Loss of chromosome Y (LOY) in blood cells is associated with increased risk for disease and mortality in aging men
Open accessAbstract
Recent discoveries have shown that harboring cells without the Y chromosome in the peripheral blood is associated with increased risk for all-cause mortality and disease such as different forms of cancer, Alzheimer's disease, as well as other conditions in aging men. In the entire world, the life expectancy of men is shorter compared to women, a sex difference that has been known for centuries, but the underlying mechanism(s) are not well understood. As a male-specific genetic risk factor, an increased risk for pathology and mortality associated with mosaic loss of chromosome Y (LOY) in blood cells could help to explain that men on average live shorter lives compared to women. This review primarily focuses on observed associations between LOY in blood and various diseases in aging men. Other topics covered are known risk factors for LOY, methods to detect LOY, and a discussion regarding mechanisms such as immunosurveillance, that could possibly explain how an acquired mutation in blood cells can be associated with disease processes in other organs.
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Mosaic chromosomal alterations, including loss of the Y chromosome, are strongly associated with cardiovascular disease, stroke, and dementia risk.
“Mosaic chromosomal alterations, including loss of the Y chromosome (LOY), are strongly associated with cardiovascular disease, stroke, and dementia risk [34,44,45].”
From Clonal Hematopoiesis of Indeterminate Potential as an Emerging Interdisciplinary Risk Factor in Alzheimer’s Disease: Current Evidence and Future Directions (2026) · cites this paper as [44]
The section ‘LOY in blood cells and risk for Alzheimer’s disease’ reports a strong association between blood-cell LOY and Alzheimer’s risk in men. The cited paper does not establish the claimed associations with cardiovascular disease or stroke, or extend the finding to mosaic chromosomal alterations generally or all forms of dementia (searched: cardiovascular, stroke, dementia). (LLM, conf=0.88)
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- Authors
- Forsberg, L. A.
- Affiliations
- Uppsala University (SE)
- Corresponding author
- Forsberg, Lars A.
- ORCID
- Forsberg, Lars A.
- Venue
- Human Genetics
- Published
- 2017-04-19
- Volume
- 136
- Issue
- 5
- Pages
- 657-663
- ISSN
- 0018-7348 (ISSN-L)
- 0340-6717
- 1432-1203
- PMC
- PMC5418310
- OpenAlex
- W2605722421
- Cited by
- 134
- References
- 31
- Citations by year
- 2026: 17 · 2025: 13 · 2024: 15 · 2023: 14 · 2022: 10 · 2021: 24 · 2020: 16 · 2019: 12 · 2018: 10 · 2017: 3
- FWCI
- 7.44
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Locations
- Human Genetics (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Funders
- European Research Council (679744)
- Kjell och Märta Beijers Stiftelse (SE)
- Stiftelsen Olle Engkvist Byggmästare
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Health Sciences › Medicine › Physiology › Telomeres, Telomerase, and Senescence
- Health Sciences › Medicine › Reproductive Medicine › Sperm and Testicular Function
- Keywords
- Y chromosome, mosaicism, older men, sex differences in longevity, all-cause mortality, cancer risk, Alzheimer's disease, immune surveillance
- MeSH terms
- Aging, Alzheimer Disease, Blood Cells, Female, Hematologic Diseases, Humans, Life Expectancy, Male, Neoplasms, Risk Factors, Chromosomes, Human, Y
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