SynthesisNature genetics2008
Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus.
Synthesis in Nature genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 251 papers, 7 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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
251 citing papers in PubMed, 7 syntheses or guidelines pooled it, 467 citations in OpenAlex.
- Variants in BANK1 are associated with lupus nephritis of European ancestry.Genes and immunity · 2021Pooled it
- Trans-Ancestral Fine-Mapping and Epigenetic Annotation as Tools to Delineate Functionally Relevant Risk Alleles atInternational journal of molecular sciences · 2020Pooled it
- Meta-analysis of genome-wide association studies discovers multiple loci for chronic lymphocytic leukemia.Nature communications · 2016Pooled it
- Genes identified in Asian SLE GWASs are also associated with SLE in Caucasian populations.European journal of human genetics : EJHG · 2013Pooled it
- Epistatic interaction between BANK1 and BLK in rheumatoid arthritis: results from a large trans-ethnic meta-analysis.PloS one · 2013Pooled it
- Unraveling multiple MHC gene associations with systemic lupus erythematosus: model choice indicates a role for HLA alleles and non-HLA genes in Europeans.American journal of human genetics · 2012Pooled it
- Association of EBF1, FAM167A(C8orf13)-BLK and TNFSF4 gene variants with primary Sjögren's syndrome.Genes and immunity · 2011Pooled it
- CaMK4-dependent activation of AKT/mTOR and CREM-α underlies autoimmunity-associated Th17 imbalance.The Journal of clinical investigation · 2014Trial
- Article
- Genomic Landscape of Systemic Lupus Erythematosus and Lupus Nephritis Globally and the Gaps in Africa.International journal of molecular sciences · 2026Review
- From Genes to Pathways: The Molecular Landscape of Systemic Lupus Erythematosus.International journal of molecular sciences · 2026Review
- Multimodal analysis of molecular remodeling in aging spleen identified global and cell type specific changes.bioRxiv : the preprint server for biology · 2026Article
- Mapping organ-associated autoantigenic landscapes in systemic lupus erythematosus.Frontiers in immunology · 2026Review
- Immunopathogenesis and Therapeutics of Systemic Lupus Erythematosus: an Integrative Review.Clinical reviews in allergy & immunology · 2025Review
- Transition of CELF2 PAS usage promotes recovery of refractory JDM through alternative splicing regulation of CTSB.Molecular therapy. Nucleic acids · 2025Article
- Systemic lupus erythematosus: updated insights on the pathogenesis, diagnosis, prevention and therapeutics.Signal transduction and targeted therapy · 2025Review
- RNA Splicing Events in Circulation Distinguish Individuals With and Without New-onset Type 1 Diabetes.The Journal of clinical endocrinology and metabolism · 2025Article
- An overview on Sjögren's syndrome and systemic lupus erythematosus' genetics.Toxicology research · 2025Review
- Advances in Targeted Therapy for Systemic Lupus Erythematosus: Current Treatments and Novel Approaches.International journal of molecular sciences · 2025Review
- Article
191 more citing papers are in PubMed but not listed here.
Corrections and comments
- Commented on by
- Erratum issuedBarrizzone, Nadia [corrected to Barizzone, Nadia]
Authors and funding
25 authors at 14 institutions in 7 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Systemic lupus erythematosus (SLE) is a prototypical autoimmune disease characterized by production of autoantibodies and complex genetic inheritance. In a genome-wide scan using 85,042 SNPs, we identified an association between SLE and a nonsynonymous substitution (rs10516487, R61H) in the B-cell scaffold protein with ankyrin repeats gene, BANK1. We replicated the association in four independent case-control sets (combined P = 3.7 x 10(-10); OR = 1.38). We analyzed BANK1 cDNA and found two isoforms, one full-length and the other alternatively spliced and lacking exon 2 (Delta2), encoding a protein without a putative IP3R-binding domain. The transcripts were differentially expressed depending on a branch point-site SNP, rs17266594, in strong linkage disequilibrium (LD) with rs10516487. A third associated variant was found in the ankyrin domain (rs3733197, A383T). Our findings implicate BANK1 as a susceptibility gene for SLE, with variants affecting regulatory sites and key functional domains. The disease-associated variants could contribute to sustained B cell-receptor signaling and B-cell hyperactivity characteristic of this disease.
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Registered trials
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.