ArticleAmerican journal of human genetics2025
Genomic and phenotypic correlates of mosaic loss of chromosome Y in blood.
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Article in American journal of human genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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14citing papers in PubMed
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Who cites it
14 citing papers in PubMed.
- Beyond sex determination: the Y chromosome in male cancers.Nature reviews. Cancer · 2026Review
- 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
- Direct probabilistic quantification of mosaic loss of chromosome Y from sequencing data.bioRxiv : the preprint server for biology · 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
- Loss of chromosome Y in hematopoietic cells: mechanisms and implications for human disease.MedScience · 2026Review
- Bayesian Estimation of Mosaic Loss of Chromosome Y from Bulk RNA Sequencing Data.bioRxiv : the preprint server for biology · 2026Article
- Review
- Loss of Y chromosome: proteomic signatures in human cardiovascular disease.European heart journal · 2025Article
- Blood biomarkers are altered in elderly hematological patients exhibiting a mosaic loss of the Y chromosome in bone marrow cells.BMC cancer · 2025Article
- Genetic drivers and clinical consequences of mosaic chromosomal alterations in 1 million individuals.medRxiv : the preprint server for health sciences · 2025Article
- Article
- Determination of loss of chromosome Y in peripheral blood cells in males with idiopathic pulmonary fibrosis.The European respiratory journal · 2024Article
Corrections and comments
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Authors and funding
71 authors.
Yasminka A JakubekDepartment of Internal Medicine, University of Kentucky, Lexington, KY, USA.
Xiaolong MaDivision of Biostatistics, Data Science Institute, Medical College of Wisconsin, Milwaukee, WI, USA.
Adrienne M StilpDepartment of Biostatistics, University of Washington, Seattle, WA, USA.
Fulong YuDivision of Hematology/Oncology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA; Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, USA; Broad Institute of MIT and Harvard, Cambridge, MA, USA; GMU-GIBH Joint School of Life Sciences, The Guangdong-Hong Kong-Macau Joint Laboratory for Cell Fate Regulation and Diseases Guangzhou National Laboratory, Guangzhou Medical University, Guangzhou, China.
Jason BaconDepartment of Computer Science, Department of Biological Sciences, University of Wisconsin Milwaukee, Milwaukee, WI, USA.
Justin W WongDepartment of Epidemiology, University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Francois AguetBroad Institute, Cambridge, MA, USA.
Kristin ArdlieBroad Institute, Cambridge, MA, USA.
Donna K ArnettUniversity of South Carolina, Columbia, SC, USA.
Kathleen BarnesDivision of Biomedical Informatics and Personalized Medicine, School of Medicine, School of Medicine University of Colorado, Anschutz Medical Campus, Aurora, CO, USA.
Joshua C BisCardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA, USA.
Tom BlackwellDepartment of Biostatistics, University of Michigan, Ann Arbor, MI, USA.
Lewis C BeckerDepartment of Medicine, Division of Cardiology, Johns Hopkins Hospital, Johns Hopkins University of Medicine, Baltimore, MD, USA.
Eric BoerwinkleHuman Genetics Center, Department of Epidemiology, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX, USA.
Russell P BowlerDepartment of Medicine, National Jewish Health, Denver, CO, USA.
Matthew J BudoffDepartment of Medicine, Division of Cardiology, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA.
April P CarsonDepartment of Medicine, University of Mississippi Medical Center, Jackson, MS, USA.
Jiawen ChenDepartment of Biostatistics, University of North Carolina-Chapel Hill, Chapel Hill, NC, USA.
Michael H ChoChanning Division of Network Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.
Josef CoreshNYU Grossman School of Medicine, NYU Langone Health, New York, NY, USA.
Nancy J CoxDivision of Genetic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Paul S de VriesHuman Genetics Center, Department of Epidemiology, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX, USA.
Dawn L DeMeoChanning Division of Network Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.
David W FardoDepartment of Biostatistics, University of Kentucky, Lexington, KY, USA.
Myriam FornageUniversity of Texas Health Science Center at Houston, Houston, TX, USA.
Xiuqing GuoDepartment of Pediatrics, The Institute for Translational Genomics and Population Sciences, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA.
Michael E HallDepartment of Medicine, University of Mississippi Medical Center, Jackson, MS, USA.
Nancy Heard-CostaDepartment of Neurology, Boston University Chobanian and Avedisian School of Medicine, Boston, MA, USA.
Bertha HidalgoDepartment of Epidemiology, School of Public Health, University of Alabama at Birmingham, Birmingham, AL, USA.
Marguerite Ryan IrvinDepartment of Epidemiology, School of Public Health, University of Alabama at Birmingham, Birmingham, AL, USA.
Andrew D JohnsonFramingham Heart Study, Framingham, MA, USA; Population Sciences Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA.
Eric JorgensonRegeneron Genetics Center, Tarrytown, NY, USA.
Eimear E KennyInstitute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Michael D KesslerRegeneron Genetics Center, Tarrytown, NY, USA.
Daniel LevyFramingham Heart Study, Framingham, MA, USA; Population Sciences Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA.
Yun LiDepartment of Biostatistics, Department of Genetics, Department of Computer Science, University of North Carolina-Chapel Hill, Chapel Hill, NC, USA.
Joao A C LimaDepartment of Medicine, Division of Cardiology, Johns Hopkins Hospital, Johns Hopkins University of Medicine, Baltimore, MD, USA.
Yongmei LiuDuke University School of Medicine, Durham, NC, USA.
Adam E LockeRegeneron Genetics Center, Tarrytown, NY, USA.
Ruth J F LoosThe Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA; Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Mitchell J MachielaDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.
