Pietzner, M;
Wheeler, E;
Carrasco-Zanini, J;
Cortes, A;
Koprulu, M;
Woerheide, MA;
Oerton, E;
... Langenberg, C; + view all
(2021)
Mapping the proteo-genomic convergence of human diseases.
Science
, 374
(6569)
, Article eabj1541. 10.1126/science.abj1541.
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Abstract
Characterization of the genetic regulation of proteins is essential for understanding disease etiology and developing therapies. We identified 10,674 genetic associations for 3892 plasma proteins to create a cis-anchored gene-protein-disease map of 1859 connections that highlights strong cross-disease biological convergence. This proteo-genomic map provides a framework to connect etiologically related diseases, to provide biological context for new or emerging disorders, and to 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 loci identified in genome-wide association studies, thereby addressing a major barrier to experimental validation and clinical translation of genetic discoveries.
| Type: | Article |
|---|---|
| Title: | Mapping the proteo-genomic convergence of human diseases |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1126/science.abj1541 |
| Publisher version: | https://doi.org/10.1126/science.abj1541 |
| Language: | English |
| Additional information: | This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions. |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Cardiovascular Science |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10141879 |
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