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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 DOI
Open Access Green möglich sobald Postprint bei der ZB eingereicht worden ist.

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
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
Förderungen Gates Fellowship
UKRI/NIHR Strategic Priorities Award in Multimorbidity Research for the Multimorbidity Mechanism and Therapeutics Research Collaborative
National Institute on Aging
Wellcome Trust
Cambridge Trust
Medical Research Council