A proteogenomic signature of age-related macular degeneration in blood.


Journal

Nature communications
ISSN: 2041-1723
Titre abrégé: Nat Commun
Pays: England
ID NLM: 101528555

Informations de publication

Date de publication:
13 06 2022
Historique:
received: 06 08 2021
accepted: 01 06 2022
entrez: 13 6 2022
pubmed: 14 6 2022
medline: 16 6 2022
Statut: epublish

Résumé

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.

Identifiants

pubmed: 35697682
doi: 10.1038/s41467-022-31085-x
pii: 10.1038/s41467-022-31085-x
pmc: PMC9192739
doi:

Types de publication

Journal Article Research Support, Non-U.S. Gov't Research Support, N.I.H., Extramural Research Support, N.I.H., Intramural

Langues

eng

Sous-ensembles de citation

IM

Pagination

3401

Subventions

Organisme : NIA NIH HHS
ID : N01AG12100
Pays : United States
Organisme : NIDA NIH HHS
ID : HHSN271201200022C
Pays : United States
Organisme : Intramural NIH HHS
ID : ZIA EY000401
Pays : United States
Organisme : NIA NIH HHS
ID : R01 AG065596
Pays : United States

Informations de copyright

© 2022. The Author(s).

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Auteurs

Valur Emilsson (V)

Icelandic Heart Association, Holtasmari 1, IS-201, Kopavogur, Iceland. valur@hjarta.is.
Faculty of Medicine, University of Iceland, 101, Reykjavik, Iceland. valur@hjarta.is.

Elias F Gudmundsson (EF)

Icelandic Heart Association, Holtasmari 1, IS-201, Kopavogur, Iceland.

Thorarinn Jonmundsson (T)

Icelandic Heart Association, Holtasmari 1, IS-201, Kopavogur, Iceland.

Brynjolfur G Jonsson (BG)

Icelandic Heart Association, Holtasmari 1, IS-201, Kopavogur, Iceland.

Michael Twarog (M)

Novartis Institutes for Biomedical Research, 22 Windsor Street, Cambridge, MA, 02139, USA.

Valborg Gudmundsdottir (V)

Icelandic Heart Association, Holtasmari 1, IS-201, Kopavogur, Iceland.
Faculty of Medicine, University of Iceland, 101, Reykjavik, Iceland.

Zhiguang Li (Z)

Laboratory of Epidemiology and Population Sciences, National Institute on Aging, Bethesda, MD, USA.

Nancy Finkel (N)

Novartis Institutes for Biomedical Research, 22 Windsor Street, Cambridge, MA, 02139, USA.

Stephen Poor (S)

Novartis Institutes for Biomedical Research, 22 Windsor Street, Cambridge, MA, 02139, USA.

Xin Liu (X)

Novartis Institutes for Biomedical Research, 22 Windsor Street, Cambridge, MA, 02139, USA.

Robert Esterberg (R)

Novartis Institutes for Biomedical Research, 22 Windsor Street, Cambridge, MA, 02139, USA.

Yiyun Zhang (Y)

Novartis Institutes for Biomedical Research, 22 Windsor Street, Cambridge, MA, 02139, USA.

Sandra Jose (S)

Novartis Institutes for Biomedical Research, 22 Windsor Street, Cambridge, MA, 02139, USA.

Chia-Ling Huang (CL)

Novartis Institutes for Biomedical Research, 22 Windsor Street, Cambridge, MA, 02139, USA.

Sha-Mei Liao (SM)

Novartis Institutes for Biomedical Research, 22 Windsor Street, Cambridge, MA, 02139, USA.

Joseph Loureiro (J)

Novartis Institutes for Biomedical Research, 22 Windsor Street, Cambridge, MA, 02139, USA.

Qin Zhang (Q)

Novartis Institutes for Biomedical Research, 22 Windsor Street, Cambridge, MA, 02139, USA.

Cynthia L Grosskreutz (CL)

Novartis Institutes for Biomedical Research, 22 Windsor Street, Cambridge, MA, 02139, USA.

Andrew A Nguyen (AA)

Novartis Institutes for Biomedical Research, 22 Windsor Street, Cambridge, MA, 02139, USA.

Qian Huang (Q)

Novartis Institutes for Biomedical Research, 22 Windsor Street, Cambridge, MA, 02139, USA.

Barrett Leehy (B)

Novartis Institutes for Biomedical Research, 22 Windsor Street, Cambridge, MA, 02139, USA.

Rebecca Pitts (R)

Novartis Institutes for Biomedical Research, 22 Windsor Street, Cambridge, MA, 02139, USA.

Thor Aspelund (T)

Icelandic Heart Association, Holtasmari 1, IS-201, Kopavogur, Iceland.

John R Lamb (JR)

Novartis Institutes for Biomedical Research, 10675 John Jay Hopkins Drive, San Diego, CA, 92121, USA.

Fridbert Jonasson (F)

Faculty of Medicine, University of Iceland, 101, Reykjavik, Iceland.
Department of Ophthalmology, University Hospital, Reykjavik, Iceland.

Lenore J Launer (LJ)

Laboratory of Epidemiology and Population Sciences, National Institute on Aging, Bethesda, MD, USA.

Mary Frances Cotch (MF)

Division of Epidemiology and Clinical Applications, National Eye Institute, National Institutes of Health, Bethesda, MD, USA.

Lori L Jennings (LL)

Novartis Institutes for Biomedical Research, 22 Windsor Street, Cambridge, MA, 02139, USA.

Vilmundur Gudnason (V)

Icelandic Heart Association, Holtasmari 1, IS-201, Kopavogur, Iceland.
Faculty of Medicine, University of Iceland, 101, Reykjavik, Iceland.

Tony E Walshe (TE)

Novartis Institutes for Biomedical Research, 22 Windsor Street, Cambridge, MA, 02139, USA. tony.walshe@agios.com.

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