ArticleRMD open2022
Novel insight into the aetiology of rheumatoid arthritis gained by a cross-tissue transcriptome-wide association study.
Article in RMD open, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 2 of them syntheses that pooled it.
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Who cites it
32 citing papers in PubMed, 2 syntheses or guidelines pooled it, 50 citations in OpenAlex.
- Identification of new overlapping and disease-specific genetic risk factors for rheumatoid arthritis and radiographic axial spondyloarthritis: a meta-analysis of three large European populations and functional characterization.Frontiers in immunology · 2026Pooled it
- Identification of genetic variants that impact gene co-expression relationships using large-scale single-cell data.Genome biology · 2023Pooled it
- Integrative TWAS and multi-omics analyses prioritize HSPE1 as a candidate risk gene for bipolar disorder with immune cell-specific regulatory evidence.European archives of psychiatry and clinical neuroscience · 2026Article
- Integrative Multi-omics Analysis for Prioritization of Candidate Genes in Polycystic Ovary Syndrome.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2026Article
- eQTL analysis: A bridge from genome to mechanism.Genes & diseases · 2026Review
- Cross-Tissue Transcriptome-Wide Association Study and TWAS-FOCUS Fine-Mapping Reveal Novel Susceptibility Genes for Primary Open-Angle Glaucoma.Translational vision science & technology · 2026Article
- scTWAS: a powerful statistical framework for single-cell transcriptome-wide association studies.Nature communications · 2026Article
- Genetic insights and mechanistic parallels in gestational diabetes mellitus and type 2 diabetes.Nature communications · 2026Article
- Integrating human plasma proteomes with genome-wide association data implicates novel proteins and drug targets for rheumatoid arthritis.Clinical proteomics · 2026Article
- TWAS atlas 2.0: an updated data resource for transcriptome-wide association studies.Nucleic acids research · 2026Article
- A Cross-Tissue Transcriptome Association Study Revealed Novel Susceptibility Genes for Chronic Obstructive Pulmonary Disease.International journal of chronic obstructive pulmonary disease · 2026Article
- Investigating the relationship between osteoporosis and rheumatoid arthritis: prospective cohort study and genetic analyses.Therapeutic advances in musculoskeletal disease · 2026Article
- scTWAS: A powerful statistical framework for single-cell transcriptome-wide association studies.Research square · 2025Article
- The Role of Solute Carriers in the Metabolic Reprogramming of Skin Diseases.Clinical reviews in allergy & immunology · 2025Review
- Cross-Tissue Transcriptome-Wide Association Study Identifies Novel Genes Associated With POAG.Investigative ophthalmology & visual science · 2025Article
- A cross-tissue transcriptome-wide association study identifies novel susceptibility genes for atrial fibrillation.Journal of arrhythmia · 2025Article
- Cross-tissue transcriptome-wide association study reveals novel psoriasis susceptibility genes.Journal of translational autoimmunity · 2025Article
- The identification of blood-derived response eQTLs reveals complex effects of regulatory variants on inflammatory and infectious disease risk.PLoS genetics · 2025Article
- A Multi-omic study integrating plasma protein, multiple tissues, and single-cell identifies RNASET2 as a key gene for lung cancer.Discover oncology · 2025Article
- VOPP1 as a Novel Susceptibility Gene in Rheumatoid Arthritis: Insights Into Its Mechanisms From Mendelian Randomization and Experimental Validation.Journal of inflammation research · 2025Article
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAlthough genome-wide association studies (GWASs) have identified more than 100 loci associated with rheumatoid arthritis (RA) susceptibility, the causal genes and biological mechanisms remain largely unknown.
methodsA cross-tissue transcriptome-wide association study (TWAS) using the unified test for molecular signaturestool was performed to integrate GWAS summary statistics from 58 284 individuals (14 361 RA cases and 43 923 controls) with gene-expression matrix in the Genotype-Tissue Expression project. Subsequently, a single tissue by using FUSION software was conducted to validate the significant associations. We also compared the TWAS with different gene-based methodologies, including Summary Data Based Mendelian Randomization (SMR) and Multimarker Analysis of Genomic Annotation (MAGMA). Further in silico analyses (conditional and joint analysis, differential expression analysis and gene-set enrichment analysis) were used to deepen our understanding of genetic architecture and comorbidity aetiology of RA.
resultsWe identified a total of 47 significant candidate genes for RA in both cross-tissue and single-tissue test after multiple testing correction, of which 40 TWAS-identified genes were verified by SMR or MAGMA. Among them, 13 genes were situated outside of previously reported significant loci by RA GWAS. Both TWAS-based and MAGMA-based enrichment analyses illustrated the shared genetic determinants among autoimmune thyroid disease, asthma, type I diabetes mellitus and RA.
conclusionOur study unveils 13 new candidate genes whose predicted expression is associated with risk of RA, providing new insights into the underlying genetic architecture of RA.
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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.