TERT Gene rs2736100 and rs2736098 Polymorphisms are Associated with Increased Cancer Risk: A Meta-Analysis

Zhang, Xinyu; Chen, Yan; Yan, Donglin; Han, Jing; Zhu, Lucheng

doi:10.1007/s10528-021-10097-0

Cited by 13 publications

(8 citation statements)

References 88 publications

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“…The most intensively studied polymorphisms associated with multiple types of cancers are rs2736100 and rs2736098. Meta analysis conducted by Zhang et al [ 89 ] showed association between rs2736100 and an increased risk of thyroid cancer, bladder cancer, lung cancer, glioma, and myeloproliferative neoplasms. Further still, rs2736098 was shown to increase the risk of bladder and lung cancer, while both variants were associated with a decreased risk of breast and colorectal cancer and an increased cancer risk across all studied populations [ 84 , 89 ].…”

Section: Telomeres In Health and Diseasementioning

confidence: 99%

“…Meta analysis conducted by Zhang et al [ 89 ] showed association between rs2736100 and an increased risk of thyroid cancer, bladder cancer, lung cancer, glioma, and myeloproliferative neoplasms. Further still, rs2736098 was shown to increase the risk of bladder and lung cancer, while both variants were associated with a decreased risk of breast and colorectal cancer and an increased cancer risk across all studied populations [ 84 , 89 ]. Moreover, Tian et al [ 90 ] found 13 variants within the TERT-CLPTM1L 5p15.33 chromosomal region associated with susceptibility to 11 various cancers and 1 non-cancer disease (idiopathic pulmonary fibrosis).…”

Section: Telomeres In Health and Diseasementioning

confidence: 99%

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Telomere Length Changes in Cancer: Insights on Carcinogenesis and Potential for Non-Invasive Diagnostic Strategies

Holesova

Krasnicanova

Saade

et al. 2023

Genes

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Telomere dynamics play a crucial role in the maintenance of chromosome integrity; changes in telomere length may thus contribute to the development of various diseases including cancer. Understanding the role of telomeric DNA in carcinogenesis and detecting the presence of cell-free telomeric DNA (cf-telDNA) in body fluids offer a potential biomarker for novel cancer screening and diagnostic strategies. Liquid biopsy is becoming increasingly popular due to its undeniable benefits over conventional invasive methods. However, the organization and function of cf-telDNA in the extracellular milieu are understudied. This paper provides a review based on 3,398,017 cancer patients, patients with other conditions, and control individuals with the aim to shed more light on the inconsistent nature of telomere lengthening/shortening in oncological contexts. To gain a better understanding of biological factors (e.g., telomerase activation, alternative lengthening of telomeres) affecting telomere homeostasis across different types of cancer, we summarize mechanisms responsible for telomere length maintenance. In conclusion, we compare tissue- and liquid biopsy-based approaches in cancer assessment and provide a brief outlook on the methodology used for telomere length evaluation, highlighting the advances of state-of-the-art approaches in the field.

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Section: Telomeres In Health and Diseasementioning

confidence: 99%

Section: Telomeres In Health and Diseasementioning

confidence: 99%

Telomere Length Changes in Cancer: Insights on Carcinogenesis and Potential for Non-Invasive Diagnostic Strategies

Holesova

Krasnicanova

Saade

et al. 2023

Genes

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“…Studies also have found that the increased telomere length of the C allele is associated with cancer 44 . Some studies have also shown an increased frequency of the C allele of TERT rs2736100 in LC patients 9 , 45 – 48 . These evidences imply that the C allele upregulates TERT expression, maintains and prolongs telomere length, and thus increases the risk of LC.…”

Section: Introductionmentioning

confidence: 98%

“…Several meta-analyses have reported the association of the TERT rs2736100 polymorphism with LC, but these meta-analyses have some shortcomings: some meta-analyses have shown an increased frequency of the C allele of TERT rs2736100 in LC patients but they ignored the effect of different ethnic groups 53 , 54 ; there are some meta-analyses of ethnic stratification of rs2736100, but most of them focused on different types of cancer, and they were not subjected to a stratified analysis of LC 48 ; some studies have done racially stratified meta-analyses for different types of LC, however, they are outdated 55 . Therefore, there is still a lack of a unified conclusion on the association of TERT rs2736100 polymorphism with LC, especially the variability of this association in different ethnic populations and in different LC subtypes.…”

Section: Introductionmentioning

confidence: 99%

Ethnicity-specific association between TERT rs2736100 (A > C) polymorphism and lung cancer risk: a comprehensive meta-analysis

