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rs2736098

Chromosome : 5 , Position: 1293971

Most conditions are affected by anywhere from hundreds to millions of genetic variants (SNPs). A single SNP usually has a minor contribution to a person’s overall genetic risk for a certain condition. That is why you shouldn't consider or act on a SNP in isolation. Instead, we use SNPs to determine polygenic risk scores (PRSs), which are the basis of most health reports.

Reference Allele: C

Alternative Alleles: T

Associated Genes

TERT

CLPTM1L

SLC6A18

SLC6A19

SLC6A3

SLC12A7

LPCAT1

NKD2

BRD9

TRIP13

ZDHHC11

Traits

Trait	Variant	PMID	Author (year)
None of the above (group 2) \| illnesses of father	T	Unknown journal	UKB Neale v2 (2018)
Pancreatic cancer	T	Nat Commun	Klein AP (2018)
Prostate cancer	T	Nat Genet	Conti DV (2021)

Summary

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 19151717] 23andMe blog rs2736098 and rs401681 linked to many cancers

[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.

[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

More Information