ArticleHuman mutation2010
The association of telomere length and genetic variation in telomere biology genes.
Article in Human mutation, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 72 papers, 8 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
72 citing papers in PubMed, 8 syntheses or guidelines pooled it, 107 citations in OpenAlex.
- The relationship between physical activity and telomere length in women: A systematic review.Mechanisms of ageing and development · 2025Pooled it
- The Effect of Alcohol on Telomere Length: A Systematic Review of Epidemiological Evidence and a Pilot Study during Pregnancy.International journal of environmental research and public health · 2021Pooled it
- Association between shortened telomere length and rheumatoid arthritis : A meta-analysis.Zeitschrift fur Rheumatologie · 2018Pooled it
- Association between TERT rs2853669 polymorphism and cancer risk: A meta-analysis of 9,157 cases and 11,073 controls.PloS one · 2018Pooled it
- Telomere structure and maintenance gene variants and risk of five cancer types.International journal of cancer · 2016Pooled it
- Meta-analysis of telomere length in 19,713 subjects reveals high heritability, stronger maternal inheritance and a paternal age effect.European journal of human genetics : EJHG · 2013Pooled it
- Telomerase reverse transcriptase locus polymorphisms and cancer risk: a field synopsis and meta-analysis.Journal of the National Cancer Institute · 2012Pooled it
- Pooled it
- Telomere length and risk of glioma.Cancer epidemiology · 2013Trial
- Genetic Determinants of Telomere Length and Their Role in Human Disease: Molecular Mechanisms and Underrepresented Populations' Perspectives.Biomedicines · 2026Review
- Single-molecule variation in telomeric sequence and structure across humans.bioRxiv : the preprint server for biology · 2026Article
- TelOMpy enables single-molecule resolution of telomere length from optical genome mapping data.BMC biology · 2025Article
- Association of Hypertension With Telomere Length, Considering Non-Genetic and Genetic Factors, in Middle-Aged Koreans.Journal of clinical hypertension (Greenwich, Conn.) · 2025Article
- Effects of Pharmacological Treatment on Telomere Length and the Expression of Telomerase/Shelterin-Related Genes in Rat Models of Autism.Journal of molecular neuroscience : MN · 2025Article
- Telomere length and chronotype among women in the California Teachers Study (CTS).Chronobiology international · 2024Article
- Annual space weather fluctuations and telomere length dynamics in a longitudinal cohort of older men: the Normative Aging Study.Journal of exposure science & environmental epidemiology · 2024Article
- Involvement of Inheritance in Determining Telomere Length beyond Environmental and Lifestyle Factors.Aging and disease · 2023Review
- TERC haploid cell reprogramming: a novel therapeutic strategy for aplastic anemia.Molecular medicine (Cambridge, Mass.) · 2023Review
- Leukocyte telomere length, allelic variations in related genes and risk of coronary heart disease in people with long-standing type 1 diabetes.Cardiovascular diabetology · 2022Article
- Epigenetic Deregulation of Telomere-Related Genes in Newly Diagnosed Multiple Myeloma Patients.Cancers · 2021Article
12 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 4 institutions in 1 country.
Funding
Abstract
Telomeres cap chromosome ends and are critical for genomic stability. Many telomere-associated proteins are important for telomere length maintenance. Recent genome-wide association studies (GWAS) have identified single nucleotide polymorphisms (SNPs) in genes encoding telomere-associated proteins (RTEL1 and TERT-CLPTM1) as markers of cancer risk. We conducted an association study of telomere length and 743 SNPs in 43 telomere biology genes. Telomere length in peripheral blood DNA was determined by Q-PCR in 3,646 participants from the Prostate, Lung, Colorectal, and Ovarian Cancer Screening Trial and Nurses' Health Study. We investigated associations by SNP, gene, and pathway (functional group). We found no associations between telomere length and SNPs in TERT-CLPTM1L or RTEL1. Telomere length was not significantly associated with specific functional groups. Thirteen SNPs from four genes (MEN1, MRE11A, RECQL5, and TNKS) were significantly associated with telomere length. The strongest findings were in MEN1 (gene-based P=0.006), menin, which associates with the telomerase promoter and may negatively regulate telomerase. This large association study did not find strong associations with telomere length. The combination of limited diversity and evolutionary conservation suggest that these genes may be under selective pressure. More work is needed to explore the role of genetic variants in telomere length regulation.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.