A proteogenomic signature of age-related macular degeneration in blood

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dc.contributor.authorEmilsson, Valur
dc.contributor.authorGudmundsson, Elias F
dc.contributor.authorJonmundsson, Thorarinn
dc.contributor.authorJonsson, Brynjolfur G
dc.contributor.authorTwarog, Michael
dc.contributor.authorGudmundsdottir, Valborg
dc.contributor.authorLi, Zhiguang
dc.contributor.authorFinkel, Nancy
dc.contributor.authorPoor, Stephen
dc.contributor.authorLiu, Xin
dc.contributor.authorEsterberg, Robert
dc.contributor.authorZhang, Yiyun
dc.contributor.authorJose, Sandra
dc.contributor.authorHuang, Chia-Ling
dc.contributor.authorLiao, Sha-Mei
dc.contributor.authorLoureiro, Joseph
dc.contributor.authorZhang, Qin
dc.contributor.authorGrosskreutz, Cynthia L
dc.contributor.authorNguyen, Andrew A
dc.contributor.authorHuang, Qian
dc.contributor.authorLeehy, Barrett
dc.contributor.authorPitts, Rebecca
dc.contributor.authorAspelund, Thor
dc.contributor.authorLamb, John R
dc.contributor.authorJonasson, Fridbert
dc.contributor.authorLauner, Lenore J
dc.contributor.authorCotch, Mary Frances
dc.contributor.authorJennings, Lori L
dc.contributor.authorGudnason, Vilmundur
dc.contributor.authorWalshe, Tony E
dc.contributor.departmentFaculty of Medicine
dc.contributor.schoolHealth Sciences
dc.date.accessioned2025-11-20T08:46:39Z
dc.date.available2025-11-20T08:46:39Z
dc.date.issued2022-06-13
dc.description© 2022. The Author(s). Funding Information: The authors acknowledge the contribution of the Icelandic Heart Association (IHA) staff to the AGES-RS, as well as the involvement of all study participants. We thank the IAMDGC consortium for supplying us with their GWAS summary statistics data. National Institute on Aging (NIA) contracts N01-AG-12100 and HHSN271201200022C for V.G. financed the AGES study; retinal image collection and AMD readings were funded by the NIH Intramural Research Program (ZIAEY000401). V.G. received a funding from the NIA (1R01AG065596), and IHA received a support from Althingi (the Icelandic Parliament). The Icelandic Research Fund (IRF) funded V.E. and Va.G. with grants 195761-051, 184845-053, and 206692-051, while Va.G. received a postdoctoral research grant from the University of Iceland Research Fund Funding Information: The study was supported by the Novartis Institute for Biomedical Research. M.T., N.F., S.P., X.L., R.E., Y.Z., S.J., C.L.H., S.M.L., J.L., C.L.G., A.A.N., B.L., R.P., Z.L., L.L.J., T.E.W., Q.Z., Q.H., and J.R.L. are employees and stockholders of Novartis. All other authors have no conflict of interests to declare. Publisher Copyright: © 2022, The Author(s).en
dc.description.abstractAge-related macular degeneration (AMD) is one of the most common causes of visual impairment in the elderly, with a complex and still poorly understood etiology. Whole-genome association studies have discovered 34 genomic regions associated with AMD. However, the genes and cognate proteins that mediate the risk, are largely unknown. In the current study, we integrate levels of 4782 human serum proteins with all genetic risk loci for AMD in a large population-based study of the elderly, revealing many proteins and pathways linked to the disease. Serum proteins are also found to reflect AMD severity independent of genetics and predict progression from early to advanced AMD after five years in this population. A two-sample Mendelian randomization study identifies several proteins that are causally related to the disease and are directionally consistent with the observational estimates. In this work, we present a robust and unique framework for elucidating the pathobiology of AMD.en
dc.description.versionPeer revieweden
dc.format.extent1690881
dc.format.extent
dc.identifier.citationEmilsson, V, Gudmundsson, E F, Jonmundsson, T, Jonsson, B G, Twarog, M, Gudmundsdottir, V, Li, Z, Finkel, N, Poor, S, Liu, X, Esterberg, R, Zhang, Y, Jose, S, Huang, C-L, Liao, S-M, Loureiro, J, Zhang, Q, Grosskreutz, C L, Nguyen, A A, Huang, Q, Leehy, B, Pitts, R, Aspelund, T, Lamb, J R, Jonasson, F, Launer, L J, Cotch, M F, Jennings, L L, Gudnason, V & Walshe, T E 2022, 'A proteogenomic signature of age-related macular degeneration in blood', Nature Communications, vol. 13, no. 1, 3401. https://doi.org/10.1038/s41467-022-31085-xen
dc.identifier.doi10.1038/s41467-022-31085-x
dc.identifier.issn2041-1723
dc.identifier.other51747860
dc.identifier.otherbb82667f-5169-4789-a661-570e964b26ae
dc.identifier.other35697682
dc.identifier.other85132050170
dc.identifier.otherunpaywall: 10.1038/s41467-022-31085-x
dc.identifier.urihttps://hdl.handle.net/20.500.11815/6730
dc.language.isoen
dc.relation.ispartofseriesNature Communications; 13(1)en
dc.relation.urlhttps://www.scopus.com/pages/publications/85132050170en
dc.rightsinfo:eu-repo/semantics/openAccessen
dc.subjectAgeden
dc.subjectGenetic Locien
dc.subjectGenome-Wide Association Studyen
dc.subjectHumansen
dc.subjectMacular Degeneration/geneticsen
dc.subjectMendelian Randomization Analysisen
dc.subjectProteogenomicsen
dc.subjectRisk Factorsen
dc.subjectAugnbotnaren
dc.subjectMultidisciplinaryen
dc.subjectGeneral Physics and Astronomyen
dc.subjectGeneral Chemistryen
dc.subjectGeneral Biochemistry,Genetics and Molecular Biologyen
dc.titleA proteogenomic signature of age-related macular degeneration in blooden
dc.type/dk/atira/pure/researchoutput/researchoutputtypes/contributiontojournal/articleen

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