ArticleNature genetics2024
Statistically and functionally fine-mapped blood eQTLs and pQTLs from 1,405 humans reveal distinct regulation patterns and disease relevance.
Article in Nature genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 29 papers, 1 of them a synthesis that pooled it.
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Who cites it
29 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Contribution of germline and somatic mutations to risk of neuromyelitis optica spectrum disorder.Cell genomics · 2025Pooled it
- Genetic Regulation of DNA Methylation and Its Mediating Role in Blood Pressure: A Genome-Wide Twin Study.MedComm · 2026Article
- Cataract GWAS meta-analysis and multi-omics Mendelian randomisation inform disease mechanisms and candidate target prioritisation.EBioMedicine · 2026Article
- Integrative Proteome-Wide Mendelian Randomization and Multi-Omics Analysis Identify ADM and CFH as Candidate Genes for Osteoarthritis.Biomedicines · 2026Article
- From Genome-Wide Association Study Signal to Mechanism in Rheumatoid Arthritis: Lessons From a Single Risk Locus.Arthritis & rheumatology (Hoboken, N.J.) · 2026Article
- Proteogenomics in human populations.Nature reviews. Genetics · 2026Review
- Nanoparticle-enriched mass spectrometry proteomics in British South Asians identifies links between genetic variants, plasma protein levels and disease risk.Nature genetics · 2026Article
- Genetic influences on haematopoiesis.Nature reviews. Genetics · 2026Review
- A dish-to-biobank framework links β-cell nutrient-stress programs to genetic and dietary risk for Type 2 Diabetes.bioRxiv : the preprint server for biology · 2026Article
- Cross-ancestry proteome-wide Mendelian randomization prioritizes 12 plasma protein candidates for breast cancer risk.medRxiv : the preprint server for health sciences · 2026Article
- Article
- Molecular systems, human noncoding sequence variants, and blood pressure.Physiological reviews · 2026Review
- Understanding Neurodegenerative Diseases From the -Omics Perspective: Lessons Learnt.Annals of neurology · 2026Review
- Article
- Unravelling the molecular mechanisms causal to type 2 diabetes across global populations and disease-relevant tissues.Nature metabolism · 2026Article
- Cross-ancestry comparison of aptamer and antibody protein measures.Nature communications · 2026Article
- Simultaneous epigenomic profiling and regulatory activity measurement using e2MPRA.Nature communications · 2026Article
- No evidence for genetic role of the tumor necrosis factor pathway in Parkinson's disease.NPJ Parkinson's disease · 2025Article
- Identification of causal plasma proteins and targeted therapy for primary hepatic carcinoma via proteome-wide Mendelian randomization.Communications biology · 2025Article
- A machine-learning framework to characterize functional disease architectures and prioritize disease variants.medRxiv : the preprint server for health sciences · 2025Article
Corrections and comments
- Erratum issued
Authors and funding
32 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Studying the genetic regulation of protein expression (through protein quantitative trait loci (pQTLs)) offers a deeper understanding of regulatory variants uncharacterized by mRNA expression regulation (expression QTLs (eQTLs)) studies. Here we report cis-eQTL and cis-pQTL statistical fine-mapping from 1,405 genotyped samples with blood mRNA and 2,932 plasma samples of protein expression, as part of the Japan COVID-19 Task Force (JCTF). Fine-mapped eQTLs (n = 3,464) were enriched for 932 variants validated with a massively parallel reporter assay. Fine-mapped pQTLs (n = 582) were enriched for missense variations on structured and extracellular domains, although the possibility of epitope-binding artifacts remains. Trans-eQTL and trans-pQTL analysis highlighted associations of class I HLA allele variation with KIR genes. We contrast the multi-tissue origin of plasma protein with blood mRNA, contributing to the limited colocalization level, distinct regulatory mechanisms and trait relevance of eQTLs and pQTLs. We report a negative correlation between ABO mRNA and protein expression because of linkage disequilibrium between distinct nearby eQTLs and pQTLs.
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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.