Single nucleotide polymorphisms of ataxia telangiectasia mutated and the risk of papillary thyroid carcinoma

2014 ◽  
Vol 56 (1) ◽  
pp. 70-76 ◽  
Author(s):  
Chang Myeon Song ◽  
Tack-Kyun Kwon ◽  
Byung Lae Park ◽  
Yong Bae Ji ◽  
Kyung Tae
Keyword(s):  
Papillary Thyroid Carcinoma ◽  
Single Nucleotide Polymorphisms ◽  
Thyroid Carcinoma ◽  
Ataxia Telangiectasia ◽  
Nucleotide Polymorphisms ◽  
Papillary Thyroid ◽  
Ataxia Telangiectasia Mutated ◽  
Single Nucleotide

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

Single nucleotide polymorphisms of the Fas gene are associated with papillary thyroid cancer

2015 ◽  
Vol 42 (4) ◽  
pp. 326-331 ◽  
Author(s):  
Young Gyu Eun ◽  
Young Chan Lee ◽  
Su Kang Kim ◽  
Joo-Ho Chung ◽  
Kee Hwan Kwon ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Single Nucleotide Polymorphisms ◽  
Papillary Thyroid Cancer ◽  
Nucleotide Polymorphisms ◽  
Papillary Thyroid ◽  
Single Nucleotide

scholarly journals Genetic predisposition to papillary thyroid carcinoma is mediated by a long non-coding RNA TINCR enhancer polymorphism

2021 ◽  
Author(s):  
Qiang Wang ◽  
Hong Huang ◽  
Peng Chen ◽  
Xiao Xiao ◽  
Xiaolei Luo ◽  
...  
Keyword(s):  
Papillary Thyroid Carcinoma ◽  
Thyroid Carcinoma ◽  
Cancer Susceptibility ◽  
Luciferase Reporter ◽  
Nucleotide Polymorphisms ◽  
Papillary Thyroid ◽  
Enhancer Activity ◽  
Enhancer Region ◽  
Non Coding Rna ◽  
The Impact

Abstract Single nucleotide polymorphisms (SNPs) in the enhancer region have been demonstrated to confer to altered enhancer activities, aberrant gene expression, and cancer susceptibility. In this study, we aimed to examine the association between an SNP, rs8101923, within terminal differentiation-induced non-coding RNA (TINCR) and the risk of papillary thyroid carcinoma (PTC). Blood samples from 559 patients with PTC and 445 healthy individuals were collected. The rs8101923 was genotyped by using polymerase chain reaction-restriction fragment length polymorphism assay. The impact of the rs8101923 on TINCR expression and enhancer activity was evaluated by quantitative real-time PCR and dual-luciferase reporter assay. The binding of AP-2α to TINCR enhancer was determined by chromatin immunoprecipitation. The rs8101923 G allele was significantly associated with a higher risk of PTC (adjusted OR = 1.37; 95% CI: 1.15–1.64). Mechanistically, the rs8101923 was related to increased transcriptional levels and enhancer activities (P < 0.05). Transcription factor AP-2α binds to the enhancer region of TINCR containing the rs8101923 locus, and promotes cell proliferation in PTC. These findings suggest the rs8101923 as a risk factor in the pathogenesis of PTC, which provides evidence for explaining the mechanism of the rs8101923 risk allele predisposing to PTC.

Papillary thyroid carcinoma in a 9-year-old girl with ataxia-telangiectasia

2006 ◽  
Vol 50 (5) ◽  
pp. 1058-1060 ◽  
Author(s):  
Benoit Brasseur ◽  
Véronique Beauloye ◽  
Christophe Chantrain ◽  
Chantal Daumerie ◽  
Christiane Vermylen ◽  
...  
Keyword(s):  
Papillary Thyroid Carcinoma ◽  
Thyroid Carcinoma ◽  
Ataxia Telangiectasia ◽  
Papillary Thyroid

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
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