ArticleHuman genetics2006
Allelic diversity in the TGFB1 regulatory region: characterization of novel functional single nucleotide polymorphisms.
Article in Human genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 3 of them syntheses that pooled it.
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Who cites it
29 citing papers in PubMed, 3 syntheses or guidelines pooled it, 80 citations in OpenAlex.
- Pooled it
- Association between transforming growth factor-beta 1 T869C polymorphism and ischemic stroke: a meta-analysis.PloS one · 2013Pooled it
- TGFB1 genetic polymorphisms and coronary heart disease risk: a meta-analysis.BMC medical genetics · 2012Pooled it
- Advanced statistics identification of participant and treatment predictors associated with severe adverse effects induced by fluoropyrimidine-based chemotherapy.Cancer chemotherapy and pharmacology · 2023Article
- Article
- The rs1800469 T/T and rs1800470 C/C genotypes of the TGFB1 gene confer protection against diabetic retinopathy in a Southern Brazilian population.Genetics and molecular biology · 2023Article
- TGFB1 (rs1800470 and rs1800469) variants are independently associated with disease activity and autoantibodies in rheumatoid arthritis patients.Clinical and experimental medicine · 2022Article
- Cytokine TGFβ Gene Polymorphism in Asthma: TGF-Related SNP Analysis Enhances the Prediction of Disease Diagnosis (A Case-Control Study With Multivariable Data-Mining Model Development).Frontiers in immunology · 2022Article
- miR-2337 induces TGF-β1 production in granulosa cells by acting as an endogenous small activating RNA.Cell death discovery · 2021Article
- Article
- Polymorphisms in the TGFB1 signal peptide influence human papillomavirus infection and development of cervical lesions.Medical microbiology and immunology · 2019Article
- The functionality of African-specific variants in the TGFB1 regulatory region and their potential role in HIVAN.Clinical and experimental nephrology · 2018Article
- Butyrate produced by gut commensal bacteria activates TGF-beta1 expression through the transcription factor SP1 in human intestinal epithelial cells.Scientific reports · 2018Article
- Otosclerosis Associated with a De Novo Mutation -832G > A in the TGFB1 Gene Promoter Causing a Decreased Expression Level.Scientific reports · 2016Article
- The African-387 C>T TGFB1 variant is functional and associates with the ophthalmoplegic complication in juvenile myasthenia gravis.Journal of human genetics · 2016Article
- Polymorphism in TGFB1 is associated with worse non-relapse mortality and overall survival after stem cell transplantation with unrelated donors.Haematologica · 2016Article
- Article
- Pleiotropic Effects of Immune Responses Explain Variation in the Prevalence of Fibroproliferative Diseases.PLoS genetics · 2015Review
- A novel association between TGFb1 and ADAMTS4 in coronary artery disease: A new potential mechanism in the progression of atherosclerosis and diabetes.Anatolian journal of cardiology · 2015Article
- Association of Transforming Growth Factor Beta-1 (TGF-β1) Genetic Variation with Type 2 Diabetes and End Stage Renal Disease in Two Large Population Samples from North India.Omics : a journal of integrative biology · 2015Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
Abstract
Altered TGF-beta1 expression due to polymorphisms affects a wide variety of normal cellular and disease processes such as T cell activation and proliferation, tumor progression, and asthma. In this study, a comprehensive examination of function and diversity was undertaken for the TGFB1 promoter region and exon 1 (-2,665 to +423). The known TGF-beta1 promoter was extended to encompass 463 bases by the identification of a strong enhancer activity for a distal segment (-2,665 to -2,204). Ten novel polymorphisms and 14 novel alleles were identified. Most single nucleotide polymorphisms (SNPs) appear to be randomly associated except c.-768_-769insC and c.+74G > C and a set of five novel polymorphisms present in a single allele in persons of African descent. The TGFB1 alleles clustered into three phylogenetic groups based on the common functional SNPs c.-1347C > T (commonly known as -509C-T) and c.+29T > C (commonly known as +869T-C) suggesting three phenotypic groups. Two SNPs unique to African-Americans affect the TGFB1 regulatory region. The c.-1287G > A SNP in the promoter alters the binding affinity of two unidentified transcription factor complexes which translates into a significant difference in reporter gene expression and the c.-387C > T SNP in the 5' UTR alters the binding of Stimulating protein 1 and 3. Thus, TGFB1 possesses a highly polymorphic, extensive regulatory region that likely impacts the pathogenesis of numerous TGF-beta1 related diseases.
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