ArticleAnnals of the rheumatic diseases2024
Expression quantitative trait loci analysis in rheumatoid arthritis identifies tissue specific variants associated with severity and outcome.
Article in Annals of the rheumatic diseases, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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Who cites it
8 citing papers in PubMed, 17 citations in OpenAlex.
- Charting immune variation through genetics and single-cell genomics.GigaScience · 2026Article
- Article
- Mutually reinforcing relationship between Sjögren's syndrome and lung adenocarcinoma: insights from Mendelian randomisation, single-cell, and transcriptomic analyses.Frontiers of medicine · 2025Article
- Current state and future directions of basic research in rheumatoid arthritis.Journal of rheumatic diseases · 2025Review
- T Cell Dysregulation in Rheumatoid Arthritis: from Genetic Susceptibility to Established Disease.Current rheumatology reports · 2025Review
- VOPP1 as a Novel Susceptibility Gene in Rheumatoid Arthritis: Insights Into Its Mechanisms From Mendelian Randomization and Experimental Validation.Journal of inflammation research · 2025Article
- EQTL analyses are a formidable tool to define the immunogenetic mechanisms underpinning Spondyloarthropathies.Frontiers in immunology · 2025Article
- Distinct mucosal endotypes as initiators and drivers of rheumatoid arthritis.Nature reviews. Rheumatology · 2024Review
Corrections and comments
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Authors and funding
12 authors at 3 institutions in 1 country.
Funding
Abstract
objectiveGenome-wide association studies have successfully identified more than 100 loci associated with susceptibility to rheumatoid arthritis (RA). However, our understanding of the functional effects of genetic variants in causing RA and their effects on disease severity and response to treatment remains limited.
methodsIn this study, we conducted expression quantitative trait locus (eQTL) analysis to dissect the link between genetic variants and gene expression comparing the disease tissue against blood using RNA-Sequencing of synovial biopsies (n=85) and blood samples (n=51) from treatment-naïve patients with RA from the Pathobiology of Early Arthritis Cohort.
resultsThis identified 898 eQTL genes in synovium and genes loci in blood, with 232 genes in common to both synovium and blood, although notably many eQTL were tissue specific. Examining the HLA region, we uncovered a specific eQTL at
conclusionsThis analysis highlights the need to explore functional consequences of genetic associations in disease tissue.
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Registered trials
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