ArticleArthritis and rheumatism2012
Association of two independent functional risk haplotypes in TNIP1 with systemic lupus erythematosus.
Article in Arthritis and rheumatism, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers, 1 of them a synthesis that pooled it.
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Who cites it
42 citing papers in PubMed, 1 synthesis or guideline pooled it, 78 citations in OpenAlex.
- Receptor-interacting protein kinase 1 (RIPK1) as a therapeutic target.Nature reviews. Drug discovery · 2020Pooled it
- Rare variants in non-coding regulatory regions of the genome that affect gene expression in systemic lupus erythematosus.Scientific reports · 2019Trial
- TNIP1 As A Potential Factor In Neuronal Survival, Growth and Differentiation in the Cerebellar Cortex.Cerebellum (London, England) · 2026Article
- An overview on Sjögren's syndrome and systemic lupus erythematosus' genetics.Toxicology research · 2025Review
- Attenuation of HOIL-1L ligase activity promotes systemic autoimmune disorders by augmenting linear ubiquitin signaling.JCI insight · 2024Article
- Repressive Control of Keratinocyte Cytoplasmic Inflammatory Signaling.International journal of molecular sciences · 2023Review
- A Summary on the Genetics of Systemic Lupus Erythematosus, Rheumatoid Arthritis, Systemic Sclerosis, and Sjögren's Syndrome.Clinical reviews in allergy & immunology · 2023Review
- CCL3L3-null status is associated with susceptibility to systemic lupus erythematosus.Scientific reports · 2021Article
- ABIN-1 is a key regulator in RIPK1-dependent apoptosis (RDA) and necroptosis, and ABIN-1 deficiency potentiates necroptosis-based cancer therapy in colorectal cancer.Cell death & disease · 2021Article
- LUBAC-mediated linear ubiquitination: a crucial regulator of immune signaling.Proceedings of the Japan Academy. Series B, Physical and biological sciences · 2021Review
- Review
- Role of Systemic Lupus Erythematosus Risk Variants With Opposing Functional Effects as a Driver of Hypomorphic Expression of TNIP1 and Other Genes Within a Three-Dimensional Chromatin Network.Arthritis & rheumatology (Hoboken, N.J.) · 2020Article
- Immune and sex-biased gene expression in the threatened Mojave desert tortoise, Gopherus agassizii.PloS one · 2020Article
- Enhanced Wound Healing- and Inflammasome-Associated Gene Expression in TNFAIP3-Interacting Protein 1- (TNIP1-) Deficient HaCaT Keratinocytes Parallels Reduced Reepithelialization.Mediators of inflammation · 2020Article
- Distinct signals and immune cells drive liver pathology and glomerulonephritis in ABIN1[D485N] mice.Life science alliance · 2019Article
- Patrolling monocytes promote the pathogenesis of early lupus-like glomerulonephritis.The Journal of clinical investigation · 2019Article
- Article
- The Post-GWAS Era: How to Validate the Contribution of Gene Variants in Lupus.Current rheumatology reports · 2019Review
- Tumor necrosis factor α-induced protein 3 (A20) is dysregulated in pediatric Crohn disease.Clinical and experimental gastroenterology · 2018Article
- Plasma Cell Differentiation Pathways in Systemic Lupus Erythematosus.Frontiers in immunology · 2018Review
Corrections and comments
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Authors and funding
50 authors at 20 institutions in 6 countries.
Funding
Abstract
objectiveSystemic lupus erythematosus (SLE) is an autoimmune disease characterized by autoantibody production and altered type I interferon expression. Genetic surveys and genome-wide association studies have identified >30 SLE susceptibility genes. One of these genes, TNIP1, encodes the ABIN1 protein. ABIN1 functions in the immune system by restricting NF-κB signaling. The present study was undertaken to investigate the genetic factors that influence association with SLE in genes that regulate the NF-κB pathway.
methodsWe analyzed a dense set of genetic markers spanning TNIP1 and TAX1BP1, as well as the TNIP1 homolog TNIP2, in case-control populations of diverse ethnic origins. TNIP1, TNIP2, and TAX1BP1 were fine-mapped in a total of 8,372 SLE cases and 7,492 healthy controls from European-ancestry, African American, Hispanic, East Asian, and African American Gullah populations. Levels of TNIP1 messenger RNA (mRNA) and ABIN1 protein in Epstein-Barr virus-transformed human B cell lines were analyzed by quantitative reverse transcription-polymerase chain reaction and Western blotting, respectively.
resultsWe found significant associations between SLE and genetic variants within TNIP1, but not in TNIP2 or TAX1BP1. After resequencing and imputation, we identified 2 independent risk haplotypes within TNIP1 in individuals of European ancestry that were also present in African American and Hispanic populations. Levels of TNIP1 mRNA and ABIN1 protein were reduced among subjects with these haplotypes, suggesting that they harbor hypomorphic functional variants that influence susceptibility to SLE by restricting ABIN1 expression.
conclusionOur results confirm the association signals between SLE and TNIP1 variants in multiple populations and provide new insight into the mechanism by which TNIP1 variants may contribute to SLE pathogenesis.
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