Mapping the proteo-genomic convergence of human diseases

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-disea...

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Vydáno v:Science (American Association for the Advancement of Science) Ročník 374; číslo 6569; s. eabj1541
Hlavní autoři: Pietzner, Maik, Wheeler, Eleanor, Carrasco-Zanini, Julia, Cortes, Adrian, Koprulu, Mine, Wörheide, Maria A, Oerton, Erin, Cook, James, Stewart, Isobel D, Kerrison, Nicola D, Luan, Jian'an, Raffler, Johannes, Arnold, Matthias, Arlt, Wiebke, O'Rahilly, Stephen, Kastenmüller, Gabi, Gamazon, Eric R, Hingorani, Aroon D, Scott, Robert A, Wareham, Nicholas J, Langenberg, Claudia
Médium: Journal Article
Jazyk:angličtina
Vydáno: United States 12.11.2021
Témata:
Aging
Alternative Splicing
Blood Proteins - genetics
Blood Proteins - metabolism
Connective Tissue Diseases - genetics
COVID-19 - genetics
Disease - etiology
Disease - genetics
Drug Development
Female
Gallstones - genetics
Genetic Association Studies
Genetic Variation
Genome, Human
Genome-Wide Association Study
Genomics
Humans
Internet
Male
Phenotype
Proteins - genetics
Proteins - metabolism
Proteome
Quantitative Trait Loci
Sex Characteristics
ISSN:1095-9203, 1095-9203
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Shrnutí: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.
Bibliografie:ObjectType-Article-1
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ISSN:1095-9203
1095-9203
DOI:10.1126/science.abj1541