rs2736108

This is a regulatory region variant variant in the TERT gene.

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GWAS Catalog Trait Associations (2)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

breast cancer, lung cancer

Guo H et al. “A genome-wide cross-cancer meta-analysis highlights the shared genetic links of five solid cancers.” Frontiers in Microbiology 14:1116592 (2023)

Allele C

OR —

p 5.0e-24

N 256,160

Meta-analysisLarge GWAS

breast carcinoma

Michailidou K et al. “Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer.” Nature Genetics 47(4):373-80 (2015)

Allele C

OR 1.06

p 2.0e-9

N 33,832

Large GWAS

European

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ClinVar annotation

Benign★☆☆☆

1 submitter1 publication

Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis

View on ClinVar →

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Research that mentions this SNP (1)

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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

AssociationN=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).

Traits studied:Lung adenocarcinomaLung cancerNon-small cell lung cancer

PubMed DOI Metascience Observatory

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]