A proteogenomic signature of age-related macular degeneration in blood

Valur Emilsson (), Elias F. Gudmundsson, Thorarinn Jonmundsson, Brynjolfur G. Jonsson, Michael Twarog, Valborg Gudmundsdottir, Zhiguang Li, Nancy Finkel, Stephen Poor, Xin Liu, Robert Esterberg, Yiyun Zhang, Sandra Jose, Chia-Ling Huang, Sha-Mei Liao, Joseph Loureiro, Qin Zhang, Cynthia L. Grosskreutz, Andrew A. Nguyen, Qian Huang, Barrett Leehy, Rebecca Pitts, Thor Aspelund, John R. Lamb, Fridbert Jonasson, Lenore J. Launer, Mary Frances Cotch, Lori L. Jennings, Vilmundur Gudnason and Tony E. Walshe ()
Additional contact information
Valur Emilsson: Icelandic Heart Association
Elias F. Gudmundsson: Icelandic Heart Association
Thorarinn Jonmundsson: Icelandic Heart Association
Brynjolfur G. Jonsson: Icelandic Heart Association
Michael Twarog: Novartis Institutes for Biomedical Research
Valborg Gudmundsdottir: Icelandic Heart Association
Zhiguang Li: Laboratory of Epidemiology and Population Sciences, National Institute on Aging
Nancy Finkel: Novartis Institutes for Biomedical Research
Stephen Poor: Novartis Institutes for Biomedical Research
Xin Liu: Novartis Institutes for Biomedical Research
Robert Esterberg: Novartis Institutes for Biomedical Research
Yiyun Zhang: Novartis Institutes for Biomedical Research
Sandra Jose: Novartis Institutes for Biomedical Research
Chia-Ling Huang: Novartis Institutes for Biomedical Research
Sha-Mei Liao: Novartis Institutes for Biomedical Research
Joseph Loureiro: Novartis Institutes for Biomedical Research
Qin Zhang: Novartis Institutes for Biomedical Research
Cynthia L. Grosskreutz: Novartis Institutes for Biomedical Research
Andrew A. Nguyen: Novartis Institutes for Biomedical Research
Qian Huang: Novartis Institutes for Biomedical Research
Barrett Leehy: Novartis Institutes for Biomedical Research
Rebecca Pitts: Novartis Institutes for Biomedical Research
Thor Aspelund: Icelandic Heart Association
John R. Lamb: Novartis Institutes for Biomedical Research
Fridbert Jonasson: University of Iceland
Lenore J. Launer: Laboratory of Epidemiology and Population Sciences, National Institute on Aging
Mary Frances Cotch: National Institutes of Health
Lori L. Jennings: Novartis Institutes for Biomedical Research
Vilmundur Gudnason: Icelandic Heart Association
Tony E. Walshe: Novartis Institutes for Biomedical Research

Nature Communications, 2022, vol. 13, issue 1, 1-15

Abstract: 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.

Date: 2022
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DOI: 10.1038/s41467-022-31085-x

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