Genome-wide association meta-analysis for early age-related macular degeneration highlights novel loci and insights for advanced disease

  1. Winkler, Thomas ORCID logo
  2. Grassmann, Felix
  3. Brandl, Caroline
  4. Kiel, Christina
  5. Günther, Felix
  6. Strunz, Tobias
  7. Weidner, Lorraine
  8. Zimmermann, Martina E.
  9. Korb, Christina A.
  10. Poplawski, Alicia
  11. Schuster, Alexander K.
  12. Müller-Nurasyid, Martina
  13. Peters, Annette
  14. Rauscher, Franziska G.
  15. Elze, Tobias
  16. Horn, Katrin
  17. Scholz, Markus
  18. Cañadas-Garre, Marisa
  19. McKnight, Amy Jayne
  20. Quinn, Nicola
  21. Hogg, Ruth E.
  22. Küchenhoff, Helmut
  23. Heid, Iris M.
  24. Stark, Klaus J.
  25. Weber, Bernhard H. F.

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1000 Titel
  • Genome-wide association meta-analysis for early age-related macular degeneration highlights novel loci and insights for advanced disease
1000 Autor/in
  1. Winkler, Thomas |
  2. Grassmann, Felix |
  3. Brandl, Caroline |
  4. Kiel, Christina |
  5. Günther, Felix |
  6. Strunz, Tobias |
  7. Weidner, Lorraine |
  8. Zimmermann, Martina E. |
  9. Korb, Christina A. |
  10. Poplawski, Alicia |
  11. Schuster, Alexander K. |
  12. Müller-Nurasyid, Martina |
  13. Peters, Annette |
  14. Rauscher, Franziska G. |
  15. Elze, Tobias |
  16. Horn, Katrin |
  17. Scholz, Markus |
  18. Cañadas-Garre, Marisa |
  19. McKnight, Amy Jayne |
  20. Quinn, Nicola |
  21. Hogg, Ruth E. |
  22. Küchenhoff, Helmut |
  23. Heid, Iris M. |
  24. Stark, Klaus J. |
  25. Weber, Bernhard H. F. |
1000 Erscheinungsjahr 2020
1000 Publikationstyp
  1. Artikel |
1000 Online veröffentlicht
  • 2020-08-26
1000 Erschienen in
1000 Quellenangabe
  • 13(1):120
1000 Copyrightjahr
  • 2020
1000 Lizenz
1000 Verlagsversion
  • https://doi.org/10.1186/s12920-020-00760-7 |
  • https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7449002/ |
1000 Publikationsstatus
1000 Sprache der Publikation
1000 Abstract/Summary
  • Background!#!Advanced age-related macular degeneration (AMD) is a leading cause of blindness. While around half of the genetic contribution to advanced AMD has been uncovered, little is known about the genetic architecture of early AMD.!##!Methods!#!To identify genetic factors for early AMD, we conducted a genome-wide association study (GWAS) meta-analysis (14,034 cases, 91,214 controls, 11 sources of data including the International AMD Genomics Consortium, IAMDGC, and UK Biobank, UKBB). We ascertained early AMD via color fundus photographs by manual grading for 10 sources and via an automated machine learning approach for > 170,000 photographs from UKBB. We searched for early AMD loci via GWAS and via a candidate approach based on 14 previously suggested early AMD variants.!##!Results!#!Altogether, we identified 10 independent loci with statistical significance for early AMD: (i) 8 from our GWAS with genome-wide significance (P < 5 × 10!##!Conclusions!#!Our GWAS on early AMD identified novel loci, highlighted shared and distinct genetics between early and advanced AMD and provides insights into AMD etiology. Our data provide a resource comparable in size to the existing IAMDGC data on advanced AMD genetics enabling a joint view. The biological relevance of this joint view is underscored by the ability of early AMD effects to differentiate the major pathways for advanced AMD.
1000 Sacherschließung
lokal
lokal Genetic Markers [MeSH]
lokal Genetic Predisposition to Disease [MeSH]
lokal Genome-wide association study (GWAS)
lokal UK biobank (UKBB)
lokal Polymorphism, Single Nucleotide [MeSH]
lokal Humans [MeSH]
lokal Machine-learning
lokal Early AMD
lokal Meta-analysis
lokal Genome-Wide Association Study [MeSH]
lokal Genetic Loci [MeSH]
lokal Genomic epidemiology
lokal Macular Degeneration/pathology [MeSH]
lokal Age-related macular degeneration (AMD)
lokal Case-Control Studies [MeSH]
lokal International AMD genomics consortium (IAMDGC)
lokal Research Article
lokal Macular Degeneration/genetics [MeSH]
lokal Automated phenotyping
1000 Liste der Beteiligten
  1. https://orcid.org/0000-0003-0292-5421|https://frl.publisso.de/adhoc/uri/R3Jhc3NtYW5uLCBGZWxpeA==|https://frl.publisso.de/adhoc/uri/QnJhbmRsLCBDYXJvbGluZQ==|https://frl.publisso.de/adhoc/uri/S2llbCwgQ2hyaXN0aW5h|https://frl.publisso.de/adhoc/uri/R8O8bnRoZXIsIEZlbGl4|https://frl.publisso.de/adhoc/uri/U3RydW56LCBUb2JpYXM=|https://frl.publisso.de/adhoc/uri/V2VpZG5lciwgTG9ycmFpbmU=|https://frl.publisso.de/adhoc/uri/WmltbWVybWFubiwgTWFydGluYSBFLg==|https://frl.publisso.de/adhoc/uri/S29yYiwgQ2hyaXN0aW5hIEEu|https://frl.publisso.de/adhoc/uri/UG9wbGF3c2tpLCBBbGljaWE=|https://frl.publisso.de/adhoc/uri/U2NodXN0ZXIsIEFsZXhhbmRlciBLLg==|https://frl.publisso.de/adhoc/uri/TcO8bGxlci1OdXJhc3lpZCwgTWFydGluYQ==|https://frl.publisso.de/adhoc/uri/UGV0ZXJzLCBBbm5ldHRl|https://frl.publisso.de/adhoc/uri/UmF1c2NoZXIsIEZyYW56aXNrYSBHLg==|https://frl.publisso.de/adhoc/uri/RWx6ZSwgVG9iaWFz|https://frl.publisso.de/adhoc/uri/SG9ybiwgS2F0cmlu|https://frl.publisso.de/adhoc/uri/U2Nob2x6LCBNYXJrdXM=|https://frl.publisso.de/adhoc/uri/Q2HDsWFkYXMtR2FycmUsIE1hcmlzYQ==|https://frl.publisso.de/adhoc/uri/TWNLbmlnaHQsIEFteSBKYXluZQ==|https://frl.publisso.de/adhoc/uri/UXVpbm4sIE5pY29sYQ==|https://frl.publisso.de/adhoc/uri/SG9nZywgUnV0aCBFLg==|https://frl.publisso.de/adhoc/uri/S8O8Y2hlbmhvZmYsIEhlbG11dA==|https://frl.publisso.de/adhoc/uri/SGVpZCwgSXJpcyBNLg==|https://frl.publisso.de/adhoc/uri/U3RhcmssIEtsYXVzIEou|https://frl.publisso.de/adhoc/uri/V2ViZXIsIEJlcm5oYXJkIEguIEYu
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