Determinants of mosaic chromosomal alteration fitness.

Humans Mosaicism Chromosome Aberrations Clonal Hematopoiesis / genetics Male Female Genome-Wide Association Study Janus Kinase 2 / genetics Telomerase / genetics Loss of Heterozygosity Cross-Sectional Studies Mutation Middle Aged Hematopoietic Stem Cells / metabolism Polymorphism, Single Nucleotide Aged

Journal

Nature communications
ISSN: 2041-1723
Titre abrégé: Nat Commun
Pays: England
ID NLM: 101528555

Informations de publication

Date de publication:
07 May 2024
Historique:
received: 08 11 2023
accepted: 23 04 2024
medline: 8 5 2024
pubmed: 8 5 2024
entrez: 7 5 2024
Statut: epublish

Résumé

Clonal hematopoiesis (CH) is characterized by the acquisition of a somatic mutation in a hematopoietic stem cell that results in a clonal expansion. These driver mutations can be single nucleotide variants in cancer driver genes or larger structural rearrangements called mosaic chromosomal alterations (mCAs). The factors that influence the variations in mCA fitness and ultimately result in different clonal expansion rates are not well understood. We used the Passenger-Approximated Clonal Expansion Rate (PACER) method to estimate clonal expansion rate as PACER scores for 6,381 individuals in the NHLBI TOPMed cohort with gain, loss, and copy-neutral loss of heterozygosity mCAs. Our mCA fitness estimates, derived by aggregating per-individual PACER scores, were correlated (R

Identifiants

DOI: 10.1038/s41467-024-48190-8 PMID: 38714703
pubmed: 38714703
doi: 10.1038/s41467-024-48190-8
pii: 10.1038/s41467-024-48190-8
doi:

Substances chimiques

Janus Kinase 2 EC 2.7.10.2
Telomerase EC 2.7.7.49
JAK2 protein, human EC 2.7.10.2
TERT protein, human EC 2.7.7.49

Types de publication

Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

3800

Subventions

Organisme : U.S. Department of Health & Human Services | NIH | National Institute on Aging (U.S. National Institute on Aging)
ID : R01AG083736
Organisme : U.S. Department of Health & Human Services | NIH | National Heart, Lung, and Blood Institute (NHLBI)
ID : DP5OD029586
Organisme : U.S. Department of Health & Human Services | NIH | National Institute of General Medical Sciences (NIGMS)
ID : T32GM007347

Informations de copyright

© 2024. The Author(s).

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Auteurs

Yash Pershad (Y)

Vanderbilt Genetics Institute, Vanderbilt University, Nashville, TN, USA.
ORCID: 0000-0002-2282-1403

Taralynn Mack (T)

Vanderbilt Genetics Institute, Vanderbilt University, Nashville, TN, USA.

Hannah Poisner (H)

Vanderbilt Genetics Institute, Vanderbilt University, Nashville, TN, USA.
ORCID: 0000-0003-1652-3642

Yasminka A Jakubek (YA)

Internal Medicine, Biomedical Informatics, University of Kentucky, Lexington, KY, USA.

Adrienne M Stilp (AM)

Biostatistics, School of Public Health, University of Washington, Seattle, WA, USA.
ORCID: 0000-0002-3910-0776

Braxton D Mitchell (BD)

Dept of Medicine, Endocrinology, Diabetes, and Nutrition, University of Maryland, Baltimore, Baltimore, MD, USA.
ORCID: 0000-0003-4920-4744

Joshua P Lewis (JP)

Dept of Medicine, Endocrinology, Diabetes, and Nutrition, University of Maryland, Baltimore, Baltimore, MD, USA.
ORCID: 0000-0002-4107-6066

Eric Boerwinkle (E)

Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX, USA.

Ruth J F Loos (RJF)

The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
ORCID: 0000-0001-8312-1438

Nathalie Chami (N)

The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
ORCID: 0000-0002-8547-6424

Zhe Wang (Z)

The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
ORCID: 0000-0002-8046-4969

Kathleen Barnes (K)

Division of Biomedical Informatics & Personalized Medicine, University of Colorado Anschutz, Aurora, CO, USA.
ORCID: 0000-0002-3030-4705

Nathan Pankratz (N)

Department of Laboratory Medicine and Pathology, University of Minnesota Medical School, Minneapolis, MN, USA.
ORCID: 0000-0001-5958-693X

Myriam Fornage (M)

Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX, USA.
Brown Foundation Institute of Molecular Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, TX, USA.
ORCID: 0000-0003-0677-8158

Susan Redline (S)

Division of Sleep Medicine, Harvard Medical School, Boston, MA, USA.

Bruce M Psaty (BM)

Cardiovascular Health Research Unit, Departments of Medicine, Epidemiology, and Health Systems and Population Health, University of Washington, Seattle, WA, USA.
ORCID: 0000-0002-7278-2190

Joshua C Bis (JC)

Cardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA, USA.
ORCID: 0000-0002-3409-1110

Ali Shojaie (A)

Biostatistics, University of Washington, Seattle, WA, USA.

Edwin K Silverman (EK)

Channing Division of Network Medicine, Brigham and Women's Hospital, Boston, MA, USA.

Michael H Cho (MH)

Channing Division of Network Medicine, Brigham and Women's Hospital, Boston, MA, USA.

