ArticleOncotarget2017
Identification of potential genetic causal variants for rheumatoid arthritis by whole-exome sequencing.
Article in Oncotarget, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 43 citations in OpenAlex.
- Assessment of XCI skewing and demonstration of XCI escape region based on single-cell RNA sequencing: comparison between female Grave's disease and control.BMC molecular and cell biology · 2025Article
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- Mining Autoimmune-Disorder-Linked Molecular-Mimicry Candidates inMicroorganisms · 2023Article
- Multi-omics profiling reveals potential alterations in rheumatoid arthritis with different disease activity levels.Arthritis research & therapy · 2023Article
- Identification of potential pathogenic genes for severe aplastic anemia by whole-exome sequencing.Journal of clinical laboratory analysis · 2022Article
- Missense variant in interleukin-6 signal transducer identified as susceptibility locus for rheumatoid arthritis in Chinese patients.Archives of rheumatology · 2021Article
- MOSES: A New Approach to Integrate Interactome Topology and Functional Features for Disease Gene Prediction.Genes · 2021Article
- CircASH2L facilitates tumor-like biologic behaviours and inflammation of fibroblast-like synoviocytes via miR-129-5p/HIPK2 axis in rheumatoid arthritis.Journal of orthopaedic surgery and research · 2021Article
- Location, location, location: how the tissue microenvironment affects inflammation in RA.Nature reviews. Rheumatology · 2021Review
- Latin American Genes: The Great Forgotten in Rheumatoid Arthritis.Journal of personalized medicine · 2020Review
- A Microarray Study of Articular Cartilage in Relation to Obesity and Severity of Knee Osteoarthritis.Cartilage · 2020Article
- Genetic Polymorphisms Associated with Rheumatoid Arthritis Development and Antirheumatic Therapy Response.International journal of molecular sciences · 2020Review
- Thymoma Associated Myasthenia Gravis (TAMG): Differential Expression of Functional Pathways in Relation to MG Status in Different Thymoma Histotypes.Frontiers in immunology · 2020Article
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Authors and funding
12 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Rheumatoid arthritis (RA) is a highly prevalent chronic autoimmune disease. However, genetic and environmental factors involved in RA pathogenesis are still remained largely unknown. To identify the genetic causal variants underlying pathogenesis and disease progression of RA patients, we undertook the first comprehensive whole-exome sequencing (WES) study in a total of 124 subjects including 58 RA cases and 66 healthy controls in Han Chinese population. We identified 378 novel genes that were enriched with deleterious variants in RA patients using a gene burden test. The further functional effects of associated genetic genes were classified and assessed, including 21 newly identified genes that were involved in the extracellular matrix (ECM)-receptor interaction, protein digestion and absorption, focal adhesion and glycerophospholipid metabolism pathways relevant to RA pathogenesis. Moreover, six pathogenic variants were investigated and structural analysis predicted their potentially functional alteration by homology modeling. Importantly, five novel and rare homozygous variants (
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