@Article{ecn.2016.0382,
AUTHOR = {Guilherme Cesar Martelossi Cebinelli, Kleber Paiva Trugilo, Stephanie Badaró Garcia, Karen Brajão de Oliveira},
TITLE = {TGF-β1 functional polymorphisms: a review},
JOURNAL = {European Cytokine Network},
VOLUME = {27},
YEAR = {2016},
NUMBER = {4},
PAGES = {81--89},
URL = {http://www.techscience.com/ECN/v27n4/65528},
ISSN = {1952-4005},
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.},
DOI = {10.1684/ecn.2016.0382}
}