Jeong H Yun (JH)

Channing Division of Network Medicine, Brigham and Women's Hospital, Boston, MA, USA.
ORCID: 0000-0002-4361-8295

Dawn DeMeo (D)

Channing Division of Network Medicine, Brigham and Women's Hospital, Boston, MA, USA.

Daniel Levy (D)

National Heart, Lung and Blood Institute, Population Sciences Branch, Framingham, MA, USA.

Andrew D Johnson (AD)

National Heart, Lung and Blood Institute, Population Sciences Branch, Framingham, MA, USA.
ORCID: 0000-0001-6369-5178

Rasika A Mathias (RA)

Division of Allergy and Clinical Immunology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MA, USA.
ORCID: 0000-0002-2282-9042

Margaret A Taub (MA)

Department of Biostatistics, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MA, USA.

Donna Arnett (D)

Department of Epidemiology, University of Texas M.D. Anderson Cancer Center, Houston, TX, USA.

Kari E North (KE)

Department of Epidemiology, University of North Carolina Chapel-Hill, Chapel Hill, NC, USA.
ORCID: 0000-0002-8903-0366

Laura M Raffield (LM)

Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
ORCID: 0000-0002-7892-193X

April P Carson (AP)

Department of Medicine, University of Mississippi Medical Center, Jackson, MS, USA.
ORCID: 0000-0002-7970-6756

Margaret F Doyle (MF)

Department of Pathology & Laboratory Medicine, The University of Vermont Larner College of Medicine, Colchester, VT, USA.

Stephen S Rich (SS)

Center for Public Health Genomics, University of Virginia School of Medicine, Charlottesville, VA, USA.
ORCID: 0000-0003-3872-7793

Jerome I Rotter (JI)

Pediatrics, Genomic Outcomes, The Institute for Translational Genomics and Population Sciences, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA.
ORCID: 0000-0001-7191-1723

Xiuqing Guo (X)

Pediatrics, Genomic Outcomes, The Institute for Translational Genomics and Population Sciences, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA.
ORCID: 0000-0002-5264-5068

Nancy J Cox (NJ)

Division of Genetic Medicine, Department of Medicine, Vanderbilt University and Vanderbilt University Medical Center, Nashville, TN, USA.

Dan M Roden (DM)

Departments of Medicine, Pharmacology, and Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA.
ORCID: 0000-0002-6302-0389

Nora Franceschini (N)

Department of Epidemiology, University of North Carolina Chapel-Hill, Chapel Hill, NC, USA.
ORCID: 0009-0001-8346-3662

Pinkal Desai (P)

Weill Cornell Medical College, New York, NY, USA.

Alex P Reiner (AP)

Public Health Sciences Division, Fred Hutchinson Cancer Center, Seattle, WA, USA.
ORCID: 0000-0002-1427-4470

Paul L Auer (PL)

Division of Biostatistics, Insitute for Health & Equity and Cancer Center, Medical College of Wisconsin, Milwaukee, WI, USA.
ORCID: 0000-0003-1735-8044

Paul A Scheet (PA)

Dept of Epidemiology, University of Texas M. D. Anderson Cancer Center, Houston, TX, USA.
ORCID: 0000-0002-5173-7497

Siddhartha Jaiswal (S)

Department of Pathology, Stanford University, Stanford, CA, USA.
ORCID: 0000-0002-9597-0477

Joshua S Weinstock (JS)

Center for Statistical Genetics, Department of Biostatistics, University of Michigan School of Public Health, Ann Arbor, MI, USA.
ORCID: 0000-0001-7013-1899

Alexander G Bick (AG)

Division of Genetic Medicine, Department of Medicine, Vanderbilt University and Vanderbilt University Medical Center, Nashville, TN, USA. alexander.bick@vumc.org.
ORCID: 0000-0001-5824-9595

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Determinants of mosaic chromosomal alteration fitness.
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Aberrations des chromosomes › Mosaïcisme › Determinants of mosaic chromosomal alteration fitness.
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Aberrations des chromosomes › Determinants of mosaic chromosomal alteration fitness.
questionsmedicales.fr › Phénomènes physiologiques respiratoires et circulatoires › Phénomènes physiogiques du sang › Hématopoïèse › Hématopoïèse clonale › Determinants of mosaic chromosomal alteration fitness.
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Épidémiologie moléculaire › Étude d'association pangénomique › Determinants of mosaic chromosomal alteration fitness.
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines tumorales › Protéines oncogènes › Protéines proto-oncogènes › Kinase Janus-2 › Determinants of mosaic chromosomal alteration fitness.
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Nucléoprotéines › Protéines de liaison à l'ARN › Ribonucléoprotéines › Telomerase › Determinants of mosaic chromosomal alteration fitness.
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Déséquilibre allélique › Perte d'hétérozygotie › Determinants of mosaic chromosomal alteration fitness.
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Caractéristiques des études épidémiologiques › Études épidémiologiques › Études transversales › Determinants of mosaic chromosomal alteration fitness.
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Determinants of mosaic chromosomal alteration fitness.
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Adulte d'âge moyen › Determinants of mosaic chromosomal alteration fitness.
questionsmedicales.fr › Systèmes sanguin et immunitaire › Système hématopoïétique › Cellules de la moelle osseuse › Cellules souches hématopoïétiques › Determinants of mosaic chromosomal alteration fitness.
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Polymorphisme génétique › Polymorphisme de nucléotide simple › Determinants of mosaic chromosomal alteration fitness.
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Sujet âgé › Determinants of mosaic chromosomal alteration fitness.