ArticleScientific reports2018
A mega-analysis of expression quantitative trait loci (eQTL) provides insight into the regulatory architecture of gene expression variation in liver.
Article in Scientific reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers, 2 of them syntheses that pooled it.
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Who cites it
41 citing papers in PubMed, 2 syntheses or guidelines pooled it, 66 citations in OpenAlex.
- Optimized summary-statistic-based single-cell eQTL meta-analysis.Scientific reports · 2025Pooled it
- Liver eQTL meta-analysis illuminates potential molecular mechanisms of cardiometabolic traits.American journal of human genetics · 2024Pooled it
- Alzheimer's disease target and drug discovery by leveraging multiomics and electronic health data.Nature neuroscience · 2026Article
- Foundation model reveals the shared organization of transcription and topologically associating domains.Cell systems · 2026Article
- Genetic evidence and cross-species functional characterization implicateProceedings of the National Academy of Sciences of the United States of America · 2026Article
- Systematic Analysis of Plasma-Derived Extracellular Vesicle-Enriched Samples in Age-Related Macular Degeneration Reveals Oxidative Stress Linked to Altered Lipid and Protein Profiles.Journal of extracellular biology · 2026Article
- Systematically identification of survival-associated eQTLs in a Japanese kidney cancer cohort.PLoS genetics · 2025Article
- Integrative Analysis of eQTL Genes Reveals Key Biomarkers and Mechanisms for Early Diagnosis of Pancreatic Ductal Adenocarcinoma.Cancer informatics · 2025Article
- Levels of the HtrA1 Protein in Serum and Vitreous Humor Are Independent of Genetic Risk for Age-Related Macular Degeneration at the 10q26 Locus.Investigative ophthalmology & visual science · 2024Article
- Transcriptome-wide association study of the plasma proteome reveals cis and trans regulatory mechanisms underlying complex traits.American journal of human genetics · 2024Article
- Genetics and epidemiology of mutational barcode-defined clonal hematopoiesis.Nature genetics · 2023Article
- Insights into the liver-eyes connections, from epidemiological, mechanical studies to clinical translation.Journal of translational medicine · 2023Review
- Robust identification of regulatory variants (eQTLs) using a differential expression framework developed for RNA-sequencing.Journal of animal science and biotechnology · 2023Article
- Genetic variability shapes the alternative pathway complement activity and predisposition to complement-related diseases.Immunological reviews · 2023Review
- Human variation in population-wide gene expression data predicts gene perturbation phenotype.iScience · 2022Article
- The Medaka Inbred Kiyosu-Karlsruhe (MIKK) panel.Genome biology · 2022Article
- Chromatin accessibility and gene expression during adipocyte differentiation identify context-dependent effects at cardiometabolic GWAS loci.PLoS genetics · 2021Article
- Article
- Common haplotypes at the CFH locus and low-frequency variants in CFHR2 and CFHR5 associate with systemic FHR concentrations and age-related macular degeneration.American journal of human genetics · 2021Article
- GWAS of serum ALT and AST reveals an association of SLC30A10 Thr95Ile with hypermanganesemia symptoms.Nature communications · 2021Article
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Authors and funding
9 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Genome-wide association studies (GWAS) have identified numerous genetic variants in the human genome associated with diseases and traits. Nevertheless, for most loci the causative variant is still unknown. Expression quantitative trait loci (eQTL) in disease relevant tissues is an excellent approach to correlate genetic association with gene expression. While liver is the primary site of gene transcription for two pathways relevant to age-related macular degeneration (AMD), namely the complement system and cholesterol metabolism, we explored the contribution of AMD associated variants to modulate liver gene expression. We extracted publicly available data and computed the largest eQTL data set for liver tissue to date. Genotypes and expression data from all studies underwent rigorous quality control. Subsequently, Matrix eQTL was used to identify significant local eQTL. In total, liver samples from 588 individuals revealed 202,489 significant eQTL variants affecting 1,959 genes (Q-Value < 0.001). In addition, a further 101 independent eQTL signals were identified in 93 of the 1,959 eQTL genes. Importantly, our results independently reinforce the notion that high density lipoprotein metabolism plays a role in AMD pathogenesis. Taken together, our study generated a first comprehensive map reflecting the genetic regulatory landscape of gene expression in liver.
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