A proteogenomic signature of age-related macular degeneration in blood

Emilsson, Valur; Gudmundsson, Elias F; Jonmundsson, Thorarinn; Jonsson, Brynjolfur G; Twarog, Michael; Gudmundsdottir, Valborg; Li, Zhiguang; Finkel, Nancy; Poor, Stephen; Liu, Xin; Esterberg, Robert; Zhang, Yiyun; Jose, Sandra; Huang, Chia-Ling; Liao, Sha-Mei; Loureiro, Joseph; Zhang, Qin; Grosskreutz, Cynthia L; Nguyen, Andrew A; Huang, Qian; Leehy, Barrett; Pitts, Rebecca; Aspelund, Thor; Lamb, John R; Jonasson, Fridbert; Launer, Lenore J; Cotch, Mary Frances; Jennings, Lori L; Gudnason, Vilmundur; Walshe, Tony E

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dc.contributor.author	orcid.org/0000-0001-9982-0524 Emilsson, Valur
dc.contributor.author	Gudmundsson, Elias F
dc.contributor.author	Jonmundsson, Thorarinn
dc.contributor.author	Jonsson, Brynjolfur G
dc.contributor.author	Twarog, Michael
dc.contributor.author	Gudmundsdottir, Valborg
dc.contributor.author	Li, Zhiguang
dc.contributor.author	Finkel, Nancy
dc.contributor.author	Poor, Stephen
dc.contributor.author	Liu, Xin
dc.contributor.author	Esterberg, Robert
dc.contributor.author	Zhang, Yiyun
dc.contributor.author	Jose, Sandra
dc.contributor.author	Huang, Chia-Ling
dc.contributor.author	Liao, Sha-Mei
dc.contributor.author	Loureiro, Joseph
dc.contributor.author	Zhang, Qin
dc.contributor.author	Grosskreutz, Cynthia L
dc.contributor.author	Nguyen, Andrew A
dc.contributor.author	Huang, Qian
dc.contributor.author	Leehy, Barrett
dc.contributor.author	Pitts, Rebecca
dc.contributor.author	orcid.org/0000-0002-7998-5433 Aspelund, Thor
dc.contributor.author	Lamb, John R
dc.contributor.author	orcid.org/0000-0001-8366-2090 Jonasson, Fridbert
dc.contributor.author	Launer, Lenore J
dc.contributor.author	Cotch, Mary Frances
dc.contributor.author	Jennings, Lori L
dc.contributor.author	orcid.org/0000-0001-5696-0084 Gudnason, Vilmundur
dc.contributor.author	Walshe, Tony E
dc.date.accessioned	2022-08-23T01:03:29Z
dc.date.available	2022-08-23T01:03:29Z
dc.date.issued	2022-06-13
dc.identifier.citation	Emilsson , 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-x
dc.identifier.issn	2041-1723
dc.identifier.other	51747860
dc.identifier.other	bb82667f-5169-4789-a661-570e964b26ae
dc.identifier.other	35697682
dc.identifier.other	85132050170
dc.identifier.other	unpaywall: 10.1038/s41467-022-31085-x
dc.identifier.uri	https://hdl.handle.net/20.500.11815/3332
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).
dc.description.abstract	Age-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.
dc.format.extent	1690881
dc.format.extent
dc.language.iso	en
dc.relation.ispartofseries	Nature Communications; 13(1)
dc.rights	info:eu-repo/semantics/openAccess
dc.subject	Augnlæknisfræði
dc.subject	Aged
dc.subject	Genetic Loci
dc.subject	Genome-Wide Association Study
dc.subject	Humans
dc.subject	Macular Degeneration/genetics
dc.subject	Mendelian Randomization Analysis
dc.subject	Proteogenomics
dc.subject	Risk Factors
dc.subject	Augnbotnar
dc.subject	Multidisciplinary
dc.subject	General Physics and Astronomy
dc.subject	General Chemistry
dc.subject	General Biochemistry,Genetics and Molecular Biology
dc.title	A proteogenomic signature of age-related macular degeneration in blood
dc.type	/dk/atira/pure/researchoutput/researchoutputtypes/contributiontojournal/article
dc.description.version	Peer reviewed
dc.identifier.doi	10.1038/s41467-022-31085-x
dc.relation.url	http://www.scopus.com/inward/record.url?scp=85132050170&partnerID=8YFLogxK
dc.contributor.department	Faculty of Medicine
dc.contributor.school	Health Sciences