作者
Puya Gharahkhani, Eric Jorgenson, Pirro Hysi, Anthony P Khawaja, Sarah Pendergrass, Xikun Han, Jue Sheng Ong, Alex W Hewitt, Ayellet V Segrè, John M Rouhana, Andrew R Hamel, Robert P Igo Jr, Helene Choquet, Ayub Qassim, Navya S Josyula, Jessica N Cooke Bailey, Pieter WM Bonnemaijer, Adriana Iglesias, Owen M Siggs, Terri L Young, Veronique Vitart, Alberta AHJ Thiadens, Juha Karjalainen, Steffen Uebe, Ronald B Melles, K Saidas Nair, Robert Luben, Mark Simcoe, Nishani Amersinghe, Angela J Cree, Rene Hohn, Alicia Poplawski, Li Jia Chen, Shi-Song Rong, Tin Aung, Eranga Nishanthie Vithana, GIGA study group Kanyaro Neema 187 Ntomoka Cyprian 188 Massaga Julius J. 189 Ikungura Joyce K. 189, Gen Tamiya, Yukihiro Shiga, Masayuki Yamamoto, Toru Nakazawa, Hannah Currant, Ewan Birney, Xin Wang, Adam Auton, Michelle K Lupton, Nicholas G Martin, Adeyinka Ashaye, Olusola Olawoye, Susan E Williams, Stephen Akafo, Michele Ramsay, Kazuki Hashimoto, Yoichiro Kamatani, Masato Akiyama, Yukihide Momozawa, Paul J Foster, Peng T Khaw, James E Morgan, Nicholas G Strouthidis, Peter Kraft, Jae H Kang, Chi Pui Pang, Francesca Pasutto, Paul Mitchell, Andrew J Lotery, Aarno Palotie, Cornelia van Duijn, Jonathan L Haines, Chris Hammond, Louis R Pasquale, Caroline CW Klaver, Michael Hauser, Chiea Chuen Khor, David A Mackey, Michiaki Kubo, Ching-Yu Cheng, Jamie E Craig, Stuart MacGregor, Janey L Wiggs
发表日期
2021/2/24
期刊
Nature communications
卷号
12
期号
1
页码范围
1258
出版商
Nature Publishing Group UK
简介
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.
学术搜索中的文章
P Gharahkhani, E Jorgenson, P Hysi, AP Khawaja… - Nature communications, 2021