ArticleAmerican journal of human genetics2020
Genome-wide Association Analysis in Humans Links Nucleotide Metabolism to Leukocyte Telomere Length.
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Article in American journal of human genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 110 papers, 6 of them syntheses that pooled it.
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110citing papers in PubMed, 6 pooled it
14.6field-weighted citation impact, top 1% of its field
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Who cites it
110 citing papers in PubMed, 6 syntheses or guidelines pooled it, 173 citations in OpenAlex.
- Validation of human telomere length multi-ancestry meta-analysis association signals identifies POP5 and KBTBD6 as human telomere length regulation genes.Nature communications · 2024Pooled it
- Pooled it
- Telomere Length and Hearing Loss: A Two-Sample Mendelian Randomization.International journal of environmental research and public health · 2022Pooled it
- Systematic review of Mendelian randomization studies on risk of cancer.BMC medicine · 2022Pooled it
- Association Between Telomere Length and Skin Cancer and Aging: A Mendelian Randomization Analysis.Frontiers in genetics · 2022Pooled it
- Telomere Length and Pediatric Obesity: A Review.Genes · 2021Pooled it
- Effects of Hawthorn Fruit Supplementation on Facial Skin Phenotypes and Leukocyte Telomere Length Stratified byNutrients · 2025Trial
- Genetic Determinants of Telomere Length and Their Role in Human Disease: Molecular Mechanisms and Underrepresented Populations' Perspectives.Biomedicines · 2026Review
- Polygenic risk and rare variants in endotypes of idiopathic pulmonary fibrosis: a genetic analysis of population-based and case-control cohorts.The Lancet. Respiratory medicine · 2026Article
- Genomic, phenomic and geographic associations of leukocyte telomere length in the United States.Nature genetics · 2026Article
- Determinants of chromosome-specific telomere lengths among 2573 All of Us participants.Nature communications · 2026Article
- Relationship between genetically determined telomere length and childhood glioma risk.Acta neuropathologica communications · 2026Article
- Aging and coronary artery calcification: a Mendelian randomization study.Archives of medical science : AMS · 2026Article
- Telomere Length in Metabolic Syndrome: Mechanisms, Epidemiology and Clinical Implications: A Narrative Review.Diabetes, metabolic syndrome and obesity : targets and therapy · 2026Review
- EAT-Lancet and plant-based diets, plasma metabolomic signatures, and biological aging.npj aging · 2025Article
- Optimized derivation and culture system of human naïve pluripotent stem cells with enhanced DNA methylation status and genomic stability.Protein & cell · 2025Article
- Association of leukocyte telomere length with anti-HBsAg antibody titer in Hepatitis-B recovered patients from the Pakistani population.BMC infectious diseases · 2025Article
- Contribution of leukocyte telomere length to cardiovascular disease onset from genome-wide cross-trait analysis.Nature communications · 2025Article
- Targeting Telomere Shortening in Vascular Aging and Atherosclerosis: Therapeutic Promise ofJournal of cardiovascular development and disease · 2025Review
- Telomere Length, Brain Imaging-Derived Phenotypes, and Alzheimer's Disease: Mendelian Randomization Analysis.Molecular neurobiology · 2025Article
50 more citing papers are in PubMed but not listed here.
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Authors and funding
96 authors at 20 institutions in 15 countries.
Chen LiMRC Epidemiology Unit, University of Cambridge, CB2 0SL, United Kingdom; NIHR Leicester Biomedical Research Centre, Glenfield Hospital, Leicester, LE3 9QP, United Kingdom.
Svetlana StomaDepartment of Cardiovascular Sciences, University of Leicester, LE3 9QP, United Kingdom; NIHR Leicester Biomedical Research Centre, Glenfield Hospital, Leicester, LE3 9QP, United Kingdom.
Luca A LottaMRC Epidemiology Unit, University of Cambridge, CB2 0SL, United Kingdom.
Sophie WarnerDepartment of Cardiovascular Sciences, University of Leicester, LE3 9QP, United Kingdom.
Eva AlbrechtInstitute of Epidemiology, Helmholtz Zentrum München-German Research Centre for Environmental Health, D-85764 Neuherberg, Germany.
