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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.
Afiliación
  • Emilsson V; Icelandic Heart Association, Holtasmari 1, IS-201, Kopavogur, Iceland. valur@hjarta.is.
  • Gudmundsson EF; Faculty of Medicine, University of Iceland, 101, Reykjavik, Iceland. valur@hjarta.is.
  • Jonmundsson T; Icelandic Heart Association, Holtasmari 1, IS-201, Kopavogur, Iceland.
  • Jonsson BG; Icelandic Heart Association, Holtasmari 1, IS-201, Kopavogur, Iceland.
  • Twarog M; Icelandic Heart Association, Holtasmari 1, IS-201, Kopavogur, Iceland.
  • Gudmundsdottir V; Novartis Institutes for Biomedical Research, 22 Windsor Street, Cambridge, MA, 02139, USA.
  • Li Z; Icelandic Heart Association, Holtasmari 1, IS-201, Kopavogur, Iceland.
  • Finkel N; Faculty of Medicine, University of Iceland, 101, Reykjavik, Iceland.
  • Poor S; Laboratory of Epidemiology and Population Sciences, National Institute on Aging, Bethesda, MD, USA.
  • Liu X; Novartis Institutes for Biomedical Research, 22 Windsor Street, Cambridge, MA, 02139, USA.
  • Esterberg R; Novartis Institutes for Biomedical Research, 22 Windsor Street, Cambridge, MA, 02139, USA.
  • Zhang Y; Novartis Institutes for Biomedical Research, 22 Windsor Street, Cambridge, MA, 02139, USA.
  • Jose S; Novartis Institutes for Biomedical Research, 22 Windsor Street, Cambridge, MA, 02139, USA.
  • Huang CL; Novartis Institutes for Biomedical Research, 22 Windsor Street, Cambridge, MA, 02139, USA.
  • Liao SM; Novartis Institutes for Biomedical Research, 22 Windsor Street, Cambridge, MA, 02139, USA.
  • Loureiro J; Novartis Institutes for Biomedical Research, 22 Windsor Street, Cambridge, MA, 02139, USA.
  • Zhang Q; Novartis Institutes for Biomedical Research, 22 Windsor Street, Cambridge, MA, 02139, USA.
  • Grosskreutz CL; Novartis Institutes for Biomedical Research, 22 Windsor Street, Cambridge, MA, 02139, USA.
  • Nguyen AA; Novartis Institutes for Biomedical Research, 22 Windsor Street, Cambridge, MA, 02139, USA.
  • Huang Q; Novartis Institutes for Biomedical Research, 22 Windsor Street, Cambridge, MA, 02139, USA.
  • Leehy B; Novartis Institutes for Biomedical Research, 22 Windsor Street, Cambridge, MA, 02139, USA.
  • Pitts R; Novartis Institutes for Biomedical Research, 22 Windsor Street, Cambridge, MA, 02139, USA.
  • Aspelund T; Novartis Institutes for Biomedical Research, 22 Windsor Street, Cambridge, MA, 02139, USA.
  • Lamb JR; Novartis Institutes for Biomedical Research, 22 Windsor Street, Cambridge, MA, 02139, USA.
  • Jonasson F; Icelandic Heart Association, Holtasmari 1, IS-201, Kopavogur, Iceland.
  • Launer LJ; Novartis Institutes for Biomedical Research, 10675 John Jay Hopkins Drive, San Diego, CA, 92121, USA.
  • Cotch MF; Faculty of Medicine, University of Iceland, 101, Reykjavik, Iceland.
  • Jennings LL; Department of Ophthalmology, University Hospital, Reykjavik, Iceland.
  • Gudnason V; Laboratory of Epidemiology and Population Sciences, National Institute on Aging, Bethesda, MD, USA.
  • Walshe TE; Division of Epidemiology and Clinical Applications, National Eye Institute, National Institutes of Health, Bethesda, MD, USA.
Nat Commun ; 13(1): 3401, 2022 06 13.
Article en 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.
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Proteogenómica / Degeneración Macular Tipo de estudio: Clinical_trials / Etiology_studies / Prognostic_studies / Risk_factors_studies Límite: Aged / Humans Idioma: En Revista: Nat Commun Asunto de la revista: BIOLOGIA / CIENCIA Año: 2022 Tipo del documento: Article País de afiliación: Islandia
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Proteogenómica / Degeneración Macular Tipo de estudio: Clinical_trials / Etiology_studies / Prognostic_studies / Risk_factors_studies Límite: Aged / Humans Idioma: En Revista: Nat Commun Asunto de la revista: BIOLOGIA / CIENCIA Año: 2022 Tipo del documento: Article País de afiliación: Islandia