| Title: |
Mapping the proteo-genomic convergence of human diseases |
| Authors: |
Pietzner, M; Wheeler, E; Carrasco-Zanini, J; Cortes, A; Koprulu, M; Woerheide, MA; Oerton, E; Cook, J; Stewart, ID; Kerrison, ND; Luan, J; Raffler, J; Arnold, M; Arlt, W; O'Rahilly, S; Kastenmueller, G; Gamazon, ER; Hingorani, AD; Scott, RA; Wareham, NJ; Langenberg, C |
| Source: |
Science , 374 (6569) , Article eabj1541. (2021) |
| Publisher Information: |
AMER ASSOC ADVANCEMENT SCIENCE |
| Publication Year: |
2021 |
| Collection: |
University College London: UCL Discovery |
| Description: |
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. |
| Document Type: |
article in journal/newspaper |
| File Description: |
text |
| Language: |
English |
| Relation: |
https://discovery.ucl.ac.uk/id/eprint/10141879/7/Hingorani_abj1541_CombinedPDF_v4_extracted.pdf; https://discovery.ucl.ac.uk/id/eprint/10141879/ |
| Availability: |
https://discovery.ucl.ac.uk/id/eprint/10141879/7/Hingorani_abj1541_CombinedPDF_v4_extracted.pdf; https://discovery.ucl.ac.uk/id/eprint/10141879/ |
| Rights: |
open |
| Accession Number: |
edsbas.E033DA70 |
| Database: |
BASE |