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Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries.

Publication ,  Journal Article
Gharahkhani, P; Jorgenson, E; Hysi, P; Khawaja, AP; Pendergrass, S; Han, X; Ong, JS; Hewitt, AW; Segrè, AV; Rouhana, JM; Hamel, AR; Igo, RP ...
Published in: Nat Commun
February 24, 2021
Published version (DOI) Link to item

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.

Duke Scholars

Terri Lois Young
Author Terri Lois Young Ophthalmology
Michael Arthur Hauser
Author Michael Arthur Hauser Medicine, Medical Genetics
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Published In

Nat Commun

DOI

10.1038/s41467-020-20851-4

EISSN

2041-1723

Publication Date

February 24, 2021

Volume

12

Issue

1

Start / End Page

1258

Location

England

Related Subject Headings

  • White People
  • Polymorphism, Single Nucleotide
  • Humans
  • Glaucoma, Open-Angle
  • Genotype
  • Genome-Wide Association Study
  • Genetic Predisposition to Disease
  • Genetic Loci
  • Asian People
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Gharahkhani, P., Jorgenson, E., Hysi, P., Khawaja, A. P., Pendergrass, S., Han, X., … Wiggs, J. L. (2021). Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries. Nat Commun, 12(1), 1258. https://doi.org/10.1038/s41467-020-20851-4
Gharahkhani, Puya, Eric Jorgenson, Pirro Hysi, Anthony P. Khawaja, Sarah Pendergrass, Xikun Han, Jue Sheng Ong, et al. “Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries.” Nat Commun 12, no. 1 (February 24, 2021): 1258. https://doi.org/10.1038/s41467-020-20851-4.
Gharahkhani P, Jorgenson E, Hysi P, Khawaja AP, Pendergrass S, Han X, et al. Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries. Nat Commun. 2021 Feb 24;12(1):1258.
Gharahkhani, Puya, et al. “Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries.” Nat Commun, vol. 12, no. 1, Feb. 2021, p. 1258. Pubmed, doi:10.1038/s41467-020-20851-4.
Gharahkhani P, Jorgenson E, Hysi P, Khawaja AP, Pendergrass S, Han X, Ong JS, Hewitt AW, Segrè AV, Rouhana JM, Hamel AR, Igo RP, Choquet H, Qassim A, Josyula NS, Cooke Bailey JN, Bonnemaijer PWM, Iglesias A, Siggs OM, Young TL, Vitart V, Thiadens AAHJ, Karjalainen J, Uebe S, Melles RB, Nair KS, Luben R, Simcoe M, Amersinghe N, Cree AJ, Hohn R, Poplawski A, Chen LJ, Rong S-S, Aung T, Vithana EN, NEIGHBORHOOD consortium, ANZRAG consortium, Biobank Japan project, FinnGen study, UK Biobank Eye and Vision Consortium, GIGA study group, 23 and Me Research Team, Tamiya G, Shiga Y, Yamamoto M, Nakazawa T, Currant H, Birney E, Wang X, Auton A, Lupton MK, Martin NG, Ashaye A, Olawoye O, Williams SE, Akafo S, Ramsay M, Hashimoto K, Kamatani Y, Akiyama M, Momozawa Y, Foster PJ, Khaw PT, Morgan JE, Strouthidis NG, Kraft P, Kang JH, Pang CP, Pasutto F, Mitchell P, Lotery AJ, Palotie A, van Duijn C, Haines JL, Hammond C, Pasquale LR, Klaver CCW, Hauser M, Khor CC, Mackey DA, Kubo M, Cheng C-Y, Craig JE, MacGregor S, Wiggs JL. Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries. Nat Commun. 2021 Feb 24;12(1):1258.

Published In

Nat Commun

DOI

10.1038/s41467-020-20851-4

EISSN

2041-1723

Publication Date

February 24, 2021

Volume

12

Issue

1

Start / End Page

1258

Location

England

Related Subject Headings

  • White People
  • Polymorphism, Single Nucleotide
  • Humans
  • Glaucoma, Open-Angle
  • Genotype
  • Genome-Wide Association Study
  • Genetic Predisposition to Disease
  • Genetic Loci
  • Asian People