| Literature DB >> 33627673 |
Puya Gharahkhani1, Eric Jorgenson2, Pirro Hysi3, Anthony P Khawaja4,5, Sarah Pendergrass6, Xikun Han7, Jue Sheng Ong7, Alex W Hewitt8,9, Ayellet V Segrè10, John M Rouhana10, Andrew R Hamel10, Robert P Igo11, Helene Choquet2, Ayub Qassim12, Navya S Josyula13, Jessica N Cooke Bailey11,14, Pieter W M Bonnemaijer15,16,17, Adriana Iglesias15,16,18, Owen M Siggs12, Terri L Young19, Veronique Vitart20, Alberta A H J Thiadens15,16, Juha Karjalainen21,22,23, Steffen Uebe24, Ronald B Melles25, K Saidas Nair26, Robert Luben5, Mark Simcoe3,27,28, Nishani Amersinghe29, Angela J Cree30, Rene Hohn31,32, Alicia Poplawski33, Li Jia Chen34, Shi-Song Rong10,34, Tin Aung35,36,37, Eranga Nishanthie Vithana35,38, Gen Tamiya39,40, Yukihiro Shiga41, Masayuki Yamamoto39, Toru Nakazawa41,42,43,44, Hannah Currant45, Ewan Birney45, Xin Wang46, Adam Auton46, Michelle K Lupton7, Nicholas G Martin7, Adeyinka Ashaye47, Olusola Olawoye47, Susan E Williams48, Stephen Akafo49, Michele Ramsay50, Kazuki Hashimoto41, Yoichiro Kamatani51,52, Masato Akiyama51,53, Yukihide Momozawa54, Paul J Foster55,56, Peng T Khaw55,56, James E Morgan57, Nicholas G Strouthidis55,56, Peter Kraft58, Jae H Kang59, Chi Pui Pang34, Francesca Pasutto24, Paul Mitchell60, Andrew J Lotery29,30, Aarno Palotie61,62,63, Cornelia van Duijn16,64, Jonathan L Haines11,14, Chris Hammond3, Louis R Pasquale65, Caroline C W Klaver15,16,66,67, Michael Hauser68,69,70,71, Chiea Chuen Khor72, David A Mackey8,9,73, Michiaki Kubo74, Ching-Yu Cheng35,36,37, Jamie E Craig75, Stuart MacGregor7, Janey L Wiggs10.
Abstract
Primary open-angle glaucoma (POAG), is a heritable common cause of blindness world-wide. To identify risk loci, we conduct a large multi-ethnic meta-analysis of genome-wide association studies on a total of 34,179 cases and 349,321 controls, identifying 44 previously unreported risk loci and confirming 83 loci that were previously known. The majority of loci have broadly consistent effects across European, Asian and African ancestries. Cross-ancestry data improve fine-mapping of causal variants for several loci. Integration of multiple lines of genetic evidence support the functional relevance of the identified POAG risk loci and highlight potential contributions of several genes to POAG pathogenesis, including SVEP1, RERE, VCAM1, ZNF638, CLIC5, SLC2A12, YAP1, MXRA5, and SMAD6. Several drug compounds targeting POAG risk genes may be potential glaucoma therapeutic candidates.Entities:
Mesh：
Year: 2021 PMID： 33627673 PMCID： PMC7904932 DOI： 10.1038/s41467-020-20851-4
Source DB: PubMed Journal: Nat Commun ISSN： 2041-1723 Impact factor: 14.919