Huang

et al. 2023

Sci Rep

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The rs2736100 (A > C) polymorphism of the second intron of Telomerase reverse transcriptase (TERT) has been confirmed to be closely associated with the risk of Lung cancer (LC), but there is still no unified conclusion on the results of its association with LC. This study included Genome-wide association studies (GWAS) and case–control studies reported so far on this association between TERT rs2736100 polymorphism and LC to clarify such a correlation with LC and the differences in it between different ethnicities and different types of LC. Relevant literatures published before May 7, 2022 on ‘TERT rs2736100 polymorphism and LC susceptibility’ in PubMed, EMbase, CENTRAL, MEDLINE databases were searched through the Internet, and data were extracted. Statistical analysis of data was performed in Revman5.3 software, including drawing forest diagrams, drawing funnel diagrams and so on. Sensitivity and publication bias analysis were performed in Stata 12.0 software. The C allele of TERT rs2736100 was associated with the risk of LC (Overall population: [OR] = 1.21, 95%CI [1.17, 1.25]; Caucasians: [OR] = 1.11, 95%CI [1.06, 1.17]; Asians: [OR] = 1.26, 95%CI [1.21, 1.30]), and Asians had a higher risk of LC than Caucasians (C vs. A: Caucasians: [OR] = 1.11 /Asians: [OR]) = 1.26). The other gene models also showed similar results. The results of stratified analysis of LC patients showed that the C allele was associated with the risk of Non-small-cell lung carcinoma (NSCLC) and Lung adenocarcinoma (LUAD), and the risk of NSCLC and LUAD in Asians was higher than that in Caucasians. The C allele was associated with the risk of Lung squamous cell carcinoma (LUSC) and Small cell lung carcinoma(SCLC) in Asians but not in Caucasians. NSCLC patients ([OR] = 1.27) had a stronger correlation than SCLC patients ([OR] = 1.03), and LUAD patients ([OR] = 1.32) had a stronger correlation than LUSC patients ([OR] = 1.09).In addition, the C allele of TERT rs2736100 was associated with the risk of LC, NSCLC and LUAD in both smoking groups and non-smoking groups, and the risk of LC in non-smokers of different ethnic groups was higher than that in smokers. In the Asians, non-smoking women were more at risk of developing LUAD. The C allele of TERT rs2736100 is a risk factor for LC, NSCLC, and LUAD in different ethnic groups, and the Asian population is at a more common risk. The C allele is a risk factor for LUSC and SCLC in Asians but not in Caucasians. And smoking is not the most critical factor that causes variation in TERT rs2736100 to increase the risk of most LC (NSCLC, LUAD). Therefore, LC is a multi-etiological disease caused by a combination of genetic, environmental and lifestyle factors.

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“…Even though numerous genetic association studies investigate the association of variant in TERT and CLPTM1L regions and cancers or non-cancer disease susceptibility, the conclusions are not always consistent and the functional mechanisms remain unclear. Although, in previous published meta-analysis studies, a single SNP (for example, rs2736100 and rs2736098) with risk of individual cancer ( 18 – 20 ) was investigated, the results were still inconsistent. Besides, a comprehensive research synopsis with systematic functional annotation had not been performed to evaluate the epidemiological evidence of genetic correlations between TERT and CLPTM1L genes and susceptibility to cancers or non-cancer disease until now.…”

Section: Introductionmentioning

confidence: 99%

Cumulative Evidence for Relationships Between Multiple Variants in the TERT and CLPTM1L Region and Risk of Cancer and Non-Cancer Disease

et al. 2022

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BackgroundGenetic studies previously reported that variants in TERT-CLPTM1L genes were related to susceptibility of cancer and non-cancer diseases. However, conclusions were not always concordant.MethodsWe performed meta-analyses to assess correlations between 23 variants within TERT-CLPTM1L region and susceptibility to 12 cancers and 1 non-cancer disease based on data in 109 papers (involving 139,510 cases and 208,530 controls). Two approaches (false-positive report probability test and Venice criteria) were adopted for assessing the cumulative evidence of significant associations. Current study evaluated the potential role of these variants based on data in Encyclopedia of DNA Elements (ENCODE) Project.ResultsThirteen variants were statistically associated with susceptibility to 11 cancers and 1 non-cancer disease (p < 0.05). Besides, 12 variants with eight cancers and one non-cancer disease were rated as strong evidence (rs2736098, rs401681, and rs402710 in bladder cancer; rs2736100, rs2853691, and rs401681 in esophageal cancer; rs10069690 in gastric cancer; rs2736100 and rs2853676 in glioma; rs2242652, rs2736098, rs2736100, rs2853677, rs31489, rs401681, rs402710, rs465498, and rs4975616 in lung cancer; rs2736100 in idiopathic pulmonary fibrosis and myeloproliferative neoplasms; and rs401681 in pancreatic and skin cancer). According to data from ENCODE and other public databases, 12 variants with strong evidence might fall within putative functional regions.ConclusionsThis paper demonstrated that common variants of TERT-CLPTM1L genes were related to susceptibility to bladder, esophageal, gastric, lung, pancreatic, and skin cancer, as well as to glioma, myeloproliferative neoplasms, and idiopathic pulmonary fibrosis, and, besides, the crucial function of the TERT-CLPTM1L region in the genetic predisposition to human diseases is elucidated.

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TERT Gene rs2736100 and rs2736098 Polymorphisms are Associated with Increased Cancer Risk: A Meta-Analysis

Cited by 13 publications

References 88 publications

Telomere Length Changes in Cancer: Insights on Carcinogenesis and Potential for Non-Invasive Diagnostic Strategies

Telomere Length Changes in Cancer: Insights on Carcinogenesis and Potential for Non-Invasive Diagnostic Strategies

Ethnicity-specific association between TERT rs2736100 (A > C) polymorphism and lung cancer risk: a comprehensive meta-analysis

Cumulative Evidence for Relationships Between Multiple Variants in the TERT and CLPTM1L Region and Risk of Cancer and Non-Cancer Disease

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