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Pietzner, M.* ; Wheeler, E.* ; Carrasco-Zanini, J.* ; Cortes, A.* ; Koprulu, M.* ; Wörheide, M. ; Oerton, E.* ; Cook, J.* ; Stewart, I.D.* ; Kerrison, N.D.* ; Luan, J.* ; Raffler, J. ; Arnold, M. ; Arlt, W.* ; O'Rahilly, S.* ; Kastenmüller, G. ; Gamazon, E.R.* ; Hingorani, A.D.* ; Scott, R.A.* ; Wareham, N.J.* ; Langenberg, C.*

Mapping the proteo-genomic convergence of human diseases.

Science 374:eabj1541 (2021)
Verlagsversion Postprint DOI PMC
Open Access Green
Characterization of the genetic regulation of proteins is essential for understanding disease etiology and developing therapies. We identified 10,674 genetic associations for 3,892 plasma proteins to create a cis-anchored gene-protein-disease map of 1,859 connections that highlights strong cross-disease biological convergence. This proteo-genomic map provides a framework to 1) connect etiologically related diseases, 2) provide biological context for new or emerging disorders, and 3) integrate different biological domains to establish mechanisms for known gene-disease links. Our results identify proteo-genomic connections within and between diseases and establish the value of cis-protein variants for annotation of likely causal disease genes at GWAS loci, addressing a major barrier for experimental validation and clinical translation of genetic discoveries.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter Genetic Influences; Metaanalysis; Accumulation; Architecture; Association; Vitronectin; Atlas; Rspo1; Age
Sprache englisch
Veröffentlichungsjahr 2021
HGF-Berichtsjahr 2021
ISSN (print) / ISBN 0036-8075
e-ISSN 1095-9203
Zeitschrift Science
Quellenangaben Band: 374, Heft: 6569, Seiten: , Artikelnummer: eabj1541 Supplement: ,
Verlag American Association for the Advancement of Science (AAAS)
Verlagsort 1200 New York Ave, Nw, Washington, Dc 20005 Usa
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Computational Biology (ICB)
POF Topic(s) 30205 - Bioengineering and Digital Health
Forschungsfeld(er) Enabling and Novel Technologies
PSP-Element(e) G-503891-001
Förderungen Gates Fellowship
UKRI/NIHR Strategic Priorities Award in Multimorbidity Research for the Multimorbidity Mechanism and Therapeutics Research Collaborative
NIH
NIH/NIA
National Institute on Aging
Wellcome Trust
Cambridge Trust
Medical Research Council
DOI 10.1126/science.abj1541
WOS ID WOS:000717915400027
Scopus ID 85118945011
PubMed ID 34648354
Erfassungsdatum 2021-11-04
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