohara , Y , Klein , B E K , Klein , R , Kovach , J L , Kozak , I , Lee , C J , Lee , K E , Lichtner , P , Lotery , A J , Meitinger , T , Mitchell , P , Mohand-Saïd , S , Moore , A T , Morgan , D J , Morrison , M A , Myers , C E , Naj , A C , Nakamura , Y , Okada , Y , Orlin , A , Ortube , M C , Othman , M I , Pappas , C , Park , K H , Pauer , G J T , Peachey , N S , Poch , O , Priya , R R , Reynolds , R , Richardson , A J , Ripp , R , Rudolph , G , Ryu , E , Sahel , J-A , Schaumberg , D A , Scholl , H P N , Schwartz , S G , Scott , W K , Shahid , H , Sigurdsson , H , Silvestri , G , Sivakumaran , T A , Smith , R T , Sobrin , L , Souied , E H , Stambolian , D E , Stefansson , H , Sturgill-Short , G M , Takahashi , A , Tosakulwong , N , Truitt , B J , Tsironi , E E , Uitterlinden , A G , van Duijn , C M , Vijaya , L , Vingerling , J R , Vithana , E N , Webster , A R , Wichmann , H-E , Winkler , T W , Wong , T Y , Wright , A F , Zelenika , D , Zhang , M , Zhao , L , Zhang , K , Klein , M L , Hageman , G S , Lathrop , G M , Stefansson , K , Allikmets , R , Baird , P N , Gorin , M B , Wang , J J , Klaver , C C W , Seddon , J M , Pericak-Vance , M A , Iyengar , S K , Yates , J R W , Swaroop , A , Weber , B H F , Kubo , M , Deangelis , M M , Léveillard , T , Thorsteinsdottir , U , Haines , J L , Farrer , L A , Heid , I M , Abecasis , G R & The AMD Gene Consortium 2013 , ' Seven new loci associated with age-related macular degeneration ' Nature Genetics . DOI: 10.1038/ng.2578
Tipo

article
Acesso ao item digital