TGF-β1 functional polymorphisms: a review.
Transforming Growth Factor β (TGF-β) is a multifunctional cytokine that plays a role in several biological processes. TGF-β1 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.
['Martelossi Cebinelli|Guilherme Cesar|GC|', 'Paiva Trugilo|Kleber|K|', 'Badaró Garcia|Stephanie|S|', 'Brajão de Oliveira|Karen|K|']
D000818:Animals D001792:Blood Platelets D004622:Embryo, Mammalian D006801:Humans D007684:Kidney Tubules D008264:Macrophages D009363:Neoplasm Proteins D009369:Neoplasms D020641:Polymorphism, Single Nucleotide D020033:Protein Isoforms D055503:Protein Multimerization D050378:T-Lymphocytes, Regulatory D053773:Transforming Growth Factor beta1
haplotype EMSA TGF-β1 polymorphisms clinical implications luciferase