Nature communications · 2022
A proteogenomic signature of age-related macular degeneration in blood.
СтатьяПоддержка исследования: вне правительства СШАПоддержка NIH: внешняя программаResearch Support, N.I.H., IntramuralНазвание и аннотация: Перевод в очереди
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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
Аннотация
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.