ArticleEuropean journal of human genetics : EJHG2018
Molecular-genetic characterization of common, noncoding UBASH3A variants associated with type 1 diabetes.
Article in European journal of human genetics : EJHG, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 42 citations in OpenAlex.
- Manipulation of Alternative Splicing ofCells · 2026Article
- Artificial intelligence-driven therapeutics for disease modification in type 1 diabetes: a digital public health and clinical translation framework.Frontiers in public health · 2026Review
- Exploring UBASH3A: from immune regulation to autoimmune diseases.Journal of translational medicine · 2025Review
- New Perspectives in Studying Type 1 Diabetes Susceptibility Biomarkers.International journal of molecular sciences · 2025Review
- Roles of TULA-family proteins in T cells and autoimmune diseases.Genes and immunity · 2025Review
- The perfect storm: unraveling the interplay of genetic predisposition and viral triggers in type 1 diabetes pathogenesis.Frontiers in endocrinology · 2025Review
- The Ubiquitin-Associated and SH3 Domain-Containing Proteins (UBASH3) Family in Mammalian Development and Immune Response.International journal of molecular sciences · 2024Review
- Shifts in isoform usage underlie transcriptional differences in regulatory T cells in type 1 diabetes.Communications biology · 2023Article
- TULA Proteins in Men, Mice, Hens, and Lice: Welcome to the Family.International journal of molecular sciences · 2023Review
- UBASH3A Interacts with PTPN22 to RegulateInternational journal of molecular sciences · 2023Article
- IL-6 production through repression of UBASH3A gene via epigenetic dysregulation of super-enhancer in CD4Inflammation and regeneration · 2022Article
- Genetic overlap between type 1 diabetes and other autoimmune diseases.Seminars in immunopathology · 2022Review
- Identification of candidate biomarkers and therapeutic agents for heart failure by bioinformatics analysis.BMC cardiovascular disorders · 2021Article
- De-coding genetic risk variants in type 1 diabetes.Immunology and cell biology · 2021Review
- Early Onset of Autoimmune Diabetes in Children with Down Syndrome-Two Separate Aetiologies or an Immune System Pre-Programmed for Autoimmunity?Current diabetes reports · 2020Review
- UBASH3A deficiency accelerates type 1 diabetes development and enhances salivary gland inflammation in NOD mice.Scientific reports · 2020Article
- Expression Changes Confirm Genomic Variants Predicted to Result in Allele-Specific, Alternative mRNA Splicing.Frontiers in genetics · 2020Article
- UBASH3A Regulates the Synthesis and Dynamics of TCR-CD3 Complexes.Journal of immunology (Baltimore, Md. : 1950) · 2019Article
- The heterogeneous pathogenesis of type 1 diabetes mellitus.Nature reviews. Endocrinology · 2019Review
- Evidence that UBASH3 is a causal gene for type 1 diabetes.European journal of human genetics : EJHG · 2018Article
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Abstract
Genome-wide association and fine-mapping studies have identified over 40 susceptibility regions for type 1 diabetes (T1D), a common autoimmune disease; however, most of the disease-associated variants are noncoding, and it remains a challenge to understand their biological contributions to T1D pathogenesis. One identified T1D risk locus is located at chromosome 21q22.3 where the most likely candidate gene is UBASH3A, a negative regulator of NF-κB signaling. Various noncoding variants in UBASH3A have been shown to be associated with T1D or other autoimmune diseases. Here we investigated four such SNPs-rs11203202, rs80054410, rs11203203, and rs1893592. We discovered a novel role for rs1893592 in T1D and showed that its minor allele protects against T1D. Our haplotype analysis identified three T1D-associated UBASH3A haplotypes, and revealed that risk for T1D is affected by additive effects of these four UBASH3A variants. In human primary CD4
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