ArticleNature medicine2021
Hematopoietic mosaic chromosomal alterations increase the risk for diverse types of infection.
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Article in Nature medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 124 papers, 5 of them syntheses that pooled it.
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124citing papers in PubMed, 5 pooled it
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Who cites it
124 citing papers in PubMed, 5 syntheses or guidelines pooled it, 187 citations in OpenAlex.
- Pooled it
- Contribution of germline and somatic mutations to risk of neuromyelitis optica spectrum disorder.Cell genomics · 2025Pooled it
- Mosaic Chromosomal Alterations and Human Longevity.The journals of gerontology. Series A, Biological sciences and medical sciences · 2023Pooled it
- Therapeutic potential of IL6R blockade for the treatment of sepsis and sepsis-related death: A Mendelian randomisation study.PLoS medicine · 2023Pooled it
- Fully exploiting SNP arrays: a systematic review on the tools to extract underlying genomic structure.Briefings in bioinformatics · 2022Pooled it
- Mosaic chromosomal alterations and relation to haematological cancer in two large Danish cohorts.British journal of haematology · 2026Article
- Loss of Chromosome Y and Risk of Abdominal Aortic Aneurysm.JAMA cardiology · 2026Article
- Clinical management of clonal hematopoiesis.Cancer · 2026Review
- Loss of Function Dnmt3a Mutation Leads to Aberrant Neutrophil Migration.Experimental hematology · 2026Article
- Association of serum uric acid, gout with incident sepsis: a large population-based prospective cohort study from UK Biobank.Journal of intensive care · 2026Article
- Genetic influences on haematopoiesis.Nature reviews. Genetics · 2026Review
- Article
- Longitudinal characterization of mosaic chromosomal alterations identifies factors influencing clonal dynamics of leukocytes.Nature communications · 2026Article
- Mosaic chromosomal alterations are suppressed in older adults with HIV.Communications biology · 2026Article
- Hematopoietic mosaic chromosomal alterations are pleiotropic drivers of inflammaging, multimorbidity, and mortality.medRxiv : the preprint server for health sciences · 2026Article
- Mosaic loss of Y chromosome associates with lung function, emphysema, and epigenetic aging.American journal of respiratory and critical care medicine · 2026Article
- Patterns and drivers of 43,617 mosaic chromosomal alterations in blood.Nature genetics · 2026Article
- Association of infection frequency and incident clonal hematopoiesis of indeterminant potential.Experimental hematology · 2026Article
- Clonal hematopoiesis is associated with future diseases and mortality.Chinese medical journal · 2026Article
- Review
64 more citing papers are in PubMed but not listed here.
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Authors and funding
39 authors at 20 institutions in 7 countries.
Seyedeh M Zekavat *Computational Biology and Bioinformatics Program, Yale University, New Haven, CT, USA.
Shu-Hong Lin *Integrative Tumor Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.
Alexander G BickMedical and Population Genetics and Cardiovascular Disease Initiative, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Aoxing LiuInstitute for Molecular Medicine Finland, Helsinki, Finland.
Kaavya ParuchuriMedical and Population Genetics and Cardiovascular Disease Initiative, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Chen WangDepartment of Biostatistics, Mailman School of Public Health, Columbia University, New York City, NY, USA.ORCID http://orcid.org/0000-0001-9127-0054
Md Mesbah UddinMedical and Population Genetics and Cardiovascular Disease Initiative, Broad Institute of Harvard and MIT, Cambridge, MA, USA.ORCID http://orcid.org/0000-0003-1846-0411
Yixuan YeComputational Biology and Bioinformatics Program, Yale University, New Haven, CT, USA.ORCID http://orcid.org/0000-0002-2643-665X
Zhaolong YuComputational Biology and Bioinformatics Program, Yale University, New Haven, CT, USA.ORCID http://orcid.org/0000-0001-9585-2465
Xiaoxi LiuLaboratory for Statistical and Translational Genetics, RIKEN Center for Integrative Medical Sciences, RIKEN, Yokohama, Japan.
Yoichiro KamataniLaboratory for Statistical and Translational Genetics, RIKEN Center for Integrative Medical Sciences, RIKEN, Yokohama, Japan.
