Background/Aim: The telomerase reverse transcriptase (TERT) promoter has a regulatory single nucleotide polymorphism (rSNP), rs2853669, and occasionally shows point mutations C228T and C250T. Although C228T and C250T have been well examined to increase TERT promoter activity and are known as risk factors for thyroid carcinoma, the significance of rs2853669 has not been well investigated. This study aimed to clarify the influence of rs2853669 on TERT promoter activity in thyroid carcinoma cells. Materials: Seven of 8 examined thyroid cell lines had rs2853669, 5 had C228T, and 1 had C250T. Results: Three papillary thyroid carcinoma cell lines, harboring both rs2853669 and C228T, showed higher TERT mRNA expression on real-time PCR than the other cell lines. Anaplastic thyroid carcinoma cell lines, in contrast, showed variable TERT mRNA expression depending on the combination of rs2853669, C228T, and C250T. Luciferase assays, performed to compare the influences of rs2853669, C228T, and C250T on TERT promoter activity in thyroid carcinoma, showed that rs2853669, as well as C228T, increased the promoter activity, and the combination of rs2853669 and C228T increased the promoter activity even more strongly than C228T alone. Conclusion: We conclude that the presence of rs2853669 within the TERT promoter could be as significant as the C228T mutation in thyroid carcinoma.

中文翻译：

---

调节性单核苷酸多态性增加甲状腺癌细胞中的TERT启动子活性

背景/目的：端粒酶逆转录酶 (TERT) 启动子具有调节性单核苷酸多态性 (rSNP) rs2853669，偶尔会出现 C228T 和 C250T 点突变。尽管 C228T 和 C250T 已被充分检查以增加 TERT 启动子的活性，并且被认为是甲状腺癌的危险因素，但 rs2853669 的重要性尚未得到充分研究。本研究旨在阐明rs2853669对甲状腺癌细胞中TERT启动子活性的影响。材料：8 个检查的甲状腺细胞系中有 7 个具有 rs2853669，5 个具有 C228T，1 个具有 C250T。结果：三个乳头状甲状腺癌细胞系，同时含有 rs2853669 和 C228T，在实时 PCR 中显示出比其他细胞系更高的 TERT mRNA 表达。相反，甲状腺未分化癌细胞系 显示可变的 TERT mRNA 表达取决于 rs2853669、C228T 和 C250T 的组合。荧光素酶测定比较 rs2853669、C228T 和 C250T 对甲状腺癌中 TERT 启动子活性的影响，结果表明 rs2853669 和 C228T 增加了启动子活性，而 rs2853669 和 C228T 的组合甚至增加了启动子活性比单独的 C228T 强。结论：我们得出结论，TERT 启动子中 rs2853669 的存在可能与甲状腺癌中的 C228T 突变一样重要。rs2853669 和 C228T 的组合比单独的 C228T 更能增强启动子活性。结论：我们得出结论，TERT 启动子中 rs2853669 的存在可能与甲状腺癌中的 C228T 突变一样重要。rs2853669 和 C228T 的组合比单独的 C228T 更能增强启动子活性。结论：我们得出结论，TERT 启动子中 rs2853669 的存在可能与甲状腺癌中的 C228T 突变一样重要。