Alessandra AllioneDepartment of Medical Science, Genomic Variation and Translational Research Unit, University of Turin, 10126 Turin, Italy; Italian Institute for Genomic Medicine (IIGM), 10126 Turin, Italy.
Pascal P ArpDepartment of Internal Medicine, Erasmus Medical Centre, Postbus 2040, 3000 CA, Rotterdam, the Netherlands.
Linda BroerDepartment of Internal Medicine, Erasmus Medical Centre, Postbus 2040, 3000 CA, Rotterdam, the Netherlands.
Jessica L BuxtonSchool of Life Sciences, Pharmacy, and Chemistry, Kingston University, Kingston upon Thames, KT1 2EE, United Kingdom; Genetics and Genomic Medicine Programme, UCL Great Ormond Street Institute of Child Health, London, WC1N 1EH, United Kingdom.
Alexessander Da Silva Couto AlvesSchool of Public Health, Imperial College London, St Mary's Hospital, London W2 1PG, United Kingdom; School of Biosciences and Medicine, University of Surrey, Guildford, GU2 7XH, United Kingdom.
Joris DeelenMax Planck Institute for Biology of Ageing, D-50931, Cologne, Germany; Department of Biomedical Data Sciences, Section of Molecular Epidemiology, Leiden University Medical Centre, PO Box 9600, 2300 RC, Leiden, the Netherlands.
Iryna O FedkoDepartment of Biological Psychology, Vrije Universteit, 1081 BT Amsterdam, the Netherlands.
Scott D GordonGenetic Epidemiology, QIMR Berghofer Medical Research Institute, Queensland, 4006 Australia.
Tao JiangBHF Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, CB1 8RN, United Kingdom.
Robert KarlssonDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm 17177, Sweden.
Nicola KerrisonMRC Epidemiology Unit, University of Cambridge, CB2 0SL, United Kingdom.
Taylor K LoeDepartment of Molecular Medicine, The Scripps Research Institute, La Jolla, CA 92037, USA.
Massimo ManginoDepartment of Twin Research and Genetic Epidemiology, Kings College London, London SE1 7EH, United Kingdom; NIHR Biomedical Research Centre at Guy's and St Thomas' Foundation Trust, London SE1 9RT, United Kingdom.
Yuri MilaneschiDepartment of Psychiatry, Amsterdam Public Health and Amsterdam Neuroscience, Amsterdam UMC/Vrije Universiteit, 1081HJ, Amsterdam, the Netherlands.
Benjamin MiraglioInstitute for Molecular Medicine Finland (FIMM), PO Box 20, 00014 University of Helsinki, Finland.
Natalia PervjakovaEstonian Genome Centre, Institute of Genomics, University of Tartu, 51010, Tartu, Estonia.
Alessia RussoDepartment of Medical Science, Genomic Variation and Translational Research Unit, University of Turin, 10126 Turin, Italy; Italian Institute for Genomic Medicine (IIGM), 10126 Turin, Italy.
Ida SurakkaInstitute for Molecular Medicine Finland (FIMM), PO Box 20, 00014 University of Helsinki, Finland; Division of Cardiovascular Medicine, Department of Internal Medicine, University of Michigan, Ann Arbor, MI 48109, USA.
Ashley van der SpekDepartment of Epidemiology, Erasmus Medical Centre, Postbus 2040, 3000 CA, Rotterdam, the Netherlands.
Josine E VerhoevenDepartment of Psychiatry, Amsterdam Public Health and Amsterdam Neuroscience, Amsterdam UMC/Vrije Universiteit, 1081HJ, Amsterdam, the Netherlands.
Najaf AminDepartment of Epidemiology, Erasmus Medical Centre, Postbus 2040, 3000 CA, Rotterdam, the Netherlands.
Marian BeekmanDepartment of Biomedical Data Sciences, Section of Molecular Epidemiology, Leiden University Medical Centre, PO Box 9600, 2300 RC, Leiden, the Netherlands.
Alexandra I BlakemoreDepartment of Life Sciences, Brunel University London, Uxbridge UB8 3PH, United Kingdom; Department of Medicine, Imperial College London, London, W12 0HS, United Kingdom.
