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TGF-β1 functional polymorphisms: a review
Guilherme Cesar Martelossi Cebinelli1, Kleber Paiva Trugilo1, Stephanie Badaró Garcia1
1Immunology and Molecular Genetics Laboratory, Department of Pathological Sciences, Biologic Science Center, Londrina State University, Paraná, Brazil.
European Cytokine Network
|April 12, 2017
Summary
Transforming Growth Factor Beta 1 (TGF-β1) gene polymorphisms influence its expression and protein production. These genetic variations are linked to disease susceptibility and may serve as valuable biomarkers.
Area of Science:
- Genetics
- Molecular Biology
- Immunology
Background:
- Transforming Growth Factor Beta (TGF-β) is a key cytokine regulating numerous biological processes.
- TGF-β1, the most common isoform, is implicated in disease susceptibility.
- Genetic variations (polymorphisms) in the TGF-β1 gene can alter its function.
Purpose of the Study:
- To review the known functional polymorphisms in the TGF-β1 gene.
- To explore the association of these polymorphisms with various diseases.
- To highlight the potential of TGF-β1 haplotype analysis for identifying disease susceptibility.
Main Methods:
- Literature review of studies on TGF-β1 gene polymorphisms.
- Analysis of single-nucleotide polymorphisms (SNPs) and insertion/deletion polymorphisms.
- Examination of associations between polymorphisms and disease phenotypes.
Main Results:
- Eight SNPs and one insertion/deletion polymorphism identified affecting TGF-β1 expression or protein production.
- These polymorphisms are linked to increased risk for cancers, cardiac, and inflammatory diseases.
- Specific polymorphisms impact transcriptional regulation or protein synthesis.
Conclusions:
- TGF-β1 gene polymorphisms are associated with diverse disease states.
- These genetic variations can serve as potential biomarkers for disease susceptibility.
- Haplotype analysis of TGF-β1 may offer a more robust approach to understanding genetic predisposition to diseases.