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Genetic analysis of blood molecular phenotypes reveals common properties in the regulatory networks affecting complex traits
Population Health and Genomics, Ninewells Hospital and Medical School, University of Dundee, Dundee, DD1 9SY, United Kingdom.
KTH, Centres, Science for Life Laboratory, SciLifeLab. KTH, School of Engineering Sciences in Chemistry, Biotechnology and Health (CBH), Protein Science, Affinity Proteomics.ORCID iD: 0000-0001-8603-8293
KTH, School of Engineering Sciences in Chemistry, Biotechnology and Health (CBH), Protein Science, Affinity Proteomics. KTH, Centres, Science for Life Laboratory, SciLifeLab.ORCID iD: 0000-0002-5788-7744
KTH, Centres, Science for Life Laboratory, SciLifeLab. KTH, School of Engineering Sciences in Chemistry, Biotechnology and Health (CBH), Protein Science, Systems Biology.ORCID iD: 0000-0002-4858-8056
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Number of Authors: 1542023 (English)In: Nature Communications, E-ISSN 2041-1723, Vol. 14, no 1, article id 5062Article in journal (Refereed) Published
Abstract [en]

We evaluate the shared genetic regulation of mRNA molecules, proteins and metabolites derived from whole blood from 3029 human donors. We find abundant allelic heterogeneity, where multiple variants regulate a particular molecular phenotype, and pleiotropy, where a single variant associates with multiple molecular phenotypes over multiple genomic regions. The highest proportion of share genetic regulation is detected between gene expression and proteins (66.6%), with a further median shared genetic associations across 49 different tissues of 78.3% and 62.4% between plasma proteins and gene expression. We represent the genetic and molecular associations in networks including 2828 known GWAS variants, showing that GWAS variants are more often connected to gene expression in trans than other molecular phenotypes in the network. Our work provides a roadmap to understanding molecular networks and deriving the underlying mechanism of action of GWAS variants using different molecular phenotypes in an accessible tissue.

Place, publisher, year, edition, pages
Springer Nature , 2023. Vol. 14, no 1, article id 5062
National Category
Medical Genetics Genetics Hematology
Identifiers
URN: urn:nbn:se:kth:diva-334935DOI: 10.1038/s41467-023-40569-3ISI: 001053537800021PubMedID: 37604891Scopus ID: 2-s2.0-85168454423OAI: oai:DiVA.org:kth-334935DiVA, id: diva2:1792929
Note

QC 20230830

Available from: 2023-08-30 Created: 2023-08-30 Last updated: 2024-03-18Bibliographically approved

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Hong, Mun-GwanDale, MatildaUhlén, MathiasSchwenk, Jochen M.

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