A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.
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ABSTRACT:
SUBMITTER: Fritsche LG
PROVIDER: S-EPMC4745342 | biostudies-literature | 2016 Feb
REPOSITORIES: biostudies-literature
Publications
A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.
Fritsche Lars G LG Igl Wilmar W Bailey Jessica N Cooke JN Grassmann Felix F Sengupta Sebanti S Bragg-Gresham Jennifer L JL Burdon Kathryn P KP Hebbring Scott J SJ Wen Cindy C Gorski Mathias M Kim Ivana K IK Cho David D Zack Donald D Souied Eric E Scholl Hendrik P N HP Bala Elisa E Lee Kristine E KE Hunter David J DJ Sardell Rebecca J RJ Mitchell Paul P Merriam Joanna E JE Cipriani Valentina V Hoffman Joshua D JD Schick Tina T Lechanteur Yara T E YT Guymer Robyn H RH Johnson Matthew P MP Jiang Yingda Y Stanton Chloe M CM Buitendijk Gabriëlle H S GH Zhan Xiaowei X Kwong Alan M AM Boleda Alexis A Brooks Matthew M Gieser Linn L Ratnapriya Rinki R Branham Kari E KE Foerster Johanna R JR Heckenlively John R JR Othman Mohammad I MI Vote Brendan J BJ Liang Helena Hai HH Souzeau Emmanuelle E McAllister Ian L IL Isaacs Timothy T Hall Janette J Lake Stewart S Mackey David A DA Constable Ian J IJ Craig Jamie E JE Kitchner Terrie E TE Yang Zhenglin Z Su Zhiguang Z Luo Hongrong H Chen Daniel D Ouyang Hong H Flagg Ken K Lin Danni D Mao Guanping G Ferreyra Henry H Stark Klaus K von Strachwitz Claudia N CN Wolf Armin A Brandl Caroline C Rudolph Guenther G Olden Matthias M Morrison Margaux A MA Morgan Denise J DJ Schu Matthew M Ahn Jeeyun J Silvestri Giuliana G Tsironi Evangelia E EE Park Kyu Hyung KH Farrer Lindsay A LA Orlin Anton A Brucker Alexander A Li Mingyao M Curcio Christine A CA Mohand-Saïd Saddek S Sahel José-Alain JA Audo Isabelle I Benchaboune Mustapha M Cree Angela J AJ Rennie Christina A CA Goverdhan Srinivas V SV Grunin Michelle M Hagbi-Levi Shira S Campochiaro Peter P Katsanis Nicholas N Holz Frank G FG Blond Frédéric F Blanché Hélène H Deleuze Jean-François JF Igo Robert P RP Truitt Barbara B Peachey Neal S NS Meuer Stacy M SM Myers Chelsea E CE Moore Emily L EL Klein Ronald R Hauser Michael A MA Postel Eric A EA Courtenay Monique D MD Schwartz Stephen G SG Kovach Jaclyn L JL Scott William K WK Liew Gerald G Tan Ava G AG Gopinath Bamini B Merriam John C JC Smith R Theodore RT Khan Jane C JC Shahid Humma H Moore Anthony T AT McGrath J Allie JA Laux Reneé R Brantley Milam A MA Agarwal Anita A Ersoy Lebriz L Caramoy Albert A Langmann Thomas T Saksens Nicole T M NT de Jong Eiko K EK Hoyng Carel B CB Cain Melinda S MS Richardson Andrea J AJ Martin Tammy M TM Blangero John J Weeks Daniel E DE Dhillon Bal B van Duijn Cornelia M CM Doheny Kimberly F KF Romm Jane J Klaver Caroline C W CC Hayward Caroline C Gorin Michael B MB Klein Michael L ML Baird Paul N PN den Hollander Anneke I AI Fauser Sascha S Yates John R W JR Allikmets Rando R Wang Jie Jin JJ Schaumberg Debra A DA Klein Barbara E K BE Hagstrom Stephanie A SA Chowers Itay I Lotery Andrew J AJ Léveillard Thierry T Zhang Kang K Brilliant Murray H MH Hewitt Alex W AW Swaroop Anand A Chew Emily Y EY Pericak-Vance Margaret A MA DeAngelis Margaret M Stambolian Dwight D Haines Jonathan L JL Iyengar Sudha K SK Weber Bernhard H F BH Abecasis Gonçalo R GR Heid Iris M IM
Nature genetics 20151221 2
Advanced age-related macular degeneration (AMD) is the leading cause of blindness in the elderly, with limited therapeutic options. Here we report on a study of >12 million variants, including 163,714 directly genotyped, mostly rare, protein-altering variants. Analyzing 16,144 patients and 17,832 controls, we identify 52 independently associated common and rare variants (P < 5 × 10(-8)) distributed across 34 loci. Although wet and dry AMD subtypes exhibit predominantly shared genetics, we identi ...[more]