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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, Robert P.; Choquet, Helene; Qassim, Ayub; Josyula, Navya S.; Cooke Bailey, Jessica N.; Bonnemaijer, Pieter W. M.; Iglesias, Adriana; Siggs, Owen M.; Young, Terri L.; Vitart, Veronique; Thiadens, Alberta A. H. J.; Karjalainen, Juha; Uebe, Steffen; [...]

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

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  • Medientyp: E-Artikel
  • Titel: Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries
  • Beteiligte: 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, Robert P.; Choquet, Helene; Qassim, Ayub; Josyula, Navya S.; Cooke Bailey, Jessica N.; Bonnemaijer, Pieter W. M.; Iglesias, Adriana; Siggs, Owen M.; Young, Terri L.; Vitart, Veronique; Thiadens, Alberta A. H. J.; Karjalainen, Juha; Uebe, Steffen; [...]
  • Erschienen: Springer Science and Business Media LLC, 2021
  • Erschienen in: Nature Communications
  • Sprache: Englisch
  • DOI: 10.1038/s41467-020-20851-4
  • ISSN: 2041-1723
  • Schlagwörter: General Physics and Astronomy ; General Biochemistry, Genetics and Molecular Biology ; General Chemistry ; Multidisciplinary
  • Entstehung:
  • Anmerkungen:
  • Beschreibung: <jats:title>Abstract</jats:title><jats:p>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 <jats:italic>SVEP1, RERE, VCAM1, ZNF638</jats:italic>, <jats:italic>CLIC5, SLC2A12, YAP1, MXRA5</jats:italic>, and <jats:italic>SMAD6</jats:italic>. Several drug compounds targeting POAG risk genes may be potential glaucoma therapeutic candidates.</jats:p>
  • Zugangsstatus: Freier Zugang