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.

中文翻译：

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TGF-β1功能多态性：审查。

转化生长因子β（TGF- β）是一种多功能细胞因子，在多种生物学过程中发挥作用。TGF- β1是表达最丰富的同工型，与多种疾病的易感性有关，并且在TGF- β1基因结构中已描述了几种多态性，其中一些与功能相关。迄今为止，已显示出八种单核苷酸多态性（SNP）和一种缺失/插入多态性会影响TGF- β1个表达式（rs2317130，rs11466313，rs1800468，rs1800469，rs11466314，rs1800471，rs1800470和rs11466316）；其中一些通过影响转录因子的结合而干扰转录调节，而其他一些则干扰蛋白质的产生。这些多态性已经与不同类型的疾病（例如，癌症，心脏病，炎性疾病和其他疾病）相关联，因此可以用作易感性生物标记。由于在这方面，多态性簇比单态性更可靠，​​因此希望TGF- β1的单倍型分析可以揭示与TGF- β1基因相关的疾病易感性的遗传基础。