Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression

U Võsa, A Claringbould, HJ Westra, MJ Bonder… - Nature …, 2021 - nature.com
Trait-associated genetic variants affect complex phenotypes primarily via regulatory
mechanisms on the transcriptome. To investigate the genetics of gene expression, we …

Single-cell RNA sequencing identifies celltype-specific cis-eQTLs and co-expression QTLs

MGP Van Der Wijst, H Brugge, DH De Vries, P Deelen… - Nature …, 2018 - nature.com
Genome-wide association studies have identified thousands of genetic variants that are
associated with disease. Most of these variants have small effect sizes, but their downstream …

Conditional eQTL analysis reveals allelic heterogeneity of gene expression

R Jansen, JJ Hottenga, MG Nivard… - Human molecular …, 2017 - academic.oup.com
In recent years, multiple eQTL (expression quantitative trait loci) catalogs have become
available that can help understand the functionality of complex trait-related single nucleotide …

Unraveling the polygenic architecture of complex traits using blood eQTL metaanalysis

U Võsa, A Claringbould, HJ Westra, MJ Bonder… - BioRxiv, 2018 - biorxiv.org
While many disease-associated variants have been identified through genome-wide
association studies, their downstream molecular consequences remain unclear. To identify …

Using an atlas of gene regulation across 44 human tissues to inform complex disease-and trait-associated variation

ER Gamazon, AV Segrè, M Van De Bunt, X Wen… - Nature …, 2018 - nature.com
We apply integrative approaches to expression quantitative loci (eQTLs) from 44 tissues
from the Genotype-Tissue Expression project and genome-wide association study data …

Dissecting the genetics of the human transcriptome identifies novel trait-related trans-eQTLs and corroborates the regulatory relevance of non-protein coding loci

H Kirsten, H Al-Hasani, L Holdt, A Gross… - Human molecular …, 2015 - academic.oup.com
Genetics of gene expression (eQTLs or expression QTLs) has proved an indispensable tool
for understanding biological pathways and pathomechanisms of trait-associated SNPs …

Identification of context-dependent expression quantitative trait loci in whole blood

DV Zhernakova, P Deelen, M Vermaat, M Van Iterson… - Nature …, 2017 - nature.com
Genetic risk factors often localize to noncoding regions of the genome with unknown effects
on disease etiology,. Expression quantitative trait loci (eQTLs) help to explain the regulatory …

The single-cell eQTLGen consortium

MGP van der Wijst, DH de Vries, HE Groot, G Trynka… - elife, 2020 - elifesciences.org
In recent years, functional genomics approaches combining genetic information with bulk
RNA-sequencing data have identified the downstream expression effects of disease …

[PDF][PDF] Functional architectures of local and distal regulation of gene expression in multiple human tissues

X Liu, HK Finucane, A Gusev, G Bhatia, S Gazal… - The American Journal of …, 2017 - cell.com
Genetic variants that modulate gene expression levels play an important role in the etiology
of human diseases and complex traits. Although large-scale eQTL mapping studies routinely …

[HTML][HTML] Trans-eQTLs Reveal That Independent Genetic Variants Associated with a Complex Phenotype Converge on Intermediate Genes, with a Major Role for the …

RSN Fehrmann, RC Jansen, JH Veldink… - PLoS …, 2011 - journals.plos.org
For many complex traits, genetic variants have been found associated. However, it is still
mostly unclear through which downstream mechanism these variants cause these …