ArticleJournal of autoimmunity2010
Association of the C8orf13-BLK region with systemic sclerosis in North-American and European populations.
Article in Journal of autoimmunity, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 65 papers, 9 of them syntheses that pooled it.
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.
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Who cites it
65 citing papers in PubMed, 9 syntheses or guidelines pooled it, 130 citations in OpenAlex.
- B-cell lymphocyte kinase polymorphisms rs13277113, rs2736340, and rs4840568 and risk of autoimmune diseases: A meta-analysis.Medicine · 2017Pooled it
- Unfolding the pathogenesis of scleroderma through genomics and epigenomics.Journal of autoimmunity · 2017Pooled it
- Identification of an Association of TNFAIP3 Polymorphisms With Matrix Metalloproteinase Expression in Fibroblasts in an Integrative Study of Systemic Sclerosis-Associated Genetic and Environmental Factors.Arthritis & rheumatology (Hoboken, N.J.) · 2016Pooled it
- 8p22-23-rs2254546 as a susceptibility locus for Kawasaki disease: a case-control study and a meta-analysis.Scientific reports · 2014Pooled it
- Epistatic interaction between BANK1 and BLK in rheumatoid arthritis: results from a large trans-ethnic meta-analysis.PloS one · 2013Pooled it
- Meta-analysis reveals an association of PTPN22 C1858T with autoimmune diseases, which depends on the localization of the affected tissue.Genes and immunity · 2012Pooled it
- Association of BLK (rs13277113, rs2248932) polymorphism with systemic lupus erythematosus: a meta-analysis.Molecular biology reports · 2011Pooled it
- Analysis of the influence of PTPN22 gene polymorphisms in systemic sclerosis.Annals of the rheumatic diseases · 2011Pooled it
- Association of EBF1, FAM167A(C8orf13)-BLK and TNFSF4 gene variants with primary Sjögren's syndrome.Genes and immunity · 2011Pooled it
- Autoimmunity-associated DIORA1 binds the MRCK family of serine/threonine kinases and controls cell motility.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- IgA Vasculitis: Influence ofJournal of clinical medicine · 2022Article
- FAM167A is a key molecule to induce BCR-ABL-independent TKI resistance in CML via noncanonical NF-κB signaling activation.Journal of experimental & clinical cancer research : CR · 2022Article
- Haplotype-specific chromatin looping reveals genetic interactions of regulatory regions modulating gene expression in 8p23.1.Frontiers in genetics · 2022Article
- Dysregulated B cell function and disease pathogenesis in systemic sclerosis.Frontiers in immunology · 2022Review
- Updates on genetics in systemic sclerosis.Inflammation and regeneration · 2021Review
- Targeting Bruton's Tyrosine Kinase in Inflammatory and Autoimmune Pathologies.Frontiers in cell and developmental biology · 2021Review
- Molecular "omic" signatures in systemic sclerosis.European journal of rheumatology · 2020Review
- Validation of genome-wide associated variants for Kawasaki disease in a Taiwanese case-control sample.Scientific reports · 2020Article
- Article
- A circulating cell population showing both M1 and M2 monocyte/macrophage surface markers characterizes systemic sclerosis patients with lung involvement.Respiratory research · 2018Article
5 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
21 authors at 10 institutions in 3 countries.
Funding
Abstract
objectiveGenetic studies in the systemic sclerosis (SSc), an autoimmune disease that clinically manifests with dermal and internal organ fibrosis and small vessel vasculopathy, have identified multiple susceptibility genes including HLA-class II, PTPN22, IRF5, and STAT4 which have also been associated with other autoimmune diseases, such as systemic lupus erythematosus (SLE). These data suggest that there are common autoimmune disease susceptibility genes. The current report sought to determine if polymorphisms in the C8orf13-BLK region (chromosome 8p23.1-B lymphoid tyrosine kinase), which is associated with SLE, are associated also with SSc.
methodsTwo variants in the C8orf13-BLK region (rs13277113 & rs2736340) were tested for association with 1050 SSc cases and 694 controls of North Americans of European descent and replicated in a second series 589 SSc cases and 722 controls from Spain.
resultsThe "T" allele at rs2736340 variant was associated with SSc in both the U.S. and Spanish case-control series (P = 6.8 x 10(-5), OR 1.27, 95% CI 1.1-1.4). The "A" allele at rs13277113 variant was associated with SSc in the U.S. series only (P = 3.6 x 10(-4), OR 1.32, 95% CI 1.1-1.6) and was significant in the combined analyses of the two series (P = 2.0 x 10(-3); OR 1.20, 95% CI 1.1-1.3). Both variants demonstrated an association with the anti-centromere antibody (P = 2.2 x 10(-6) and P = 5.5 x 10(-4), respectively) and limited SSc (P = 3.3 x 10(-5) and P = 2.9 x 10(-3), respectively) in the combined analysis. Peripheral blood gene expression profiles suggest that B-cell receptor and NFkappaB signaling are dysregulated based on the risk haplotype of these variants.
conclusionWe identify and replicate the association of the C8orf13-BLK region as a novel susceptibility factor for SSc, placing it in the category of common autoimmune disease susceptibility genes.
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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.