Rasika A MathiasDivision of Allergy and Clinical Immunology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Braxton D MitchellDepartment of Medicine, University of Maryland Baltimore, Baltimore, MD, USA.
Joanne M MurabitoDepartment of Medicine, Boston University Chobanian and Avedisian School of Medicine, Boston, MA, USA.
Josyf C MychaleckyjCenter for Public Health Genomics, Department of Public Health Sciences, University of Virginia School of Medicine, Charlottesville, VA, USA.
Kari E NorthDepartment of Epidemiology, University of North Carolina-Chapel Hill, Chapel Hill, NC, USA.
Peter OrchardDepartment of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA.
Stephen C J ParkerDepartment of Biostatistics, University of Michigan, Ann Arbor, MI, USA; Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA; Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA.
Yash PershadDivision of Genetic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Patricia A PeyserDepartment of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, MI, USA.
Katherine A PratteDepartment of Biostatistics, National Jewish Health, Denver, CO, USA.
Bruce M PsatyCardiovascular Health Research Unit, Department of Medicine, Department of Epidemiology, Department of Health Systems and Population Health, University of Washington, Seattle, WA, USA.
Laura M RaffieldDepartment of Genetics, University of North Carolina-Chapel Hill, Chapel Hill, NC, USA.
Susan RedlineDivision of Sleep Medicine, Harvard Medical School, Boston, MA, USA.
Regeneron Genetics Center
Stephen S RichCenter for Public Health Genomics, Department of Public Health Sciences, University of Virginia School of Medicine, Charlottesville, VA, USA.
Jerome I RotterDepartment of Pediatrics, The Institute for Translational Genomics and Population Sciences, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA.
Sanjiv J ShahDepartment of Medicine, Division of Cardiology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
Jennifer A SmithDepartment of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, MI, USA; Institute for Social Research, Survey Research Center, University of Michigan, Ann Arbor, MI, USA.
Aaron P SmithInstitute for Biomedical Informatics, University of Kentucky, Lexington, KY, USA.
Albert SmithDepartment of Biostatistics, University of Michigan, Ann Arbor, MI, USA.
Margaret A TaubDepartment of Biostatistics, Johns Hopkins University, Baltimore, MD, USA.
Hemant K TiwariDepartment of Biostatistics, School of Public Health, University of Alabama at Birmingham, Birmingham, AL, USA.
Russell TracyDepartments of Pathology & Laboratory Medicine and Biochemistry, Larner College of Medicine at the University of Vermont, Colchester, VT, USA.
Bjoernar TuftinDepartment of Genetics, University of North Carolina-Chapel Hill, Chapel Hill, NC, USA.
NHLBI Trans-Omics for Precision Medicine Consortium
Alexander G BickDivision of Genetic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Vijay G SankaranDivision of Hematology/Oncology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA; Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, USA; Broad Institute of MIT and Harvard, Cambridge, MA, USA; Howard Hughes Medical Institute, Boston, MA, USA.
Alexander P ReinerDepartment of Epidemiology, University of Washington, Seattle, WA, USA.
Paul ScheetDepartment of Epidemiology, University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Paul L AuerDivision of Biostatistics, Data Science Institute, Medical College of Wisconsin, Milwaukee, WI, USA; Cancer Center, Medical College of Wisconsin, Milwaukee, WI, USA. Electronic address: pauer@mcw.edu.
Funding
Establishing the dynamics of lymphoid clonal hematopoiesis and its aging-related disease consequencesR01AG083736 · NIA · VANDERBILT UNIVERSITY MEDICAL CENTER · PI Paul L. Auer, Alexander Bick · 2023 to 2026
$2.8MInfrastructure for mentored access to CHS data and specimensR01HL172803 · NHLBI · UNIVERSITY OF WASHINGTON · PI James S Floyd, Michelle Christina Odden · 2025 to 2026
$2.7MGenetic Architecture of Aging-Related TDP-43 and Mixed Pathology DementiaRF1AG082339 · NIA · UNIVERSITY OF KENTUCKY · PI FARDO, DAVID WILLIAM, NELSON, PETER T. · 2023 to 2023
$1.7MAdmixture mapping of mosaic copy number alterations for identification of cancer driversK22CA258678 · NCI · UNIVERSITY OF KENTUCKY · PI JAKUBEK SWARTZLANDER, YASMINKA ALEKSANDRA · 2022 to 2024
$541kNCI NIH HHS K22 CA258678NHLBI NIH HHS R01 HL172803NIA NIH HHS R01 AG083736NIA NIH HHS RF1 AG082339
Abstract
Mosaic loss of Y (mLOY) is the most common somatic chromosomal alteration detected in human blood. The presence of mLOY is associated with altered blood cell counts and increased risk of Alzheimer disease, solid tumors, and other age-related diseases. We sought to gain a better understanding of genetic drivers and associated phenotypes of mLOY through analyses of whole-genome sequencing (WGS) of a large set of genetically diverse males from the Trans-Omics for Precision Medicine (TOPMed) program. We show that haplotype-based calling methods can be used with WGS data to successfully identify mLOY events. This approach enabled us to identify differences in mLOY frequencies across populations defined by genetic similarity, revealing a higher frequency of mLOY in the European (EUR) ancestry group compared to other ancestries. We identify multiple loci associated with mLOY susceptibility and show that subsets of human hematopoietic stem cells are enriched for the activity of mLOY susceptibility variants. Finally, we found that certain alleles on chromosome Y are more likely to be lost than others in detectable mLOY clones.
Indexed as
Chromosome DeletionChromosomes, Human, YMosaicismGenome, HumanGenomicsHaplotypesHumansMalePhenotypePolymorphism, Single NucleotideWhole Genome SequencingGWASmosaic loss of chromosome Ymulti-ancestry
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