MMP-9-1562 C/T single nucleotide polymorphism associates with increased MMP-9 level and activity during papillary thyroid carcinoma progression

Pathology ◽  
2019 ◽  
Vol 51 (1) ◽  
pp. 55-61 ◽  
Author(s):  
Jelena Roncevic ◽  
Ilona Djoric ◽  
Sonja Selemetjev ◽  
Jelena Jankovic ◽  
Tijana Isic Dencic ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Papillary Thyroid Carcinoma ◽  
Thyroid Carcinoma ◽  
Papillary Thyroid ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide

Regulatory Single Nucleotide Polymorphism Increases TERT Promoter Activity in Thyroid Carcinoma Cells

Pathobiology ◽  
2020 ◽  
Vol 87 (6) ◽  
pp. 338-344
Author(s):  
Tatsuya Hirokawa ◽  
Yuu Arimasu ◽  
Tomohiro Chiba ◽  
Yoko Nakazato ◽  
Masachika Fujiwara ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Thyroid Carcinoma ◽  
Cell Lines ◽  
Promoter Activity ◽  
Carcinoma Cell ◽  
Carcinoma Cells ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Carcinoma Cell Lines ◽  
Thyroid Carcinoma Cell

<b><i>Background/Aim:</i></b> The telomerase reverse transcriptase (<i>TERT</i>) 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 <i>TERT</i> 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 <i>TERT</i> promoter activity in thyroid carcinoma cells. <b><i>Materials:</i></b> Seven of 8 examined thyroid cell lines had rs2853669, 5 had C228T, and 1 had C250T. <b><i>Results:</i></b> Three papillary thyroid carcinoma cell lines, harboring both rs2853669 and C228T, showed higher <i>TERT</i> mRNA expression on real-time PCR than the other cell lines. Anaplastic thyroid carcinoma cell lines, in contrast, showed variable <i>TERT</i> mRNA expression depending on the combination of rs2853669, C228T, and C250T. Luciferase assays, performed to compare the influences of rs2853669, C228T, and C250T on <i>TERT</i> 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. <b><i>Conclusion:</i></b> We conclude that the presence of rs2853669 within the <i>TERT</i> promoter could be as significant as the C228T mutation in thyroid carcinoma.

scholarly journals The Contribution of Genetic Variants to the Risk of Papillary Thyroid Carcinoma in the Kazakh Population: Study of Common Single Nucleotide Polymorphisms and Their Clinicopathological Correlations

2021 ◽  
Vol 11 ◽  
Author(s):  
Zhanna Mussazhanova ◽  
Tatiana I. Rogounovitch ◽  
Vladimir A. Saenko ◽  
Ainur Krykpayeva ◽  
Maira Espenbetova ◽  
...  
Keyword(s):  
Papillary Thyroid Carcinoma ◽  
Single Nucleotide Polymorphisms ◽  
Thyroid Carcinoma ◽  
Genetic Variants ◽  
Genetic Factors ◽  
Nucleotide Polymorphisms ◽  
Papillary Thyroid ◽  
Single Nucleotide ◽  
Kazakh Population ◽  
Clinicopathological Correlations

ObjectiveRisk for developing papillary thyroid carcinoma (PTC), the most common endocrine malignancy, is thought to be mediated by lifestyle, environmental exposures and genetic factors. Recent progress in the genome-wide association studies of thyroid cancer leads to the identification of several genetic variants conferring risk to this malignancy across different ethnicities. We set out to elucidate the impact of selected single nucleotide polymorphisms (SNPs) on PTC risk and to evaluate clinicopathological correlations of these genetic variants in the Kazakh population for the first time.MethodsEight SNPs were genotyped in 485 patients with PTC and 1,008 healthy control Kazakh subjects. The association analysis and multivariable modeling of PTC risk by the genetic factors, supplemented with rigorous statistical validation, were performed.ResultFive of the eight SNPs: rs965513 (FOXE1/PTCSC2, P = 1.3E-16), rs1867277 (FOXE1 5’UTR, P = 7.5E-06), rs2439302 (NRG1 intron 1, P = 4.0E-05), rs944289 (PTCSC3/NKX2-1, P = 4.5E-06) and rs10136427 (BATF upstream, P = 9.8E-03) were significantly associated with PTC. rs966423 (DIRC3, P = 0.07) showed a suggestive association. rs7267944 (DHX35) was associated with PTC risk in males (P = 0.02), rs1867277 (FOXE1) conferred the higher risk in subjects older than 55 years (P = 7.0E-05), and rs6983267 (POU5F1B/CCAT2) was associated with pT3–T4 tumors (P = 0.01). The contribution of genetic component (unidirectional independent effects of rs965513, rs944289, rs2439302 and rs10136427 adjusted for age and sex) to PTC risk in the analyzed series was estimated to be 30–40%.ConclusionGenetic factors analyzed in the present work display significant association signals with PTC either on the whole group analysis or in particular clinicopathological groups and account for about one-third of the risk for PTC in the Kazakh population.

scholarly journals Association of single nucleotide polymorphisms in FOXE1 and pre-MIR146A with papillary thyroid carcinoma

BMC Genomics ◽  
2014 ◽  
Vol 15 (Suppl 2) ◽  
pp. P68 ◽  
Author(s):  
Nadia Bagatian ◽  
Ohoud Subhi ◽  
Shireen Hussain ◽  
Khalid Al-Ghamdi ◽  
Osman Al-Hamour ◽  
...  
Keyword(s):  
Papillary Thyroid Carcinoma ◽  
Single Nucleotide Polymorphisms ◽  
Thyroid Carcinoma ◽  
Nucleotide Polymorphisms ◽  
Papillary Thyroid ◽  
Single Nucleotide
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