ArticleImmunogenetics2003
A functional polymorphism in the promoter/enhancer region of the FOXP3/Scurfin gene associated with type 1 diabetes.
Article in Immunogenetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers, 1 of them a synthesis that pooled it.
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Who cites it
47 citing papers in PubMed, 1 synthesis or guideline pooled it, 150 citations in OpenAlex.
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- Identification of gene mutations associated with type 1 diabetes by next-generation sequencing in affected Palestinian families.Frontiers in genetics · 2023Article
- The Immunogenetics of Autoimmune Blistering Diseases.Advances in experimental medicine and biology · 2022Review
- Association of Crohn's disease with Foxp3 gene polymorphisms and its colonic expression in Chinese patients.Journal of clinical laboratory analysis · 2019Article
- The FOXP3 rs3761547 Gene Polymorphism in Multiple Sclerosis as a Male-Specific Risk Factor.Neuromolecular medicine · 2018Article
- Study of the association of forkhead box P3 (Journal of genetics · 2018Article
- Association of Foxp3 promoter polymorphisms with susceptibility to endometrial cancer in the Chinese Han women.Medicine · 2018Observational
- The synergic effects of CTLA-4/Foxp3-related genotypes and chromosomal aberrations on the risk of recurrent spontaneous abortion among a Chinese Han population.Journal of human genetics · 2018Article
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- Immunological Mechanisms in Allergic Diseases and Allergen Tolerance: The Role of Treg Cells.Journal of immunology research · 2018Review
- Genetic Association of Hematopoietic Stem Cell Transplantation Outcome beyond Histocompatibility Genes.Frontiers in immunology · 2017Review
- Regulatory T Cell and Forkhead Box Protein 3 as Modulators of Immune Homeostasis.Frontiers in immunology · 2017Review
- Analysis of a Genetic Polymorphism in the Costimulatory Molecule TNFSF4 with Hematopoietic Stem Cell Transplant Outcomes.Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation · 2016Article
- Copy number variants and genetic polymorphisms in TBX21, GATA3, Rorc, Foxp3 and susceptibility to Behcet's disease and Vogt-Koyanagi-Harada syndrome.Scientific reports · 2015Article
- Article
- Article
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
FOXP3/Scurfin, a member of forkhead/winged-helix proteins, is involved in the regulation of T-cell activation, and essential for normal immune homeostasis. The FOXP3/Scurfin gene is located on chromosome Xp11.23, which includes one of the type 1 diabetes susceptible loci. Therefore, we investigated whether the human FOXP3/Scurfin gene might be a new candidate gene for type 1 diabetes. We first screened the human FOXP3/Scurfin gene for microsatellite and single nucleotide polymorphisms. Next, we performed an association study between the FOXP3/Scurfin gene and type 1 diabetes. Then, the evaluation of promoter/enhancer activity of the intron with (GT)(n) polymorphism was performed by dual luciferase reporter assay. We demonstrated two regions contained microsatellite polymorphisms; one was (GT)(n), located on intron zero and the other (TC)(n) on intron 5, which were under linkage-disequilibrium. The (GT)(15) allele showed a significantly higher frequency in patients with type 1 diabetes than in controls (43.1% vs 32.6%, P=0.0027). The genotype frequencies of (GT)(15)/(GT)(15) in female patients and of (GT)(15) in male patients tended to be higher than those in female ( P=0.064) and male ( P=0.061) controls, respectively. A significant difference in the enhancer activity between (GT)(15) and (GT)(16) dinucleotide repeats was detected. In conclusion, the FOXP3/Scurfin gene appears to confer a significant susceptibility to type 1 diabetes in the Japanese population.
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