A1 Refereed original research article in a scientific journal
Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries
Authors: Gharahkhani Puya, Jorgenson Eric, Hysi Pirro, Khawaja Anthony P., Pendergrass Sarah, Han Xikun, Ong Jue Sheng, Hewitt Alex W., Segrè Ayellet V., Rouhana John M., Hamel Andrew R., Igo Jr Robert P., Choquet Helene, Qassim Ayub, Josyula Navya S., Bailey Jessica N. Cooke, Bonnemaijer Pieter W. M., Iglesias Adriana, Siggs Owen M., Young Terri L., Vitart Veronique, Thiadens Alberta A. H. J., Karjalainen Juha, Uebe Steffen, Melles Ronald B., Nair K. Saidas, Luben Robert, Simcoe Mark, Amersinghe Nishani, Cree Angela J., Hohn Rene, Poplawski Alicia, Chen Li Jia, Rong Shi-Song, Aung Tin, Eranga Nishanthie Vithana, NEIGHBORHOOD consortium, ANZRAG consortium, Biobank Japan project, UK Biobank Eye and Vision Consortium, GIGA study group, 23 and Me Research Team, Tamiya Gen, Shiga Yukihiro, Yamamoto Masayuki, Nakazawa Toru, Currant Hannah, Birney Ewan, Wang Xin, Auton Adam, Lupton Michelle K., Martin Nicholas G., Ashaye Adeyinka, Olawoye Olusola, Williams Susan E., Akafo Stephen, Ramsay Michele, Hashimoto Kazuki, Kamatani Yoichiro, Akiyama Masato, Momozawa Yukihide, Foster Paul J., Khaw Peng T., Morgan James E., Strouthidis Nicholas G., Kraft Peter, Kang Jae H., Pang Chi Pui, Pasutto Francesca, Mitchell Paul, Lotery Andrew J., Palotie Aarno, van Duijn Cornelia, Haines Jonathan L., Hammond Chris, Pasquale Louis R., Klaver Caroline C. W., Hauser Michael, Khor Chiea Chuen, Mackey David A., Kubo Michiaki, Cheng Ching-Yu, Craig Jamie E., MacGregor Stuart, Wiggs Janey L.; FinnGen Study
Publisher: NATURE RESEARCH
Publication year: 2021
Journal: Nature Communications
Journal name in source: NATURE COMMUNICATIONS
Journal acronym: NAT COMMUN
Article number: 1258
Volume: 12
Issue: 1
Number of pages: 16
ISSN: 2041-1723
eISSN: 2041-1723
DOI: https://doi.org/10.1038/s41467-020-20851-4
Self-archived copy’s web address: https://research.utu.fi/converis/portal/detail/Publication/54509580
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. Primary open-angle glaucoma (POAG) is highly heritable, yet not well understood from a genetic perspective. Here, the authors perform a meta-analysis of genome-wide association studies in 34,179 POAG cases, identifying 44 previously unreported risk loci and mapping effects across multiple ethnicities.
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