Federico CanzianGenomic Epidemiology Group, German Cancer Research Centre (DKFZ), 69120 Heidelberg, Germany.
Stephen E HambyDepartment of Cardiovascular Sciences, University of Leicester, LE3 9QP, United Kingdom; NIHR Leicester Biomedical Research Centre, Glenfield Hospital, Leicester, LE3 9QP, United Kingdom.
Jouke-Jan HottengaDepartment of Biological Psychology, Vrije Universteit, 1081 BT Amsterdam, the Netherlands.
Peter D JonesDepartment of Cardiovascular Sciences, University of Leicester, LE3 9QP, United Kingdom.
Pekka JousilahtiDepartment of Public Health Solutions, Finnish Institute for Health and Welfare, PO Box 30, FI-00271 Helsinki, Finland.
Reedik MägiEstonian Genome Centre, Institute of Genomics, University of Tartu, 51010, Tartu, Estonia.
Sarah E MedlandGenetic Epidemiology, QIMR Berghofer Medical Research Institute, Queensland, 4006 Australia.
Grant W MontgomeryInstitute for Molecular Bioscience, The University of Queensland, 4072, Queensland, Australia.
Dale R NyholtGenetic Epidemiology, QIMR Berghofer Medical Research Institute, Queensland, 4006 Australia; School of Biomedical Sciences and Institute of Health and Biomedical Innovation, Queensland University of Technology, Queensland, 4059, Australia.
Markus PerolaDepartment of Public Health Solutions, Finnish Institute for Health and Welfare, PO Box 30, FI-00271 Helsinki, Finland; Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, Biomedicum 1, PO Box 63, 00014 University of Helsinki, Finland.
Kirsi H PietiläinenObesity Research Unit, Research Program for Clinical and Molecular Metabolism, Haartmaninkatu 8, 00014 University of Helsinki, Helsinki, Finland; Obesity Center, Abdominal Center, Endocrinology, Helsinki University Hospital and University of Helsinki, Haartmaninkatu 4, 00029 HUS, Helsinki, Finland.
Veikko SalomaaDepartment of Public Health Solutions, Finnish Institute for Health and Welfare, PO Box 30, FI-00271 Helsinki, Finland.
Elina SillanpääInstitute for Molecular Medicine Finland (FIMM), PO Box 20, 00014 University of Helsinki, Finland; Gerontology Research Center, Faculty of Sport and Health Sciences, PO Box 35, 40014 University of Jyväskylä, Finland.
H Eka SuchimanDepartment of Biomedical Data Sciences, Section of Molecular Epidemiology, Leiden University Medical Centre, PO Box 9600, 2300 RC, Leiden, the Netherlands.
Diana van HeemstDepartment of Internal Medicine, Section of Gerontology and Geriatrics, Leiden University Medical Centre, PO Box 9600, 2300 RC, Leiden, the Netherlands.
Gonneke WillemsenDepartment of Biological Psychology, Vrije Universteit, 1081 BT Amsterdam, the Netherlands.
Antonio AgudoUnit of Nutrition, Environment, and Cancer, Cancer Epidemiology Research Program, Catalan Institute of Oncology-ICO, Group of Research on Nutrition and Cancer, Bellvitge Biomedical Research Institute-IDIBELL, L'Hospitalet of Llobregat, 08908 Barcelona, Spain.
Heiner BoeingGerman Institute of Human Nutrition Potsdam-Rehbruecke, 14558 Nuthetal, Germany.
Dorret I BoomsmaDepartment of Biological Psychology, Vrije Universteit, 1081 BT Amsterdam, the Netherlands.
Maria-Dolores ChirlaqueDepartment of Epidemiology, Murcia Regional Health Council, IMIB-Arrixaca, 30008, Murcia, Spain; CIBER of Epidemiology and Public Health (CIBERESP), 28029 Madrid, Spain.