Romit BhattacharyaCardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA.ORCID http://orcid.org/0000-0002-0782-4753
James P PirruccelloMedical and Population Genetics and Cardiovascular Disease Initiative, Broad Institute of Harvard and MIT, Cambridge, MA, USA.ORCID http://orcid.org/0000-0001-6088-4037
Akhil PampanaMedical and Population Genetics and Cardiovascular Disease Initiative, Broad Institute of Harvard and MIT, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-4167-0540
Po-Ru LohMedical and Population Genetics and Cardiovascular Disease Initiative, Broad Institute of Harvard and MIT, Cambridge, MA, USA.ORCID http://orcid.org/0000-0001-5542-9064
Puja KohliDivision of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.
Steven A McCarrollStanley Center, Broad Institute of Harvard and MIT, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-6954-8184
Krzysztof KirylukDivision of Nephrology, Department of Medicine, Vagelos College of Physicians and Surgeons, Columbia University, New York City, NY, USA.
Benjamin NealeStanley Center, Broad Institute of Harvard and MIT, Cambridge, MA, USA.ORCID http://orcid.org/0000-0003-1513-6077
Iuliana Ionita-LazaDepartment of Biostatistics, Mailman School of Public Health, Columbia University, New York City, NY, USA.
Eric A EngelsInfections and Immunoepidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.
Derek W BrownIntegrative Tumor Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.ORCID http://orcid.org/0000-0001-8393-1713
Jordan W SmollerStanley Center, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Robert GreenMedical and Population Genetics and Cardiovascular Disease Initiative, Broad Institute of Harvard and MIT, Cambridge, MA, USA.ORCID http://orcid.org/0000-0001-8472-0424
Elizabeth W KarlsonDepartment of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
Matthew LeboDepartment of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.ORCID http://orcid.org/0000-0002-9733-5207
Patrick T EllinorMedical and Population Genetics and Cardiovascular Disease Initiative, Broad Institute of Harvard and MIT, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-2067-0533
Scott T WeissDepartment of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
Mark J DalyInstitute for Molecular Medicine Finland, Helsinki, Finland.
Biobank Japan Project
FinnGen Consortium
Chikashi TeraoLaboratory for Statistical and Translational Genetics, RIKEN Center for Integrative Medical Sciences, RIKEN, Yokohama, Japan.ORCID http://orcid.org/0000-0002-6452-4095
Hongyu ZhaoComputational Biology and Bioinformatics Program, Yale University, New Haven, CT, USA.ORCID http://orcid.org/0000-0003-1195-9607
Benjamin L EbertMedical and Population Genetics and Cardiovascular Disease Initiative, Broad Institute of Harvard and MIT, Cambridge, MA, USA.ORCID http://orcid.org/0000-0003-0197-5451
Muredach P ReillyIrving Institute for Clinical and Translational Research, Columbia University, New York City, NY, USA.
Andrea GannaMedical and Population Genetics and Cardiovascular Disease Initiative, Broad Institute of Harvard and MIT, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-8147-240X
Mitchell J MachielaIntegrative Tumor Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.ORCID http://orcid.org/0000-0001-6538-9705
Giulio GenoveseMedical and Population Genetics and Cardiovascular Disease Initiative, Broad Institute of Harvard and MIT, Cambridge, MA, USA.ORCID http://orcid.org/0000-0003-3066-5575
Pradeep NatarajanMedical and Population Genetics and Cardiovascular Disease Initiative, Broad Institute of Harvard and MIT, Cambridge, MA, USA. pnatarajan@mgh.harvard.edu.ORCID http://orcid.org/0000-0001-8402-7435
