Clonal Hematopoiesis and Its Impact on Human Health
Open accessAbstract
Aging is associated with increased mutational burden in every tissue studied. Occasionally, fitness-increasing mutations will arise, leading to stem cell clonal expansion. This process occurs in several tissues but has been best studied in blood. Clonal hematopoiesis is associated with an increased risk of blood cancers, such as acute myeloid leukemia, which result if additional cooperating mutations occur. Surprisingly, it is also associated with an increased risk of nonmalignant diseases, such as atherosclerotic cardiovascular disease. This may be due to enhanced inflammation in mutated innate immune cells, which could be targeted clinically with anti-inflammatory drugs. Recent studies have uncovered other factors that predict poor outcomes in patients with clonal hematopoiesis, such as size of the mutant clone, mutated driver genes, and epigenetic aging. Though clonality is inevitable and largely a function of time, recent work has shown that inherited genetic variation can also influence this process. Clonal hematopoiesis provides a paradigm for understanding how age-related changes in tissue stem cell composition and function influence human health.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
CHIP and mosaic chromosomal alterations represent two primary categories of somatic variants that propel the progression of clonal hematopoiesis.
“Clonal hematopoiesis of indeterminate potential (CHIP, denoting somatic single-nucleotide variants (sSNVs) and somatic insertions and deletions (sIndels) in cancer driver genes) and mosaic chromosomal alterations (mCAs, denoting chromosome-level somatic copy number variants (sCNVs) enriched in CH) represent two primary categories of somatic variants that propel the progression of CH23.”
From Somatic cancer variants enriched in Alzheimer’s disease microglia-like cells drive inflammatory and proliferative states (2026) · cites this paper as [23]
Cites
DNA methylation age of human tissues and cell types
Horvath, S. (2013) · Genome Biology · doi:10.1186/gb-2013-14-10-r115 · Cited by 7,075 · see citing works
Age-related clonal hematopoiesis associated with adverse outcomes
Jaiswal, S., Fontanillas, P., Flannick, J., Manning, A., Grauman, P. V., Mar, B. G., Lindsley, R. C., Mermel, C. H., Burtt, N., Chavez, A., et al. (2014) · New England Journal of Medicine · doi:10.1056/nejmoa1408617 · Cited by 4,841 · see citing works
Self-citationSanderson, E., Glymour, M. M., Holmes, M. V., Kang, H., Morrison, J., Munafò, M. R., Palmer, T., Schooling, C. M., Wallace, C., Zhao, Q., et al. (2022) · Nature Reviews Methods Primers · doi:10.1038/s43586-021-00092-5 · Cited by 2,229 · see citing works
Clonal hematopoiesis in human aging and disease
Jaiswal, S., & Ebert, B. L. (2019) · Science · doi:10.1126/science.aan4673 · Cited by 1,156 · see citing works
Self-citationPrediction of acute myeloid leukaemia risk in healthy individuals
Abelson, S., Collord, G., Ng, S. W. K., Weissbrod, O., Mendelson Cohen, N., Niemeyer, E., Barda, N., Zuzarte, P. C., Heisler, L., Sundaravadanam, Y., et al. (2018) · Nature · doi:10.1038/s41586-018-0317-6 · Cited by 850 · see citing works
Horvath, S., Oshima, J., Martin, G. M., Lu, A. T., Quach, A., Cohen, H., Felton, S., Matsuyama, M., Lowe, D., Kabacik, S., et al. (2018) · Aging · doi:10.18632/aging.101508 · Cited by 815 · see citing works
Inherited causes of clonal haematopoiesis in 97,691 whole genomes
Bick, A. G., Weinstock, J. S., Nandakumar, S. K., Fulco, C. P., Bao, E. L., Zekavat, S. M., Szeto, M. D., Liao, X., Leventhal, M. J., Nasser, J., et al. (2020) · Nature · doi:10.1038/s41586-020-2819-2 · Cited by 733 · see citing works
