The Pathophysiological Significance of Fibulin-3

Journal article

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

Authors: Livingstone, I; Uversky, VN; Furniss, D; Wiberg, A

• Publication status: Published
• Peer review status: Peer reviewed
• Publisher: MDPI
• Journal: Biomolecules
• Volume: 10
• Issue: 9
• Pages: 1294-1294
• Publication date: 2020-09-08
• DOI: 10.3390/biom10091294
• EISSN: 2218-273X
• ISSN: 2218-273X
• Language: English
• Keywords: Fibulin; Matricellular protein