TY - JOUR
T1 - Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries
AU - FinnGen study
AU - UK Biobank Eye and Vision Consortium
AU - GIGA study group
AU - 23 and Me Research Team
AU - NEIGHBORHOOD Consortium
AU - ANZRAG consortium
AU - Biobank Japan project
AU - Gharahkhani, Puya
AU - Jorgenson, Eric
AU - Hysi, Pirro
AU - Khawaja, Anthony P.
AU - Pendergrass, Sarah
AU - Han, Xikun
AU - Ong, Jue Sheng
AU - Hewitt, Alex W.
AU - Segrè, Ayellet V.
AU - Rouhana, John M.
AU - Hamel, Andrew R.
AU - Igo, Robert P.
AU - Choquet, Helene
AU - Qassim, Ayub
AU - Josyula, Navya S.
AU - Cooke Bailey, Jessica N.
AU - Bonnemaijer, Pieter W.M.
AU - Iglesias, Adriana
AU - Siggs, Owen M.
AU - Young, Terri L.
AU - Vitart, Veronique
AU - Thiadens, Alberta A.H.J.
AU - Karjalainen, Juha
AU - Uebe, Steffen
AU - Melles, Ronald B.
AU - Nair, K. Saidas
AU - Luben, Robert
AU - Simcoe, Mark
AU - Amersinghe, Nishani
AU - Cree, Angela J.
AU - Hohn, Rene
AU - Poplawski, Alicia
AU - Chen, Li Jia
AU - Rong, Shi Song
AU - Aung, Tin
AU - Vithana, Eranga Nishanthie
AU - Allingham, R. Rand
AU - Brilliant, Murray
AU - Budenz, Donald L.
AU - Bailey, Jessica N.Cooke
AU - Fingert, John H.
AU - Gaasterland, Douglas
AU - Gaasterland, Teresa
AU - Haines, Jonathan L.
AU - Hauser, Michael
AU - Lee, Richard K.
AU - Lichter, Paul R.
AU - Liu, Yutao
AU - Moroi, Syoko
AU - Zack, Donald J.
N1 - Publisher Copyright:
© 2021, The Author(s).
PY - 2021/12/1
Y1 - 2021/12/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85101839427&partnerID=8YFLogxK
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U2 - 10.1038/s41467-020-20851-4
DO - 10.1038/s41467-020-20851-4
M3 - Article
C2 - 33627673
AN - SCOPUS:85101839427
SN - 2041-1723
VL - 12
JO - Nature communications
JF - Nature communications
IS - 1
M1 - 1258
ER -