ArticleNature genetics2024
Genetic architecture of telomere length in 462,666 UK Biobank whole-genome sequences.
Article in Nature genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers, 2 of them syntheses that pooled it.
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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.
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Who cites it
37 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Genome-wide meta-analysis across East Asian and European populations provides insights into the molecular basis of lung cancer.Genome medicine · 2026Pooled it
- Assessing the contribution of rare protein-coding germline variants to prostate cancer risk and severity in 37,184 cases.Nature communications · 2025Pooled it
- How telomere attrition protects against cancer.Nature reviews. Genetics · 2026Review
- Article
- The ageing holobiont: crosstalk between telomere dynamics, oxidative stress and the gut microbiome.Biological reviews of the Cambridge Philosophical Society · 2026Review
- Genetically proxied glucagon-like peptide-1 and glucose-dependent insulinotropic polypeptide receptor pathway modulation is associated with favorable aging phenotypes: a drug-target Mendelian randomization study.Cardiovascular diabetology · 2026Article
- Article
- Quantifying telomere length: from bulk assays to single-molecule resolution.Biophysics reports · 2026Article
- Analysis of whole genome sequencing and plasma metabolomics unveil genetic determinants and clinical implications for human health.Nature communications · 2026Article
- Telomere length and clonal hematopoiesis interact to influence outcomes in hematopoietic stem cell transplantation.Blood advances · 2026Article
- Genetic Determinants of Telomere Length and Their Role in Human Disease: Molecular Mechanisms and Underrepresented Populations' Perspectives.Biomedicines · 2026Review
- Genetic associations with longevity in a Calabrian cohort: an exploratory genome-wide study.GeroScience · 2026Article
- Clonal haematopoiesis and cardiovascular disease, defining risk, filling gaps, and framing the future.NPJ cardiovascular health · 2026Review
- Single-molecule variation in telomeric sequence and structure across humans.bioRxiv : the preprint server for biology · 2026Article
- GWAS reveals common SLX4 variants associated with telomere length and hypertension in individuals of African ancestry.Genes & genomics · 2026Article
- Genomic, phenomic and geographic associations of leukocyte telomere length in the United States.Nature genetics · 2026Article
- Heterogeneity of leukocyte telomere length and its associations with phenotypes and genotypes.Nature genetics · 2026Article
- Article
- Determinants of chromosome-specific telomere lengths among 2573 All of Us participants.Nature communications · 2026Article
- Interactive effects of telomere length and genetic variants on Alzheimer disease risk across multiple ancestral populations.Alzheimer's research & therapy · 2026Article
Corrections and comments
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Authors and funding
25 authors.
Funding
Abstract
Telomeres protect chromosome ends from damage and their length is linked with human disease and aging. We developed a joint telomere length metric, combining quantitative PCR and whole-genome sequencing measurements from 462,666 UK Biobank participants. This metric increased SNP heritability, suggesting that it better captures genetic regulation of telomere length. Exome-wide rare-variant and gene-level collapsing association studies identified 64 variants and 30 genes significantly associated with telomere length, including allelic series in ACD and RTEL1. Notably, 16% of these genes are known drivers of clonal hematopoiesis-an age-related somatic mosaicism associated with myeloid cancers and several nonmalignant diseases. Somatic variant analyses revealed gene-specific associations with telomere length, including lengthened telomeres in individuals with large SRSF2-mutant clones, compared with shortened telomeres in individuals with clonal expansions driven by other genes. Collectively, our findings demonstrate the impact of rare variants on telomere length, with larger effects observed among genes also associated with clonal hematopoiesis.
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