A proteogenomic signature of age-related macular degeneration in blood.
Nat Commun
; 13(1): 3401, 2022 06 13.
Article
in En
| MEDLINE
| ID: mdl-35697682
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.
Full text:
1
Database:
MEDLINE
Main subject:
Proteogenomics
/
Macular Degeneration
Type of study:
Clinical_trials
/
Etiology_studies
/
Prognostic_studies
/
Risk_factors_studies
Limits:
Aged
/
Humans
Language:
En
Year:
2022
Type:
Article