Guy FagherazziCenter of Research in Epidemiology and Population Health, UMR 1018 Inserm, Institut Gustave Roussy, Paris-Sud Paris-Saclay University, 94805 Villejuif, France; Digital Epidemiology Research Hub, Department of Population Health, Luxembourg Institute of Health, L-1445 Strassen, Luxembourg.
Pietro FerrariInternational Agency for Research on Cancer, 69372 Lyon, France.
Paul FranksDepartment of Clinical Sciences, Clinical Research Center, Skåne University Hospital, Lund University, 20502 Malmö, Sweden; Department of Public Health and Clinical Medicine, Umeå University, 90187 Umeå, Sweden.
Christian GiegerInstitute of Epidemiology, Helmholtz Zentrum München-German Research Centre for Environmental Health, D-85764 Neuherberg, Germany; Research Unit of Molecular Epidemiology, Helmholtz Zentrum München, German Research Center for Environmental Health, D 85764 Neuherberg, Germany; German Center for Diabetes Research (DZD e.V.), D-85764 Neuherberg, Germany.
Johan Gunnar ErikssonDepartment of General Practice and Primary Health Care, University of Helsinki and Helsinki University Hospital, PO Box 20, 00014 University of Helsinki, Finland; Folkhälsan Research Centre, PO Box 20, 00014 University of Helsinki, Finland; Obstetrics and Gynaecology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 117597.
Marc GunterInternational Agency for Research on Cancer, 69372 Lyon, France.
Sara HäggDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm 17177, Sweden.
Iiris HovattaSleepWell Research Program, Haartmaninkatu 3, 00014 University of Helsinki, Finland; Department of Psychology and Logopedics, Haartmaninkatu 3, 00014 University of Helsinki, Finland.
Liher ImazMinistry of Health of the Basque Government, Public Health Division of Gipuzkoa, 20013 Donostia-San Sebastian, Spain; Biodonostia Health Research Institute, 20014 Donostia-San Sebastian, Spain.
Jaakko KaprioInstitute for Molecular Medicine Finland (FIMM), PO Box 20, 00014 University of Helsinki, Finland; Department of Public Health, PO Box 20, 00014 University of Helsinki, Finland.
Rudolf KaaksDivision of Cancer Epidemiology, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany.
Timothy KeyCancer Epidemiology Unit, Nuffield Department of Population Health, University of Oxford, OX3 7LF, United Kingdom.
Vittorio KroghEpidemiology and Prevention Unit, Fondazione IRCCS-Istituto Nazionale dei Tumori, 20133 Milan, Italy.
Nicholas G MartinGenetic Epidemiology, QIMR Berghofer Medical Research Institute, Queensland, 4006 Australia.
Olle MelanderDepartment of Clinical Sciences, Hypertension, and Cardiovascular Disease, Lund University, 21428 Malmö, Sweden.
Andres MetspaluEstonian Genome Centre, Institute of Genomics, University of Tartu, 51010, Tartu, Estonia.
Concha MorenoInstituto de Salud Pública, 31003 Pamplona, Spain.
N Charlotte Onland-MoretJulius Center for Health Sciences and Primary Care, University Medical Center Utrecht, Utrecht University, 3584 CG Utrecht, the Netherlands.
Peter NilssonDepartment of Clinical Sciences, Clinical Research Center, Skåne University Hospital, Lund University, 20502 Malmö, Sweden.
Ken K OngMRC Epidemiology Unit, University of Cambridge, CB2 0SL, United Kingdom; Department of Paediatrics, University of Cambridge, CB2 0QQ, United Kingdom.
Kim OvervadDepartment of Public Health, Aarhus University, DK-8000 Aarhus, Denmark; Department of Cardiology, Aalborg University Hospital, DK-9000 Aalborg, Denmark.
Domenico PalliCancer Risk Factors and Life-Style Epidemiology Unit, Institute for Cancer Research-ISPRO, 50139 Florence, Italy.
Salvatore PanicoDipartimento di Medicina Clinica e Chirurgia, Federico II University, 80131 Naples, Italy.
Nancy L PedersenDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm 17177, Sweden.
Brenda W J H PenninxDepartment of Psychiatry, Amsterdam Public Health and Amsterdam Neuroscience, Amsterdam UMC/Vrije Universiteit, 1081HJ, Amsterdam, the Netherlands.
