|(G;G)||1.6||1.6x higher risk for glioma development|
|(G;T)||1.3||1.3x higher risk for glioma development, 2.1x risk of pulmonary fibrosis|
|(T;T)||2||higher risk of Interstitial lung disease, and testicular cancer, 2.1x risk of pulmonary fibrosis|
|Trait||Idiopathic pulmonary fibrosis|
|Title||A genome-wide association study identifies an association of a common variant in TERT with susceptibility to idiopathic pulmonary fibrosis|
|Odds Ratio||2.11 [1.61-2.78]|
|Title||Genome-wide association study identifies five susceptibility loci for glioma|
|Odds Ratio||1.27 [1.19-1.37]|
|Title||A Genome-wide Association Study of Lung Cancer Identifies a Region of Chromosome 5p15 Associated with Risk for Adenocarcinoma|
|Odds Ratio||1.12 [1.08-1.16]|
[PMID 20056643] A rigorous and comprehensive validation: common genetic variations and lung cancer
|Trait||Hematological and biochemical traits|
|Title||Genome-wide association study of hematological and biochemical traits in a Japanese population|
|Odds Ratio||0.21 [NR] % variance|
[PMID 20462933] Interaction between 5 genetic variants and allergy in glioma risk
|Trait||Testicular germ cell cancer|
|Title||Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer|
|Odds Ratio||1.33 [1.18-1.50]|
[PMID 20700438] The 5p15.33 locus is associated with risk of lung adenocarcinoma in never-smoking females in Asia
[PMID 20847058] Genetic risk profiles identify different molecular etiologies for glioma
[PMID 20871597] Variation in TP63 is associated with lung adenocarcinoma susceptibility in Japanese and Korean populations
[PMID 20211558] Genetic advances in glioma: susceptibility genes and networks
[PMID 21350045] Association of sequence variants on chromosomes 20, 11, and 5 (20q13.33, 11q23.3, and 5p15.33) with glioma susceptibility in a Chinese population
[PMID 21731055] Worldwide genetic structure in 37 genes important in telomere biology
|Title||Chromosome 7p11.2 (EGFR) variation influences glioma risk.|
|Odds Ratio||1.2500 [NR]|
|Title||A genome-wide association study identifies two new lung cancer susceptibility loci at 13q12.12 and 22q12.2 in Han Chinese.|
|Odds Ratio||1.2700 [1.22-1.33]|
[PMID 22041560] [The relationship between gene polymorphism of telomerase reverse transcriptase and susceptibility to hepatocellular carcinoma]
[PMID 22221621] The TERT rs2736100 Polymorphism and Cancer Risk: A Meta-analysis Based on 25 Case-Control Studies
|Title||Combinations of newly confirmed Glioma-Associated loci link regions on chromosomes 1 and 9 to increased disease risk.|
|Odds Ratio||None None|
[PMID 22404340] Replication of results of genome-wide association studies on lung cancer susceptibility loci in a Korean population
[PMID 22495810] Association of genetic variants of human telomerase with colorectal polyps and colorectal cancer risk
[PMID 22662130] Using Prior Information from the Medical Literature in GWAS of Oral Cancer Identifies Novel Susceptibility Variant on Chromosome 4 - the AdAPT Method
[PMID 18978790] Lung cancer susceptibility locus at 5p15.33.
[PMID 19369581] Common genetic variants on 5p15.33 contribute to risk of lung adenocarcinoma in a Chinese population.
[PMID 19578366] Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibility.
[PMID 19654303] Deciphering the impact of common genetic variation on lung cancer risk: a genome-wide association study.
[PMID 19955392] Role of 5p15.33 (TERT-CLPTM1L), 6p21.33 and 15q25.1 (CHRNA5-CHRNA3) variation and lung cancer risk in never-smokers.
[PMID 20061363] Individuals susceptible to lung adenocarcinoma defined by combined HLA-DQA1 and TERT genotypes.
[PMID 20212223] New insights into susceptibility to glioma.
[PMID 20548021] Replication of lung cancer susceptibility loci at chromosomes 15q25, 5p15, and 6p21: a pooled analysis from the International Lung Cancer Consortium.
[PMID 20628624] Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility "hot-spot".
[PMID 21081471] Genetic variations on chromosomes 5p15 and 15q25 and bladder cancer risk: findings from the Los Angeles-Shanghai bladder case-control study.
[PMID 21825990] Genetic causes of glioma: new leads in the labyrinth.
[PMID 22228261] Common genetic variants in TERT contribute to risk of cervical cancer in a Chinese population.
[PMID 22267287] Telomere length and genetic variation in telomere maintenance genes in relation to ovarian cancer risk.
[PMID 22370939] Multiple variants of TERT and CLPTM1L constitute risk factors for lung adenocarcinoma.
[PMID 22523397] Telomerase reverse transcriptase locus polymorphisms and cancer risk: a field synopsis and meta-analysis.