Self-citationSomatic mutations precede acute myeloid leukemia years before diagnosis
Desai, P., Mencia-Trinchant, N., Savenkov, O., Simon, M. S., Cheang, G., Lee, S., Samuel, M., Ritchie, E. K., Guzman, M. L., Ballman, K. V., et al. (2018) · Nature Medicine · doi:10.1038/s41591-018-0081-z · Cited by 619 · see citing works
Nonrandom X-inactivation patterns in normal females: lyonization ratios vary with age
Busque, L., Mio, R., Mattioli, J., Brais, E., Blais, N., Lalonde, Y., Maragh, M., & Gilliland, D. (1996) · Blood · doi:10.1182/blood.v88.1.59.59 · Cited by 543 · see citing works
Leukemia-associated somatic mutations drive distinct patterns of age-related clonal hemopoiesis
McKerrell, T., Park, N., Moreno, T., Grove, C. S., Ponstingl, H., Stephens, J., Crawley, C., Craig, J., Scott, M. A., Hodkinson, C., et al. (2015) · Cell Reports · doi:10.1016/j.celrep.2015.02.005 · Cited by 534 · see citing works
Buscarlet, M., Provost, S., Zada, Y. F., Barhdadi, A., Bourgoin, V., Lépine, G., Mollica, L., Szuber, N., Dubé, M.-P., & Busque, L. (2017) · Blood · doi:10.1182/blood-2017-04-777029 · Cited by 383 · see citing works
Life histories of myeloproliferative neoplasms inferred from phylogenies
Williams, N., Lee, J., Mitchell, E., Moore, L., Baxter, E. J., Hewinson, J., Dawson, K. J., Menzies, A., Godfrey, A. L., Green, A. R., et al. (2022) · Nature · doi:10.1038/s41586-021-04312-6 · Cited by 285 · see citing works
Kahn, J. D., Miller, P. G., Silver, A. J., Sellar, R. S., Bhatt, S., Gibson, C., McConkey, M., Adams, D., Mar, B., Mertins, P., et al. (2018) · Blood · doi:10.1182/blood-2018-05-850339 · Cited by 225 · see citing works
Champion, K. M., Gilbert, J. G. R., Asimakopoulos, F. A., Hinshelwood, S., & Green, A. R. (1997) · British Journal of Haematology · doi:10.1046/j.1365-2141.1997.1933010.x · Cited by 171 · see citing works
Flagged first, then by citations
Cited by
Sorted by citations
From geroscience to precision geromedicine: Understanding and managing aging
Kroemer, G., Maier, A. B., Cuervo, A. M., Gladyshev, V. N., Ferrucci, L., Gorbunova, V., Kennedy, B. K., Rando, T. A., Seluanov, A., Sierra, F., et al. (2025) · Cell · doi:10.1016/j.cell.2025.03.011 · Cited by 395 · see citing works
Huang, A. Y., Zhou, Z., Talukdar, M., Enyenihi, L., Miller, M. B., Chhouk, B., Rosen, I., Zheng, M., Zhou, M., Yang, A., et al. (2026) · Cell · doi:10.1016/j.cell.2026.03.040 · Cited by 15 · see citing works
- Authors
- Ahmad, H., Jahn, N., & Jaiswal, S.
- Affiliations
- Stanford Medicine (US)
- Venue
- Annual Review of Medicine
- Publisher
- Annual Reviews
- Published
- 2023-01-27
- Volume
- 74
- Issue
- 1
- Pages
- 249-260
- ISSN
- 0066-4219 (ISSN-L)
- 1545-326X
- OpenAlex
- W4310470903
- Cited by
- 66
- References
- 14
- Citations by year
- 2026: 15 · 2025: 16 · 2024: 19 · 2023: 16
- FWCI
- 2.27
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Locations
- Annual Review of Medicine (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Funders
- National Heart, Lung, and Blood Institute (DP2HL157540)
- Topics
- Health Sciences › Medicine › Hematology › Acute Myeloid Leukemia Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
- Health Sciences › Medicine › Hematology › Hematopoietic Stem Cell Transplantation
- Keywords
- clonal hematopoiesis, somatic mutations, aging, clonal expansion, hematopoietic stem cells, acute myeloid leukemia, atherosclerotic cardiovascular disease, inflammation, innate immune cells, anti-inflammatory agents, clone size, driver genes, epigenetic aging, inherited genetic variation, tissue stem cells
- MeSH terms
- Clonal Hematopoiesis, Aging, Hematopoiesis, Humans, Mutation, Precancerous Conditions, Hematologic Neoplasms
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