J Ramón QuirósConsejería de Sanidad, Public Health Directorate, 33006 Asturias, Spain.
Marjo Riitta JarvelinSchool of Public Health, Imperial College London, St Mary's Hospital, London W2 1PG, United Kingdom; School of Epidemiology and Biostatistics, Imperial College London, SW7 2AZ, United Kingdom.
Miguel Rodríguez-BarrancoCenter of Research in Epidemiology and Population Health, UMR 1018 Inserm, Institut Gustave Roussy, Paris-Sud Paris-Saclay University, 94805 Villejuif, France; Andalusian School of Public Health (EASP), 18080 Granada, Spain; Instituto de Investigación Biosanitaria ibs.GRANADA, 18012 Granada, Spain.
Robert A ScottMRC Epidemiology Unit, University of Cambridge, CB2 0SL, United Kingdom.
Gianluca SeveriCESP, Facultés de médecine, Université Paris, 94805 Villejuif, France; Gustave Roussy, 94805 Villejuif, France; Department of Statistics, Computer Science, Applications "G. Parenti," University of Florence, 50134 Firenze, Italy.
P Eline SlagboomMax Planck Institute for Biology of Ageing, D-50931, Cologne, Germany; Department of Biomedical Data Sciences, Section of Molecular Epidemiology, Leiden University Medical Centre, PO Box 9600, 2300 RC, Leiden, the Netherlands.
Tim D SpectorDepartment of Twin Research and Genetic Epidemiology, Kings College London, London SE1 7EH, United Kingdom.
Anne TjonnelandDanish Cancer Society Research Center, 2100 Copenhagen, Denmark.
Antonia TrichopoulouHellenic Health Foundation, 11527 Athens, Greece.
Rosario TuminoCancer Registry and Histopathology Department, Provincial Health Authority (ASP), 97100 Ragusa, Italy; Hyblean Association for Research on Epidemiology, No Profit Organization, 97100 Ragusa, Italy.
André G UitterlindenDepartment of Internal Medicine, Erasmus Medical Centre, Postbus 2040, 3000 CA, Rotterdam, the Netherlands.
Yvonne T van der SchouwJulius Center for Health Sciences and Primary Care, University Medical Center Utrecht, Utrecht University, 3584 CG Utrecht, the Netherlands.
Cornelia M van DuijnDepartment of Epidemiology, Erasmus Medical Centre, Postbus 2040, 3000 CA, Rotterdam, the Netherlands; Nuffield Department of Population Health, University of Oxford, OX3 7LF, United Kingdom.
Elisabete WeiderpassInternational Agency for Research on Cancer, 69372 Lyon, France.
Eros Lazzerini DenchiDepartment of Molecular Medicine, The Scripps Research Institute, La Jolla, CA 92037, USA; Laboratory of Chromosome Instability, National Cancer Institute, NIH, Bethesda, MD 20892 USA.
Giuseppe MatulloDepartment of Medical Science, Genomic Variation and Translational Research Unit, University of Turin, 10126 Turin, Italy; Italian Institute for Genomic Medicine (IIGM), 10126 Turin, Italy.
Adam S ButterworthBHF Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, CB1 8RN, United Kingdom; Health Data Research UK Cambridge, Wellcome Genome Campus and University of Cambridge, CB10 1SA, United Kingdom; NIHR Blood and Transplant Research Unit in Donor Health and Genomics, Department of Public Health and Primary Care, University of Cambridge, CB1 8RN, United Kingdom; BHF Cambridge Centre of Excellence, School of Clinical Medicine, Addenbrookes' Hospital, Cambridge, CB2 0QQ, United Kingdom; NIHR Cambridge Biomedical Research Centre, School of Clinical Medicine, Addenbrooke's Hospital, Cambridge CB2 0QQ, United Kingdom.