University of Helsinki · FIBroad Institute · USBiogen (United States) · USFinnish Institute for Health and Welfare · FINovartis (Switzerland) · CHAstraZeneca (United Kingdom) · GBTampere University · FIGlaxoSmithKline (United Kingdom) · GBMerck & Co., Inc., Rahway, NJ, USA (United States) · USPfizer (United States) · USUniversity of Turku · FIVarsinais-Suomen Sairaanhoitopiiri · FIAbbVie (United States) · USNorthern Ostrobothnia Hospital District · FIPirkanmaa Hospital District · FISanofi (France) · FRHospital District of Helsinki and Uusimaa · FIBristol-Myers Squibb (United States) · USJanssen (Belgium) · BERIKEN Center for Integrative Medical Sciences · JP
Funding
Clinical and Translational Science AwardUL1TR001873 · NCATS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI REILLY, MUREDACH P · 2016 to 2025
$99.0MIDENTIFICATION OF COMMON GENETIC VARIANTS FOR ATRIAL FIBRILLATION AND PR INTERVALR01HL092577 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI BENJAMIN, EMELIA J., ELLINOR, PATRICK THOMAS · 2009 to 2025
$20.6MAfrican Ancestry Genomic Psychiatry CohortR01MH104964 · NIMH · SUNY DOWNSTATE MEDICAL CENTER · PI BIGDELI, TIM BERNARD, FANOUS, AYMAN H · 2015 to 2024
$16.7MMedical Scientist Training ProgramT32GM136651 · NIGMS · YALE UNIVERSITY · PI BARBARA I KAZMIERCZAK · 2020 to 2026
$16.5MMULTIDISCIPLINARY RESEARCH TRAINING IN CARDIOLOGYT32HL007208 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI Patrick Thomas Ellinor, David E Sosnovik · 1985 to 2026
$16.1MStructurally complex genome loci in human populations and human phenotypesR01HG006855 · NHGRI · HARVARD MEDICAL SCHOOL · PI Steven Andrew McCarroll · 2012 to 2026
$8.2MClonal hematopoiesis in the Womens Health Initiative Memory StudyR01HL148565 · NHLBI · FRED HUTCHINSON CANCER RESEARCH CENTER · PI ALEXANDER P REINER, Eric A. Whitsel · 2019 to 2026
$5.9MClonal hematopoiesis in humans: determinants of development and progressionR01HL148050 · NHLBI · BAYLOR COLLEGE OF MEDICINE · PI BALLANTYNE, CHRISTIE MITCHELL, NATARAJAN, PRADEEP · 2019 to 2022
$5.9MAFGen Consortium: Atrial Fibrillation Genomics to Functional AnalysesR01HL128914 · NHLBI · BOSTON UNIVERSITY MEDICAL CAMPUS · PI BENJAMIN, EMELIA J., ELLINOR, PATRICK THOMAS · 2015 to 2018
$3.1MRevealing somatic genome alterations and their clinical sequelae: Ultrasensitive computational detection of mosaic structural variantsDP2ES030554 · NIEHS · BRIGHAM AND WOMEN'S HOSPITAL · PI LOH, PO-RU · 2018 to 2018
$2.7MClonal hematopoiesis of indeterminate potential and HIV in the REPRIEVE trialR01HL151283 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI NATARAJAN, PRADEEP · 2020 to 2023
$2.5MTargeting Clonal Hematopoiesis of Indeterminate Potential Using Human GeneticsDP5OD029586 · OD · VANDERBILT UNIVERSITY MEDICAL CENTER · PI BICK, ALEXANDER · 2020 to 2024
$2.3MHoward Hughes Medical InstituteNCATS NIH HHS UL1 TR001873NHGRI NIH HHS R01 HG006855NHLBI NIH HHS F30 HL149180NHLBI NIH HHS K24 HL105780NHLBI NIH HHS R01 HL092577NHLBI NIH HHS R01 HL128914NHLBI NIH HHS R01 HL148050NHLBI NIH HHS R01 HL148565NHLBI NIH HHS R01 HL151283NHLBI NIH HHS T32 HL007208NIEHS NIH HHS DP2 ES030554NIGMS NIH HHS T32 GM136651NIH HHS DP5 OD029586NIMH NIH HHS R01 MH104964
Abstract
Age is the dominant risk factor for infectious diseases, but the mechanisms linking age to infectious disease risk are incompletely understood. Age-related mosaic chromosomal alterations (mCAs) detected from genotyping of blood-derived DNA, are structural somatic variants indicative of clonal hematopoiesis, and are associated with aberrant leukocyte cell counts, hematological malignancy, and mortality. Here, we show that mCAs predispose to diverse types of infections. We analyzed mCAs from 768,762 individuals without hematological cancer at the time of DNA acquisition across five biobanks. Expanded autosomal mCAs were associated with diverse incident infections (hazard ratio (HR) 1.25; 95% confidence interval (CI) = 1.15-1.36; P = 1.8 × 10
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AdolescentAdultAgedAged, 80 and overAgingBiological Specimen BanksChromosome AberrationsCommunicable DiseasesDigestive System DiseasesFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHematologic NeoplasmsHumansMale
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