ArticleAnnals of the rheumatic diseases2012
Genetic and physical interaction of the B-cell systemic lupus erythematosus-associated genes BANK1 and BLK.
Article in Annals of the rheumatic diseases, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers, 2 of them syntheses that pooled it.
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Who cites it
47 citing papers in PubMed, 2 syntheses or guidelines pooled it, 73 citations in OpenAlex.
- Meta-analysis of genome-wide association study identifies FBN2 as a novel locus associated with systemic lupus erythematosus in Thai population.Arthritis research & therapy · 2020Pooled it
- Epistatic interaction between BANK1 and BLK in rheumatoid arthritis: results from a large trans-ethnic meta-analysis.PloS one · 2013Pooled it
- Integrated expression profiling reveals molecular crosstalk between CFTR, FASN, FRAP (mTOR), and BANK1 in hepatocellular carcinoma.Scientific reports · 2026Article
- Aberrant Enhancer Regulation, Phase Separation, and Autoimmune Diseases.Clinical reviews in allergy & immunology · 2025Review
- Evolutionary divergence in CTCF-mediated chromatin topology drives transcriptional innovation in humans.Nature communications · 2025Article
- The causal effects of 2,821 protein level ratios on non-small cell lung cancer: a two-sample Mendelian randomization study.Translational cancer research · 2025Article
- ELF1 serves as a potential biomarker for the disease activity and renal involvement in systemic lupus erythematosus.Scientific reports · 2024Article
- Bank1 modulates the differentiation and molecular profile of key B cell populations in autoimmunity.JCI insight · 2024Article
- Mercury intoxication disrupts tonic signaling in B cells, and may promote autoimmunity due to abnormal phosphorylation of STIM-1 and other autoimmunity risk associated phosphoproteins involved in BCR signaling.Toxicology and applied pharmacology · 2023Article
- Article
- IgA Vasculitis: Influence ofJournal of clinical medicine · 2022Article
- Haplotype-specific chromatin looping reveals genetic interactions of regulatory regions modulating gene expression in 8p23.1.Frontiers in genetics · 2022Article
- Review
- Review
- Connection of BANK1, Tolerance, Regulatory B cells, and Apoptosis: Perspectives of a Reductionist Investigation.Frontiers in immunology · 2021Article
- Autoimmunity and organ damage in systemic lupus erythematosus.Nature immunology · 2020Review
- Association ofFrontiers in genetics · 2020Article
- Genome-wide association studies of severe P. falciparum malaria susceptibility: progress, pitfalls and prospects.BMC medical genomics · 2019Review
- BLK and BANK1 polymorphisms and interactions are associated in Mexican patients with systemic lupus erythematosus.Inflammation research : official journal of the European Histamine Research Society ... [et al.] · 2019Article
- Functional rare and low frequency variants in BLK and BANK1 contribute to human lupus.Nature communications · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
28 authors at 12 institutions in 7 countries.
Funding
Abstract
objectivesAltered signalling in B cells is a predominant feature of systemic lupus erythematosus (SLE). The genes BANK1 and BLK were recently described as associated with SLE. BANK1 codes for a B-cell-specific cytoplasmic protein involved in B-cell receptor signalling and BLK codes for an Src tyrosine kinase with important roles in B-cell development. To characterise the role of BANK1 and BLK in SLE, a genetic interaction analysis was performed hypothesising that genetic interactions could reveal functional pathways relevant to disease pathogenesis.
methodsThe GPAT16 method was used to analyse the gene-gene interactions of BANK1 and BLK. Confocal microscopy was used to investigate co-localisation, and immunoprecipitation was used to verify the physical interaction of BANK1 and BLK.
resultsEpistatic interactions between BANK1 and BLK polymorphisms associated with SLE were observed in a discovery set of 279 patients and 515 controls from northern Europe. A meta-analysis with 4399 European individuals confirmed the genetic interactions between BANK1 and BLK. As BANK1 was identified as a binding partner of the Src tyrosine kinase LYN, the possibility that BANK1 and BLK could also show a protein-protein interaction was tested. The co-immunoprecipitation and co-localisation of BLK and BANK1 were demonstrated. In a Daudi cell line and primary naive B cells endogenous binding was enhanced upon B-cell receptor stimulation using anti-IgM antibodies.
conclusionThis study shows a genetic interaction between BANK1 and BLK, and demonstrates that these molecules interact physically. The results have important consequences for the understanding of SLE and other autoimmune diseases and identify a potential new signalling pathway.
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Registered trials
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