John DaneshBHF Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, CB1 8RN, United Kingdom; Health Data Research UK Cambridge, Wellcome Genome Campus and University of Cambridge, CB10 1SA, United Kingdom; NIHR Blood and Transplant Research Unit in Donor Health and Genomics, Department of Public Health and Primary Care, University of Cambridge, CB1 8RN, United Kingdom; Department of Human Genetics, Wellcome Sanger Institute, Hinxton, CB10 1SA, United Kingdom; BHF Cambridge Centre of Excellence, School of Clinical Medicine, Addenbrookes' Hospital, Cambridge, CB2 0QQ, United Kingdom; NIHR Cambridge Biomedical Research Centre, School of Clinical Medicine, Addenbrooke's Hospital, Cambridge CB2 0QQ, United Kingdom.
Nilesh J SamaniDepartment of Cardiovascular Sciences, University of Leicester, LE3 9QP, United Kingdom; NIHR Leicester Biomedical Research Centre, Glenfield Hospital, Leicester, LE3 9QP, United Kingdom.
Nicholas J WarehamMRC Epidemiology Unit, University of Cambridge, CB2 0SL, United Kingdom.
Christopher P NelsonDepartment of Cardiovascular Sciences, University of Leicester, LE3 9QP, United Kingdom; NIHR Leicester Biomedical Research Centre, Glenfield Hospital, Leicester, LE3 9QP, United Kingdom.
Claudia LangenbergMRC Epidemiology Unit, University of Cambridge, CB2 0SL, United Kingdom. Electronic address: Claudia.Langenberg@mrc-epid.cam.ac.uk.
Veryan CoddDepartment of Cardiovascular Sciences, University of Leicester, LE3 9QP, United Kingdom; NIHR Leicester Biomedical Research Centre, Glenfield Hospital, Leicester, LE3 9QP, United Kingdom. Electronic address: vc15@leicester.ac.uk.
University of Cambridge · GBUniversity of Helsinki · FIUniversity of Leicester · GBErasmus University Rotterdam · NLLeiden University · NLVrije Universiteit Amsterdam · NLAmsterdam Neuroscience · NLCentre international de recherche sur le cancer · FRItalian institute for Genomic Medicine · ITKarolinska Institutet · SELund University · SEQIMR Berghofer Medical Research Institute · AUUniversity of Tartu · EEFinnish Institute for Health and Welfare · FIGerman Cancer Research Center · DEHelmholtz Zentrum München · DEInserm · FRKing's College London · GBScripps Research Institute · USUtrecht University · NL
Funding
Investigate the mechanism of action of the novel telomere length regulator TZAPZIABC011815 · NCI · DIVISION OF BASIC SCIENCES - NCI · PI LAZZERINI DENCHI, EROS · 2018 to 2025
$4.7MBritish Heart Foundation RG/13/13/30194British Heart Foundation RG/18/13/33946Cancer Research UK 19170Cancer Research UK 29017Medical Research Council MC_UU_00006/2Medical Research Council MC_UU_12015/1Medical Research Council MC_UU_12015/2Medical Research Council MR/L003120/1Medical Research Council MR/S019669/1Wellcome TrustWorld Health Organization 001
Abstract
Leukocyte telomere length (LTL) is a heritable biomarker of genomic aging. In this study, we perform a genome-wide meta-analysis of LTL by pooling densely genotyped and imputed association results across large-scale European-descent studies including up to 78,592 individuals. We identify 49 genomic regions at a false dicovery rate (FDR) < 0.05 threshold and prioritize genes at 31, with five highlighting nucleotide metabolism as an important regulator of LTL. We report six genome-wide significant loci in or near SENP7, MOB1B, CARMIL1, PRRC2A, TERF2, and RFWD3, and our results support recently identified PARP1, POT1, ATM, and MPHOSPH6 loci. Phenome-wide analyses in >350,000 UK Biobank participants suggest that genetically shorter telomere length increases the risk of hypothyroidism and decreases the risk of thyroid cancer, lymphoma, and a range of proliferative conditions. Our results replicate previously reported associations with increased risk of coronary artery disease and lower risk for multiple cancer types. Our findings substantially expand current knowledge on genes that regulate LTL and their impact on human health and disease.
Indexed as
Genome-Wide Association StudyTelomereHumansLeukocytesNucleotidesNucleotidesage-related diseasebiological agingMendelian randomisationtelomere length
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