ArticleNature genetics2025
The contribution of genetic determinants of blood gene expression and splicing to molecular phenotypes and health outcomes.
Article in Nature genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 1 of them a synthesis that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
26 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Pooled it
- Integrative post-GWAS analysis prioritizes immune regulatory pathways and candidate effector signals in systemic lupus erythematosus.Journal of translational autoimmunity · 2026Article
- Proteogenomics in human populations.Nature reviews. Genetics · 2026Review
- Potential role of Akkermansia massiliensis in multiple sclerosis protection by the FcRL3 gene.Genes and immunity · 2026Article
- Genetic influences on haematopoiesis.Nature reviews. Genetics · 2026Review
- Reduced LACTB expression in myeloid cells is associated with elevated succinylcarnitine and reduced Alzheimer's disease risk.Research square · 2026Article
- Ultra-fast genetic colocalisation across millions of association signals.PLoS genetics · 2026Article
- Integrative Proteomic Profiling of Blood Pressure and Hypertension.Hypertension (Dallas, Tex. : 1979) · 2026Article
- GWAS Meta-analysis Identifies Novel Associated Loci and Points to Causal Tissues in Central Serous Chorioretinopathy.medRxiv : the preprint server for health sciences · 2026Article
- An interpretable deep learning biomarker for prognostication and prediction of adjuvant chemotherapy benefit in gastric cancer.NPJ precision oncology · 2026Article
- Article
- Article
- Higher eQTL power reveals signals that boost GWAS colocalization.American journal of human genetics · 2026Article
- Integrating natural and engineered genetic variations to decode regulatory influence on blood traits.Cell reports · 2026Article
- Allele-specific splicing modulates protein isoforms and Alzheimer's risk.bioRxiv : the preprint server for biology · 2026Article
- Article
- Parallel Single-Tissue Summary-Data Mendelian Randomization and Functional Validation Identify the ARRDC1 Promoter SNP rs4494021 as a Genetic Marker Associated with Anxiety Disorders.Neuropsychiatric disease and treatment · 2026Article
- Alternative Splicing: Molecular Mechanisms, Biological Functions, Diseases, and Potential Therapeutic Targets.MedComm · 2025Review
- Large-scale causal discovery using interventional data sheds light on gene network structure in k562 cells.Nature communications · 2025Article
- Higher eQTL power reveals signals that boost GWAS colocalization.bioRxiv : the preprint server for biology · 2025Article
Corrections and comments
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Authors and funding
32 authors.
Funding
Abstract
The biological mechanisms through which most nonprotein-coding genetic variants affect disease risk are unknown. To investigate gene-regulatory mechanisms, we mapped blood gene expression and splicing quantitative trait loci (QTLs) through bulk RNA sequencing in 4,732 participants and integrated protein, metabolite and lipid data from the same individuals. We identified cis-QTLs for the expression of 17,233 genes and 29,514 splicing events (in 6,853 genes). Colocalization analyses revealed 3,430 proteomic and metabolomic traits with a shared association signal with either gene expression or splicing. We quantified the relative contribution of the genetic effects at loci with shared etiology, observing 222 molecular phenotypes significantly mediated by gene expression or splicing. We uncovered gene-regulatory mechanisms at disease loci with therapeutic implications, such as WARS1 in hypertension, IL7R in dermatitis and IFNAR2 in COVID-19. Our study provides an open-access resource on the shared genetic etiology across transcriptional phenotypes, molecular traits and health outcomes in humans ( https://IntervalRNA.org.uk ).
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.