[PMID 22539396] hTERT cancer risk genotypes are associated with telomere length.
|qualified_impact||Insufficiently evaluated pathogenic|
|Title||Genome-wide association analysis identifies new lung cancer susceptibility loci in never-smoking women in Asia.|
|Odds Ratio||1.38 [1.30-1.47]|
[PMID 23370545] Hierarchical modeling identifies novel lung cancer susceptibility variants in inflammation pathways among 10,140 cases and 11,012 controls
|Title||Genome-wide association study of glioma and meta-analysis.|
|Odds Ratio||1.30 [1.19-1.41]|
[PMID 23115063] Known glioma risk loci are associated with glioma with a family history of brain tumours -- a case-control gene association study
|Trait||Interstitial lung disease|
|Title||Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.|
|Odds Ratio||1.37 [1.27-1.49]|
[PMID 23161787] Association between glioma susceptibility loci and tumour pathology defines specific molecular etiologies
[PMID 24269974] Genetic variants in telomerase reverse transcriptase (TERT) and telomerase-associated protein 1 (TEP1) and the risk of male infertility
[PMID 24283584] TERT Genetic Polymorphism rs2736100 Was Associated with Lung Cancer: A Meta-Analysis Based on 14,492 Subjects
[PMID 24434656] Association between MUC5 B and TERT polymorphisms and different interstitial lung disease phenotypes
[PMID 24465664] The GG Genotype of Telomerase Reverse Transcriptase at Genetic Locus rs2736100 Is Associated with Human Atherosclerosis Risk in the Han Chinese Population
[PMID 24476768] The germline sequence variant rs2736100_C in TERT associates with myeloproliferative neoplasms
[PMID 24590268] Increased lung cancer risk associated with the TERT rs2736100 polymorphism: an updated meta-analysis
[PMID 22711262] Systematic evaluation of bladder cancer risk-associated single-nucleotide polymorphisms in a Chinese population.
[PMID 22878375] The TERT variant rs2736100 is associated with colorectal cancer risk.
[PMID 23368278] Significant association of 5p15.33 (TERT-CLPTM1L genes) with lung cancer in Chinese Han population.
[PMID 23433592] Genetic polymorphisms of TERT and CLPTM1L and risk of lung cancer--a case-control study in a Chinese population.
[PMID 23454887] Role of selected genetic variants in lung cancer risk in African Americans.
[PMID 23535824] Fine-mapping identifies multiple prostate cancer risk loci at 5p15, one of which associates with TERT expression.
[PMID 23733245] Genetic variants in telomerase-related genes are associated with an older age at diagnosis in glioma patients: evidence for distinct pathways of gliomagenesis.
[PMID 24904205] Association between previously identified loci affecting telomere length and coronary heart disease (CHD) in Han Chinese population
[PMID 25037574] Genetic polymorphisms of TERT and CLPTM1L, cooking oil fume exposure, and risk of lung cancer: a case-control study in a Chinese non-smoking female population
[PMID 24615522] Quantitative assessment of common genetic variants on chromosome 5p15 and lung cancer risk
|Title||A genome-wide association study identifies a locus on TERT for mean telomere length in Han Chinese.|
|Odds Ratio||.08 [NR] unit increase|
[PMID 25314060] TERT promoter mutations in gliomas, genetic associations and clinico-pathological correlations
[PMID 25381796] Telomere Length and the Risk of Atrial Fibrillation: Insights into the Role of Biological versus Chronological Aging
|Title||Variants near TERT and TERC influencing telomere length are associated with high-grade glioma risk.|
|Odds Ratio||1.39 [1.28-1.50]|
[PMID 25738283] Association of genetic polymorphisms in the telomerase reverse transcriptase gene with prostate cancer aggressiveness
[PMID 25785013] Telomerase reverse transcriptase (TERT) rs2736100 polymorphism contributes to increased risk of glioma: evidence from a meta-analysis
[PMID 26025910] Telomere length, genetic variants and gastric cancer risk in a Chinese population
[PMID 26143636] TERT promoter mutations and polymorphisms as prognostic factors in primary glioblastoma
[PMID 26243184] An Updated and Comprehensive Meta-Analysis of Association Between Seven Hot Loci Polymorphisms from Eight GWAS and Glioma Risk
[PMID 26294352] Association of human telomerase reverse transcriptase gene polymorphisms, serum levels, and telomere length with renal cell carcinoma risk and pathology
[PMID 26406970] hTERT genetic variation in depression
[PMID 26014354] CCDC26, CDKN2BAS, RTEL1 and TERT Polymorphisms in pediatric brain tumor susceptibility
[PMID 26487696] Co-occurrence of myeloproliferative neoplasms and solid tumors is attributed to a synergism between cytoreductive therapy and the common TERT polymorphism rs2736100
[PMID 26554909] Genetic Polymorphism, Telomere Biology and Non-Small Lung Cancer Risk
[PMID 26590902] Fine-mapping of chromosome 5p15.33 based on a targeted deep sequencing and high density genotyping identifies novel lung cancer susceptibility loci
[PMID 26716642] The identification of two regulatory ESCC susceptibility genetic variants in the TERT-CLPTM1L loci.
[PMID 26934125] The association between the TERT rs2736100 AC genotype and reduced risk of upper tract urothelial carcinomas in a Han Chinese population.
[PMID 27162544] Combining Telomerase Reverse Transcriptase Genetic Variant rs2736100 with Epidemiologic Factors in the Prediction of Lung Cancer Susceptibility.
[PMID 27154632] Case-Control Study on Impact of the Telomerase Reverse Transcriptase Gene Polymorphism and Additional Single Nucleotide Polymorphism (SNP)- SNP Interaction on Non-Small Cell Lung Cancers Risk in Chinese Han Population.
[PMID 27185198] Functional evaluation of TERT-CLPTM1L genetic variants associated with susceptibility of papillary thyroid carcinoma.
[PMID 28233563] Genetic predisposition to advanced biological ageing increases risk for childhood-onset recurrent major depressive disorder in a large UK sample.
[PMID 28300824] Association Between the Telomerase rs2736098_TT Genotype and a Lower Risk of Chronic Hepatitis B and Cirrhosis in Chinese Males.