Dataset Information

Clinical utility of TGFB1 and its receptors (TGFBR1 and TGFBR2) in thyroid nodules: evaluation based on single nucleotide polymorphisms and mRNA analysis.

ABSTRACT:

Objective

Abnormalities involving the TGFB1 gene and its receptors are common in several types of cancer and often related to tumor progression. We investigated the role of single nucleotide polymorphisms (SNP) in the susceptibility to cancer, their impact on its features, as well as the role of mRNA expression of these genes in thyroid malignancy.

Methods

We genotyped TGFB1, TGFBR1, and TGFBR2 SNPs in 157 papillary thyroid cancer (PTC) patients and 200 healthy controls. Further, we investigated RNA samples of 47 PTC and 80 benign nodules, searching for differential mRNA expression.

Results

SNPs rs1800472 and rs1800469 were associated with characteristics of PTC aggressiveness. Effect predictor software analysis of nonsynonymous SNP rs1800472 indicated increasing protein stability and post-translational changes. TGFB1 mRNA expression was upregulated in PTC and downregulated in benign samples, differentiating malignant from benign nodules (p<0.0001); PTC from goiter (p<0.0001); and PTC from FA (p<0.0001). TGFBR1 mRNA expression was upregulated in goiter and PTC, but downregulated in FA, distinguishing PTC from goiter (p=0.0049); PTC from FA (p<0.0001); and goiter from FA (p=0.0267). On the other hand, TGFBR2 was downregulated in all histological types analyzed and was not able to differentiate thyroid nodules.

Conclusion

TGFB1 polymorphism rs1800472 may confer greater activity to TGF-β1 in the tumor microenvironment, favoring PTC aggressiveness. Evaluation of TGFB1 and TGFBR1 mRNA levels may be useful to identify malignancy in thyroid nodules.

SUBMITTER: Peres KC

PROVIDER: S-EPMC10065325 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature

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Publications

Clinical utility of <i>TGFB1</i> and its receptors (<i>TGFBR1</i> and <i>TGFBR2</i>) in thyroid nodules: evaluation based on single nucleotide polymorphisms and mRNA analysis.

Peres Karina Colombera KC Teodoro Larissa L Amaral Laís Helena Pereira LHP Teixeira Elisângela Souza ES Barreto Icléia Siqueira IS de Freitas Leandro Luiz Lopes LLL Maximo Valdemar V Assumpção Lígia V Montalli LVM Bufalo Natassia Elena NE Ward Laura Sterian LS

Archives of endocrinology and metabolism 20210224 2

<h4>Objective</h4>Abnormalities involving the <i>TGFB1</i> gene and its receptors are common in several types of cancer and often related to tumor progression. We investigated the role of single nucleotide polymorphisms (SNP) in the susceptibility to cancer, their impact on its features, as well as the role of mRNA expression of these genes in thyroid malignancy.<h4>Methods</h4>We genotyped <i>TGFB1</i>, <i>TGFBR1</i>, and <i>TGFBR2</i> SNPs in 157 papillary thyroid cancer (PTC) patients and 200 ...[more]

PMID: 33905626

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