Science (American Association for the Advancement of Science), 2021-11, Vol.374 (6569), p.eabj1541-eabj1541
- 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
2021
Details
- Autor(en) / Beteiligte
- 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
- Titel
- Mapping the proteo-genomic convergence of human diseases
- Ist Teil von
- Science (American Association for the Advancement of Science), 2021-11, Vol.374 (6569), p.eabj1541-eabj1541
- Ort / Verlag
- United States: The American Association for the Advancement of Science
- Erscheinungsjahr
- 2021
- Link zum Volltext
- Quelle
- Alma/SFX Local Collection
- Beschreibungen/Notizen
- 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.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 0036-8075eISSN: 1095-9203DOI: 10.1126/science.abj1541Titel-ID: cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9904207
- Format
- –
- Schlagworte
- Aging, Alternative Splicing, Alzheimer's disease, Annotations, Biology, Blood Proteins - genetics, Blood Proteins - metabolism, Calculi, Cholesterol, Connective tissue, Connective Tissue Diseases - genetics, Connective tissues, Context, Convergence, COVID-19, COVID-19 - genetics, Crystallization, Disease - etiology, Disease - genetics, Disorders, Drug Development, Endometrial cancer, Endometrium, Etiology, Extracellular matrix, Female, Fibrosis, Gallstones - genetics, Gene expression, Gene mapping, Genes, Genetic Association Studies, Genetic diversity, Genetic variance, Genetic Variation, Genome, Human, Genome-Wide Association Study, Genomes, Genomics, Genotype & phenotype, Humans, Internet, Internet resources, Interrogation, Male, Matrix protein, Medical research, Mode of action, Mutation, Neurodegenerative diseases, Peptide mapping, Phenotype, Phenotypes, Plasma, Plasma proteins, Proteins, Proteins - genetics, Proteins - metabolism, Proteome, Proteomes, Proteomics, Quantitative Trait Loci, Sex Characteristics, Splicing, Therapeutic targets, Tissues