|(A;A)||slightly increased risk for several types of cancers|
|(A;G)||slightly increased risk for several types of cancers|
A 2014 study "Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer" of 7,683 European cases and 14,397 controls found the minor allele rs2736098(A) in TERT (telomerase reverse transcriptase) conferring a protective effect of statistically genome-wide significance (per-allele odds ratio (OR) = 0.80, 95% confidence interval (CI) 0.76-0.85, P = 9.8E-14) against Pancreatic cancer.
For example [PMID 23244087] indicates the A allele might be risk-factor for Asians but protective for Europeans.PMID 19773453] Polymorphisms in telomere maintenance genes and risk of lung cancer [PMID 21160077] Genetic correction of PSA values using sequence variants associated with PSA levels
[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 21820706] Prostate Cancer Risk Alleles and Their Associations With Other Malignancies
[PMID 22041560] [The relationship between gene polymorphism of telomerase reverse transcriptase and susceptibility to hepatocellular carcinoma]
[PMID 22495810] Association of genetic variants of human telomerase with colorectal polyps and colorectal cancer risk
[PMID 17267408] Allelic imbalance in gene expression as a guide to cis-acting regulatory single nucleotide polymorphisms in cancer cells.
[PMID 18978790] Lung cancer susceptibility locus at 5p15.33.
[PMID 19774073] Genetic epidemiology of glioblastoma multiforme: confirmatory and new findings from analyses of human leukocyte antigen alleles and motifs.
[PMID 20802237] Genetic variations in TERT-CLPTM1L genes and risk of squamous cell carcinoma of the head and neck.
[PMID 21081471] Genetic variations on chromosomes 5p15 and 15q25 and bladder cancer risk: findings from the Los Angeles-Shanghai bladder case-control study.
[PMID 22136229] Genetic variation in TERT and TERC and human leukocyte telomere length and longevity: a cross-sectional and longitudinal analysis.
[PMID 22228261] Common genetic variants in TERT contribute to risk of cervical cancer in a Chinese population.
|Disease||Dyskeratosis congenita autosomal dominant Aplastic anemia not specified Dyskeratosis Congenita Idiopathic fibrosing alveolitis|
|CLNDBN||Dyskeratosis congenita autosomal dominant Aplastic anemia not specified Dyskeratosis Congenita, Recessive Idiopathic fibrosing alveolitis, chronic form|
|CLNACC||RCV000032400.1, RCV000144244.2, RCV000151999.3, RCV000259572.1, RCV000354373.1,|
[PMID 22994782] TERT rs2736098 Polymorphism and Cancer Risk: Results of a Meta-analysis
[PMID 23244087] Association of TERT rs2736098 Polymorphism with Cancer Risk: a Meta-analysis
[PMID 23392802] hTERT rs2736098 genetic variants and susceptibility of hepatocellular carcinoma in the Chinese population: a case-control study
[PMID 23738012] Genetic Variations in TERT-CLPTM1L Genes and Risk of Lung Cancer in Chinese Women Nonsmokers
[PMID 23937305] Validation of association of genetic variants at 10q with prostate-specific antigen (PSA) levels in men at high risk for prostate cancer
[PMID 24171766] Common low-penetrance risk variants associated with breast cancer in Polish women
[PMID 24260099] Association between the Telomerase Reverse Transcriptase (TERT) rs2736098 Polymorphism and Cancer Risk: Evidence from a Case-Control Study of Non-Small-Cell Lung Cancer and a Meta-Analysis
[PMID 23085811] Tobacco consumption and genetic susceptibility to nasopharyngeal carcinoma (NPC) in Thailand.
[PMID 23159463] Genetic sequence variants are associated with severity of lower urinary tract symptoms and prostate cancer susceptibility.
[PMID 23246478] Personalized prostate specific antigen testing using genetic variants may reduce unnecessary prostate biopsies.
[PMID 23535824] Fine-mapping identifies multiple prostate cancer risk loci at 5p15, one of which associates with TERT expression.
[PMID 24761905] Genetic Variations in TERT-CLPTM1L Genes and Risk of Lung Cancer in a Chinese Population
[PMID 24861918] Genetic polymorphisms of TERT and CLPTM1L and risk of lung cancer: a case-control study in northeast Chinese male population
[PMID 25007268] TERT-CLPTM1L Rs401681 C>T Polymorphism Was Associated with a Decreased Risk of Esophageal Cancer in a Chinese Population
[PMID 25027329] Imputation and subset based association analysis across different cancer types identifies multiple independent risk loci in the TERT-CLPTM1L region on chromosome 5p15.33
[PMID 25218484] Replicative study of GWAS TP63C/T, TERTC/T, and SLC14A1C/T with susceptibility to bladder cancer in North Indians
[PMID 25491902] Association between hTERT polymorphisms and the risk of breast cancer in a sample of Southeast Iranian population
[PMID 25086665] Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer
[PMID 25254308] Polymorphisms in the TERT gene are associated with lung cancer risk in the Chinese Han population
[PMID 26294352] Association of human telomerase reverse transcriptase gene polymorphisms, serum levels, and telomere length with renal cell carcinoma risk and pathology
[PMID 26372813] Genetic variations in the TERT and CLPTM1L gene region and gastrointestinal stromal tumors risk
[PMID 26491349] Increased risk of developing lung cancer in Asian patients carrying the TERT rs2736098 G>A polymorphism: evidence from 3,354 cases and 3,518 controls
[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 28300824] Association Between the Telomerase rs2736098_TT Genotype and a Lower Risk of Chronic Hepatitis B and Cirrhosis in Chinese Males.
[PMID 28416747] The TERT promoter mutation incidence is modified by germline TERT rs2736098 and rs2736100 polymorphisms in hepatocellular carcinoma.