rs2853669
This is a regulatory region variant variant in the TERT gene.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
respiratory system cancer
breast carcinoma
ovarian carcinoma
▶ClinVar annotation
Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis; not specified
View on ClinVar →▶Research that mentions this SNP (4)
▶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 PopulationAssociationN=828Yan‐li Xing et al.(2016)· Journal of Clinical Laboratory Analysis
Case-control study of 828 Chinese Han participants (410 NSCLC cases, 418 controls) examining TERT gene polymorphisms and their SNP-SNP interactions on non-small cell lung cancer risk. Carriers of the G allele at rs2736100 showed increased NSCLC risk (OR=1.68, 95% CI: 1.28-2.07), as did carriers of the A allele at rs2736098 (OR=1.52, 95% CI: 1.19-1.93). A significant gene-gene interaction was found between rs2736098 and rs2736100 (OR=2.52, 95% CI: 1.68-3.68 for GA/AA and TG/GG combined genotypes versus reference).
▶Association of human telomerase reverse transcriptase gene polymorphisms, serum levels, and telomere length with renal cell carcinoma risk and pathologyMeta-analysisN=269,720Michela de Martino et al.(2016)· Molecular Carcinogenesis
A meta-analysis of 72 studies comprising 108,248 cases and 161,472 controls found that the TERT rs2736100 T>G polymorphism increases overall cancer risk by 16-39% (OR = 1.17-1.39 across genetic models). Stratified analysis showed strongest associations with lung cancer (OR = 1.24-1.60), and also elevated risk for thyroid cancer, bladder cancer, glioma, myeloproliferative neoplasms, and acute myeloid leukemia, with decreased colorectal cancer risk.
▶Mutations in TERT promoter and FGFR3 and telomere length in bladder cancerAssociationN=327Hosen I. et al.(2015)· International Journal of Cancer
This study examined TERT promoter mutations, FGFR3 mutations, and relative telomere length in 327 urothelial bladder cancer tumors. TERT promoter mutations occurred more frequently (65.4%) than FGFR3 mutations (34.3%), and both mutations co-occurred more than expected (OR=4.93). TERT promoter mutations in the absence of the variant allele of rs2853669 were associated with increased overall mortality risk (OR=2.15) and disease recurrence (OR=3.68 in TaG1/TaG2 patients). Tumors with TERT promoter and/or FGFR3 mutations had significantly shorter telomeres than wild-type tumors.
▶hTERT Cancer Risk Genotypes Are Associated With Telomere LengthAssociationN=280Beatrice S. Melin et al.(2012)· Genetic Epidemiology
A case-control study of 280 COVID-19 patients (143 hospitalized, 137 non-hospitalized) from Brazil investigated the association of TERT gene polymorphisms rs2853669 and rs2736100 with COVID-19 severity. The rs2853669 G allele was associated with aneurysms/strokes (p=0.026), flu-like illness (p=0.021), hormonal changes (p=0.004), and thromboembolism (p=0.029). The rs2736100 C allele showed increased risk of sepsis (p=0.042) and mortality (p=0.048, OR=1.674). This is the first study examining these TERT polymorphisms in Brazilian COVID-19 patients.
About TERT
Telomerase is a ribonucleoprotein polymerase that maintains telomere ends by addition of the telomere repeat TTAGGG. The enzyme consists of a protein component with reverse transcriptase activity, encoded by this gene, and an RNA component which serves as a template for the telomere repeat. Telomerase expression plays a role in cellular senescence, as it is normally repressed in postnatal somatic cells resulting in progressive shortening of telomeres. Deregulation of telomerase expression in somatic cells may be involved in oncogenesis. Studies in mouse suggest that telomerase also participates in chromosomal repair, since de novo synthesis of telomere repeats may occur at double-stranded breaks. Alternatively spliced variants encoding different isoforms of telomerase reverse transcriptase have been identified; the full-length sequence of some variants has not been determined. Alternative splicing at this locus is thought to be one mechanism of regulation of telomerase activity. [provided by RefSeq, Jul 2008]
View all TERT variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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