Open Access

REVIEW

TGF-β1 functional polymorphisms: a review

Guilherme Cesar Martelossi Cebinelli, Kleber Paiva Trugilo, Stephanie Badaró Garcia, Karen Brajão de Oliveira

Immunology and Molecular Genetics Laboratory, Department of Pathological Sciences, Biologic Science Center, Londrina State University, Paraná,Brazil

* Corresponding Author: Karen Brajão de Oliveira,

European Cytokine Network 2016, 27(4), 81-89. https://doi.org/10.1684/ecn.2016.0382

Accepted 15 December 2016;

Abstract

Transforming Growth Factor β (TGF-β) is a multifunctional cytokine that plays a role in several biological processes. TGF-ß1 is the most abundantly expressed isoform, associated with susceptibility to various diseases, and several polymorphisms have been described in the TGF-β1 gene structure, and some of them have been associated with functional implications. To date, eight single-nucleotide polymorphisms (SNPs) and one deletion/insertion polymorphism have been shown to affect TGF-β1 expression (rs2317130, rs11466313, rs1800468, rs1800469, rs11466314, rs1800471, rs1800470, and rs11466316); some of these interfere with transcriptional regulation by affecting the binding of transcription factors binding, while others interfere with protein production. These polymorphisms have been associated with different types of diseases (i.e., cancers, cardiac diseases, inflammatory diseases, and others) and could therefore be used as susceptibility biomarkers. Since polymorphism clusters are likely to be more reliable than single polymorphisms in this respect, it is hoped that haplotype analysis of TGF-β1 may reveal the genetic basis of disease susceptibility associated with the TGF-β1 gene.

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