hTERT rs2736098 genetic variants and susceptibility of hepatocellular carcinoma in the Chinese population: a case-control study

Zhang, Chao; Tian, Yaping; Wang, Yue; Guo, Fuyu; Qin, Jianjie; Hóng, Ní

doi:10.1016/s1499-3872(13)60009-0

Cited by 23 publications

(28 citation statements)

References 31 publications

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“…The rs2736098 polymorphism is located within the second exon (Wick et al, 1999); however, its function is unclear and its effect on the molecular mechanism of HCC risk has not been ascertained. Our data provide strong evidence from a Chinese population that the rs2736098 [T] polymorphism increases susceptibility to HCC, which supports a previous study carried out in Tianjin (Zhang et al, 2012).…”

Section: Discussionsupporting

confidence: 90%

See 1 more Smart Citation

Polymorphisms of TERT and CLPTM1L and the Risk of Hepatocellular Carcinoma in Chinese Males

Li²,

Shen³

et al. 2014

Asian Pacific Journal of Cancer Prevention

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Section: Discussionsupporting

confidence: 90%

“…The rearrangement and instability of genomic DNA could occur through the integration of HBV DNA and hepatocyte chromosomal DNA (Zhang et al, 2012). Indeed, recent reports showed that the telomerase gene was targeted for integration in independent HCCs and HCC-derived cell lines (Brechot, 2004).…”

Section: Discussionmentioning

confidence: 99%

Polymorphisms of TERT and CLPTM1L and the Risk of Hepatocellular Carcinoma in Chinese Males

Li²,

Shen³

et al. 2014

Asian Pacific Journal of Cancer Prevention

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“…However, in contrast to the rs2736100_CC genotype that up-regulates TERT transcription, rs2736098_TT has been shown to be associated with lower TERT expression and shorter telomere length [25, 31, 43, 44]. Therefore, the reduced rs2736098_TT variant in mutant TERT promoter-bearing HCCs cannot simply be explained by its effect on TERT expression.…”

Section: Discussionmentioning

confidence: 99%

“…Mechanistically, the rs2736100 CC may up-regulate TERT expression through which its oncogenic effect is exerted [34]. The relationship between rs2736098 variants and cancer risk is complicated and risk alleles vary in different types of cancer [25, 31]. Moreover, it remains poorly understood whether and how rs2736098 variants affect TERT activity [37].…”

Section: Introductionmentioning

confidence: 99%

The TERT promoter mutation incidence is modified by germline TERT rs2736098 and rs2736100 polymorphisms in hepatocellular carcinoma

Yuan

Cheng

et al. 2017

Oncotarget

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Telomerase activation via induction of the catalytic component telomerase reverse transcriptase (TERT) plays essential roles in malignant transformation. TERT promoter-activating mutations were recently identified as a novel mechanism to activate telomerase in hepatocellular carcinoma (HCC) and many other malignancies. In addition, single nucleotide polymorphisms (SNPs) in the TERT rs2736098 and rs2736100 are significantly associated with cancer susceptibility. It is currently unclear whether different germline TERT variants modify TERT promoter mutations. Here we analyzed the TERT promoter status and genotyped the TERT SNPs at rs2736098 and rs2736100 in patients with HCC. Thirty percent of HCCs harbored TERT promoter mutations and there was a significant difference in rs2736098 and rs2736100 genotypes between wt and mutant TERT promoter-bearing HCC tumors (P = 0.007 and 0.018, respectively). For rs2736100, the cancer risk genotype CC was significantly associated with a reduced incidence of TERT promoter mutations compared to AA + AC variants [Odds ratio (OR): 0.181, 95% Confidence interval (CI): 0.0543–0.601, P = 0.004]. The rs2736098_CT genotype was significantly associated with the TERT promoter mutation-positive tumors compared to the TT genotype (OR: 5.391, 95% CI: 1.234–23.553, P = 0.025). These differences in genotype distribution did not differ between patients with a wt TERT promoter and controls. The presence of TERT promoter mutations was not associated with clinico-pathological variables. Taken together, the germline TERT genetic background may significantly affect the onset of TERT promoter mutations in HCCs, which provides a better understanding of HCC-related TERT promoter mutations and telomerase regulation in cancer.

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“…All three SNPs (rs402710C/T in the CLPTM1L gene; rs2736100A/C and rs2736098 G/A in the TERT gene) were genotyped using the polymerase chain reaction (PCR), restriction fragment length polymorphism (RFLP) method, as described previously (11,12). Primers and product lengths are given in Table 1.…”

Section: Genotyping Of Polymorphismsmentioning

confidence: 99%

The role of TERT-CLPTM1L SNPs, hTERT expression and telomere length in the pathogenesis of oral squamous cell carcinoma

et al. 2016

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The aim of this study was to assess TERT-CLPTM1L single-nucleotide polymorphisms (SNPs) (rs402710 C/T in the CLPTM1L gene; rs2736100 A/C and rs2736098 G/A in the TERT gene) as risk factors for development of oral squamous cell carcinoma (OSCC), and to investigate the relationship between the analyzed polymorphisms, relative telomere length (RTL), telomerase expression and clinicopathologic characteristics of OSCC in a Serbian population. Paraffin-embedded tumor samples and buccal swabs from cancer-free controls were genotyped using PCR-RFLP, while tumor RTL values and telomerase expression were estimated by real-time PCR and immunohistochemistry, respectively. CLPTM1L rs402710 and TERT rs2736100 polymorphisms were associated with a significantly increased risk of OSCC, and TERT rs2736098 with a significantly decreased risk. No significant association was found between TERT-CLPTM1L polymorphisms, tumor RTL values, telomerase expression, and clinicopathologic features, although a trend towards longer telomeres was evident in telomerase-positive samples and less advanced tumors. Kaplan-Meier survival analysis showed that patients with longer telomeres in their tumors had significantly better overall survival than patients with shorter telomeres. Our research seems to provide strong evidence for an association between CLPTM1L rs402710C/T and TERT rs2736100A/C SNPs and the risk of OSSC, and suggests that higher tumor RTL values and positive hTERT expression may be applicable as early prognostic markers. (J Oral Sci 58, [449][450][451][452][453][454][455][456][457][458] 2016)

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hTERT rs2736098 genetic variants and susceptibility of hepatocellular carcinoma in the Chinese population: a case-control study

Cited by 23 publications

References 31 publications

Polymorphisms of TERT and CLPTM1L and the Risk of Hepatocellular Carcinoma in Chinese Males

Polymorphisms of TERT and CLPTM1L and the Risk of Hepatocellular Carcinoma in Chinese Males

The TERT promoter mutation incidence is modified by germline TERT rs2736098 and rs2736100 polymorphisms in hepatocellular carcinoma

The role of TERT-CLPTM1L SNPs, hTERT expression and telomere length in the pathogenesis of oral squamous cell carcinoma

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