Mapping the proteo-genomic convergence of human diseases.
Science
; 374(6569): eabj1541, 2021 Nov 12.
Article
in English
| MEDLINE | ID: covidwho-1526448
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.
Full text:
Available
Collection:
International databases
Database:
MEDLINE
Main subject:
Blood Proteins
/
Proteins
/
Genome, Human
/
Disease
/
Proteome
/
Genomics
Type of study:
Etiology study
/
Prognostic study
/
Randomized controlled trials
Topics:
Variants
Limits:
Female
/
Humans
/
Male
Language:
English
Journal:
Science
Year:
2021
Document Type:
Article
Affiliation country:
Science.abj1541
Similar
MEDLINE
...
LILACS
LIS