Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries.
Journal
Nature communications
ISSN: 2041-1723
Titre abrégé: Nat Commun
Pays: England
ID NLM: 101528555
Informations de publication
Date de publication:
24 02 2021
24 02 2021
Historique:
received:
22
01
2020
accepted:
08
12
2020
entrez:
25
2
2021
pubmed:
26
2
2021
medline:
4
3
2021
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 33627673
doi: 10.1038/s41467-020-20851-4
pii: 10.1038/s41467-020-20851-4
pmc: PMC7904932
doi:
Types de publication
Journal Article
Meta-Analysis
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1258Subventions
Organisme : NEI NIH HHS
ID : R21 EY028671
Pays : United States
Organisme : NEI NIH HHS
ID : R01 EY018246
Pays : United States
Organisme : NEI NIH HHS
ID : R01 EY027004
Pays : United States
Organisme : Medical Research Council
ID : G0401527
Pays : United Kingdom
Organisme : NEI NIH HHS
ID : R01 EY022305
Pays : United States
Organisme : Medical Research Council
ID : MC_UU_00007/10
Pays : United Kingdom
Organisme : Cancer Research UK
ID : 14136
Pays : United Kingdom
Organisme : NEI NIH HHS
ID : R01 EY031424
Pays : United States
Organisme : Cancer Research UK
ID : C864/A14136
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/T019050/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : MC-UU_12015/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : MC_UU_12015/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/N003284/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/T040912/1
Pays : United Kingdom
Organisme : NEI NIH HHS
ID : R01 EY023242
Pays : United States
Organisme : NEI NIH HHS
ID : R01 EY015473
Pays : United States
Organisme : Medical Research Council
ID : G1000143
Pays : United Kingdom
Organisme : NEI NIH HHS
ID : P30 EY014104
Pays : United States
Organisme : NEI NIH HHS
ID : P30 EY031631
Pays : United States
Organisme : Medical Research Council
ID : MC_PC_13048
Pays : United Kingdom
Organisme : NEI NIH HHS
ID : R01 EY022891
Pays : United States
Investigateurs
R Rand Allingham
(RR)
Murray Brilliant
(M)
Donald L Budenz
(DL)
Jessica N Cooke Bailey
(JNC)
John H Fingert
(JH)
Douglas Gaasterland
(D)
Teresa Gaasterland
(T)
Jonathan L Haines
(JL)
Michael Hauser
(M)
Richard K Lee
(RK)
Paul R Lichter
(PR)
Yutao Liu
(Y)
Syoko Moroi
(S)
Jonathan Myers
(J)
Margaret Pericak-Vance
(M)
Anthony Realini
(A)
Doug Rhee
(D)
Julia E Richards
(JE)
Robert Ritch
(R)
Joel S Schuman
(JS)
William K Scott
(WK)
Kuldev Singh
(K)
Arthur J Sit
(AJ)
Douglas Vollrath
(D)
Robert N Weinreb
(RN)
Gadi Wollstein
(G)
Donald J Zack
(DJ)
Shiwani Sharma
(S)
Sarah Martin
(S)
Tiger Zhou
(T)
Emmanuelle Souzeau
(E)
John Landers
(J)
Jude T Fitzgerald
(JT)
Richard A Mills
(RA)
Jamie Craig
(J)
Kathryn Burdon
(K)
Stuart L Graham
(SL)
Robert J Casson
(RJ)
Ivan Goldberg
(I)
Andrew J White
(AJ)
Paul R Healey
(PR)
David A Mackey
(DA)
Alex W Hewitt
(AW)
Masaki Shiono
(M)
Kazuo Misumi
(K)
Reiji Kaieda
(R)
Hiromasa Harada
(H)
Shiro Minami
(S)
Mitsuru Emi
(M)
Naoya Emoto
(N)
Hiroyuki Daida
(H)
Katsumi Miyauchi
(K)
Akira Murakami
(A)
Satoshi Asai
(S)
Mitsuhiko Moriyama
(M)
Yasuo Takahashi
(Y)
Tomoaki Fujioka
(T)
Wataru Obara
(W)
Seijiro Mori
(S)
Hideki Ito
(H)
Satoshi Nagayama
(S)
Yoshio Miki
(Y)
Akihide Masumoto
(A)
Akira Yamada
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Yasuko Nishizawa
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Ken Kodama
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Yukihiro Koretsune
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Hideo Kusuoka
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Hideki Yanaiag
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Akiko Nagai
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Makoto Hirata
(M)
Yoichiro Kamatani
(Y)
Kaori Muto
(K)
Koichi Matsuda
(K)
Yutaka Kiyohara
(Y)
Toshiharu Ninomiya
(T)
Akiko Tamakoshi
(A)
Zentaro Yamagata
(Z)
Taisei Mushiroda
(T)
Yoshinori Murakami
(Y)
Koichiro Yuji
(K)
Yoichi Furukawa
(Y)
Hitoshi Zembutsu
(H)
Toshihiro Tanaka
(T)
Yozo Ohnishi
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Yusuke Nakamura
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Anu Jalanko
(A)
Jaakko Kaprio
(J)
Kati Donner
(K)
Mari Kaunisto
(M)
Nina Mars
(N)
Alexander Dada
(A)
Anastasia Shcherban
(A)
Andrea Ganna
(A)
Arto Lehisto
(A)
Elina Kilpeläinen
(E)
Georg Brein
(G)
Ghazal Awaisa
(G)
Jarmo Harju
(J)
Kalle Pärn
(K)
Pietro Della Briotta Parolo
(P)
Risto Kajanne
(R)
Susanna Lemmelä
(S)
Timo P Sipilä
(TP)
Tuomas Sipilä
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Ulrike Lyhs
(U)
Vincent Llorens
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Teemu Niiranen
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Kati Kristiansson
(K)
Lotta Männikkö
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Manuel González Jiménez
(MG)
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(SK)
Sarah L Elson
(SL)
Kipper Fletez-Brant
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Pierre Fontanillas
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Nicholas A Furlotte
(NA)
Pooja M Gandhi
(PM)
Karl Heilbron
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(DA)
Karen E Huber
(KE)
Ethan M Jewett
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Nadia K Litterman
(NK)
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(MH)
Kimberly F McManus
(KF)
Joanna L Mountain
(JL)
Sahar V Mozaffari
(SV)
Priyanka Nandakumar
(P)
Elizabeth S Noblin
(ES)
Carrie A M Northover
(CAM)
Jared O'Connell
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G David Poznik
(GD)
J Fah Sathirapongsasuti
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(AJ)
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(JF)
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(S)
Chao Tian
(C)
Joyce Y Tung
(JY)
Robert J Tunney
(RJ)
Vladimir Vacic
(V)
Amir S Zare
(AS)
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