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rs2736100

Chromosome : 5 , Position: 1286401

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: A

Associated Genes

TERT

CLPTM1L

SLC6A18

SLC6A19

SLC12A7

SLC6A3

LPCAT1

NKD2

BRD9

TRIP13

ZDHHC11

Traits

Trait	Variant	PMID	Author (year)
Intrinsic epigenetic age acceleration	A	Genome Biol	McCartney DL (2021)
Red blood cell count	A	Nat Genet	Kamatani Y (2010)
Mean corpuscular hemoglobin	A	Cell	Astle WJ (2016)
Eosinophill percentage	A	Unknown journal	UKB Neale v2 (2018)
Mean platelet volume	A	Cell	Astle WJ (2016)
Adult diffuse glioma (IDH wildtype)	A	Neuro Oncol	Eckel-Passow JE (2020)
EGFR mutation-positive lung adenocarcinoma	A	Nat Commun	Shiraishi K (2016)
Glioma	A	Nat Genet	Shete S (2009)
Glioma (high-grade)	A	Nat Genet	Walsh KM (2014)
Idiopathic pulmonary fibrosis	A	J Med Genet	Mushiroda T (2008)
Interstitial lung disease	A	Nat Genet	Fingerlin TE (2013)
Lung adenocarcinoma	A	Am J Hum Genet	Landi MT (2009)
Lung cancer	A	Nat Genet	Lan Q (2012)
Mean corpuscular volume	A	Am J Hum Genet	van Rooij FJA (2016)
Myeloid clonal hematopoiesis	A	Leukemia	Dawoud AAZ (2020)
Platelet count	A	Nat Genet	Kanai M (2018)
Testicular germ cell cancer	A	Nat Genet	Turnbull C (2010)
Testicular germ cell tumor	A	Nat Genet	Wang Z (2017)

Summary

Testicular Cancer

[PMID 23370545] Hierarchical modeling identifies novel lung cancer susceptibility variants in inflammation pathways among 10,140 cases and 11,012 controls

[PMID 23115063] Known glioma risk loci are associated with glioma with a family history of brain tumours — a case-control gene association study

[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

[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

[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.

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