TGF-β1 functional polymorphisms: a review
Guilherme Cesar Martelossi Cebinelli, Kleber Paiva Trugilo, Stephanie Badaró Garcia, Karen Brajão de Oliveira
European Cytokine Network, Vol.27, No.4, pp. 81-89, 2016, DOI:10.1684/ecn.2016.0382
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 More >