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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 × 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.

SUBMITTER: Fritsche LG 

PROVIDER: S-EPMC3739472 | biostudies-literature | 2013 Apr

REPOSITORIES: biostudies-literature

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Seven new loci associated with age-related macular degeneration.

Fritsche Lars G LG   Chen Wei W   Schu Matthew M   Yaspan Brian L BL   Yu Yi Y   Thorleifsson Gudmar G   Zack Donald J DJ   Arakawa Satoshi S   Cipriani Valentina V   Ripke Stephan S   Igo Robert P RP   Buitendijk Gabriëlle H S GH   Sim Xueling X   Weeks Daniel E DE   Guymer Robyn H RH   Merriam Joanna E JE   Francis Peter J PJ   Hannum Gregory G   Agarwal Anita A   Armbrecht Ana Maria AM   Audo Isabelle I   Aung Tin T   Barile Gaetano R GR   Benchaboune Mustapha M   Bird Alan C AC   Bishop Paul N PN   Branham Kari E KE   Brooks Matthew M   Brucker Alexander J AJ   Cade William H WH   Cain Melinda S MS   Campochiaro Peter A PA   Chan Chi-Chao CC   Cheng Ching-Yu CY   Chew Emily Y EY   Chin Kimberly A KA   Chowers Itay I   Clayton David G DG   Cojocaru Radu R   Conley Yvette P YP   Cornes Belinda K BK   Daly Mark J MJ   Dhillon Baljean B   Edwards Albert O AO   Evangelou Evangelos E   Fagerness Jesen J   Ferreyra Henry A HA   Friedman James S JS   Geirsdottir Asbjorg A   George Ronnie J RJ   Gieger Christian C   Gupta Neel N   Hagstrom Stephanie A SA   Harding Simon P SP   Haritoglou Christos C   Heckenlively John R JR   Holz Frank G FG   Hughes Guy G   Ioannidis John P A JP   Ishibashi Tatsuro T   Joseph Peronne P   Jun Gyungah G   Kamatani Yoichiro Y   Katsanis Nicholas N   N Keilhauer Claudia C   Khan Jane C JC   Kim Ivana K IK   Kiyohara Yutaka Y   Klein Barbara E K BE   Klein Ronald R   Kovach Jaclyn L JL   Kozak Igor I   Lee Clara J CJ   Lee Kristine E KE   Lichtner Peter P   Lotery Andrew J AJ   Meitinger Thomas T   Mitchell Paul P   Mohand-Saïd Saddek S   Moore Anthony T AT   Morgan Denise J DJ   Morrison Margaux A MA   Myers Chelsea E CE   Naj Adam C AC   Nakamura Yusuke Y   Okada Yukinori Y   Orlin Anton A   Ortube M Carolina MC   Othman Mohammad I MI   Pappas Chris C   Park Kyu Hyung KH   Pauer Gayle J T GJ   Peachey Neal S NS   Poch Olivier O   Priya Rinki Ratna RR   Reynolds Robyn R   Richardson Andrea J AJ   Ripp Raymond R   Rudolph Guenther G   Ryu Euijung E   Sahel José-Alain JA   Schaumberg Debra A DA   Scholl Hendrik P N HP   Schwartz Stephen G SG   Scott William K WK   Shahid Humma H   Sigurdsson Haraldur H   Silvestri Giuliana G   Sivakumaran Theru A TA   Smith R Theodore RT   Sobrin Lucia L   Souied Eric H EH   Stambolian Dwight E DE   Stefansson Hreinn H   Sturgill-Short Gwen M GM   Takahashi Atsushi A   Tosakulwong Nirubol N   Truitt Barbara J BJ   Tsironi Evangelia E EE   Uitterlinden André G AG   van Duijn Cornelia M CM   Vijaya Lingam L   Vingerling Johannes R JR   Vithana Eranga N EN   Webster Andrew R AR   Wichmann H-Erich HE   Winkler Thomas W TW   Wong Tien Y TY   Wright Alan F AF   Zelenika Diana D   Zhang Ming M   Zhao Ling L   Zhang Kang K   Klein Michael L ML   Hageman Gregory S GS   Lathrop G Mark GM   Stefansson Kari K   Allikmets Rando R   Baird Paul N PN   Gorin Michael B MB   Wang Jie Jin JJ   Klaver Caroline C W CC   Seddon Johanna M JM   Pericak-Vance Margaret A MA   Iyengar Sudha K SK   Yates John R W JR   Swaroop Anand A   Weber Bernhard H F BH   Kubo Michiaki M   Deangelis Margaret M MM   Léveillard Thierry T   Thorsteinsdottir Unnur U   Haines Jonathan L JL   Farrer Lindsay A LA   Heid Iris M IM   Abecasis Gonçalo R GR  

Nature genetics 20130303 4

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 re  ...[more]

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