ArticleScientific reports2019
Association of NCF1 polymorphism with systemic lupus erythematosus and systemic sclerosis but not with ANCA-associated vasculitis in a Japanese population.
Article in Scientific reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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18 citing papers in PubMed, 43 citations in OpenAlex.
- Orofacial granulomatosis in pediatric Crohn's disease: clinical outcomes and genetic background in the era of biologics: a retrospective study in Japan.Intestinal research · 2026Article
- Macrophages Unmasked: Their Pivotal Role in Driving Atherosclerosis in Systemic Lupus Erythematosus.Clinical reviews in allergy & immunology · 2025Review
- Human hypofunctional NCF1 variants promote pulmonary fibrosis in the bleomycin-induced mouse model and patients with systemic sclerosis via expansion of SPP1Annals of the rheumatic diseases · 2025Article
- Risk Allele rs117026326-Mediated Alternative Splicing of GTF2I Promotes B Cell Proliferation in Primary Sjögren's Syndrome.Journal of immunology research · 2025Article
- Low C4A copy numbers and higher HERV gene insertion contributes to increased risk of SLE, with absence of association with disease phenotype and disease activity.Immunologic research · 2024Article
- Article
- Redox Regulation of LAT Enhances T Cell-Mediated Inflammation.Antioxidants (Basel, Switzerland) · 2024Article
- ChIP-seq analysis found IL21R, a target gene of GTF2I-the susceptibility gene for primary biliary cholangitis in Chinese Han.Hepatology international · 2024Article
- The association of APOH and NCF1 polymorphisms on susceptibility to recurrent pregnancy loss in women with antiphospholipid syndrome.Journal of assisted reproduction and genetics · 2023Article
- Multi-omics profiling reveals potential alterations in rheumatoid arthritis with different disease activity levels.Arthritis research & therapy · 2023Article
- Genetic dissection ofRMD open · 2023Article
- Meta-Analysis and Systematic Review of the Association between a HypoactiveAntioxidants (Basel, Switzerland) · 2022Review
- The role of neutrophils in rheumatic disease-associated vascular inflammation.Nature reviews. Rheumatology · 2022Review
- Correlations of FUT3 gene polymorphisms with colon polyps.Cell cycle (Georgetown, Tex.) · 2022Article
- Comment on: homozygous variant p. Arg90His in NCF1 is associated with early-onset interferonopathy: a case report.Pediatric rheumatology online journal · 2021Article
- Cellular and molecular mechanisms breaking immune tolerance in inborn errors of immunity.Cellular & molecular immunology · 2021Review
- Homozygous variant p. Arg90His in NCF1 is associated with early-onset Interferonopathy: a case report.Pediatric rheumatology online journal · 2021Article
- Dermatan Sulfate Is a Potential Regulator of IgHFrontiers in immunology · 2021Article
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42 authors at 20 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
Genome-wide association studies of systemic lupus erythematosus (SLE) in Chinese and Korean populations demonstrated strong association of single nucleotide polymorphisms (SNPs) located in the GTF2I-NCF1 region, rs73366469 (GTF2I), rs117026326 (GTF2I), rs80346167(GTF2IRD1) and rs201802880 (NCF1). This region has also been associated with susceptibility to Sjögren syndrome and rheumatoid arthritis; however, association studies with systemic sclerosis (SSc) and ANCA-associated vasculitis (AAV) have not been reported. Here we made an attempt to confirm their associations with SLE in the Japanese population, to find the primarily associated SNP, and to investigate whether these SNPs are also associated with susceptibility to SSc and AAV. By genotyping these four SNPs on 842 SLE, 467 SSc, 477 AAV patients and 934 healthy controls, striking association was confirmed in Japanese SLE. In addition, these SNPs were significantly associated with susceptibility to SSc, but not with AAV. Conditional logistic regression analysis revealed that the association of NCF1 rs201802880, a missense SNP encoding p.Arg90His, can account for the association of other SNPs by linkage disequilibrium. These results suggested that GTF2I-NCF1 region is associated with susceptibility to multiple autoimmune rheumatic diseases but not with AAV, and the primarily associated variant may be the missense SNP in NCF1.
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