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A review in Science brings together human, animal and genomic research on how X and Y chromosome genes may affect immunity, cancer, aging and other diseases. It argues that chromosome biology can contribute to health differences beyond the effects of sex hormones, while many links—especially those involving chromosome loss—remain under study.
A review published in Science examines evidence that X and Y chromosome genes, in addition to sex hormones, help shape immune function, cancer, aging and other health outcomes. The review, co-led by University of Arizona Cancer Center physician-scientist Dan Theodorescu and University of California, San Francisco researcher Dena B. Dubal, synthesizes existing studies and outlines implications for research, diagnosis, treatment and clinical trials.
The authors evaluated evidence from human studies, mouse models and genomic technologies. They describe chromosome-related processes that may affect health over a person’s lifetime, including differences in which X-linked genes remain active and the loss of a sex chromosome in some cells as people age. The review addresses immunity, metabolism, brain aging, cancer, neurological conditions and cardiometabolic disease.
In people with two X chromosomes, one X is largely inactivated in each cell early in development. But some genes on that chromosome can remain active, and other genes may become active again with age, potentially changing the amount of certain gene products in cells. The review also discusses research suggesting that the parental origin of a cell’s active X may matter. In mouse studies, animals whose cells relied mainly on the maternal X showed faster brain aging and memory decline; that finding does not establish the same effect in humans.
The review describes associations between age-related chromosome loss and disease. Loss of an X chromosome in women has been linked to higher leukemia risk, while loss of the Y chromosome in men—often measured in blood—has been associated with cancers, heart disease, severe infections and Alzheimer’s disease. These links do not by themselves show that chromosome loss causes each condition. The authors present chromosome loss as a possible disease marker and a potential contributor that needs further investigation.
How Chromosomes May Shape Care
The review matters because it challenges an explanation of health differences that focuses mainly on estrogen, testosterone and other hormones. Chromosome-linked gene activity may also help account for variation in disease risk, progression and response to treatment. For researchers and clinicians, considering both hormones and chromosome biology could help generate more precise questions about why patients respond differently.
The treatment implications remain prospective, not established guidance. Theodorescu said his laboratory has found that some tumors that lose the Y chromosome can evade immune detection and may respond better to immunotherapy. That research points to a possible connection between tumor chromosome status and treatment response, but the review does not establish a routine test or treatment change for patients. Its broader message is that sex-aware research and clinical trials may help determine whether these biological differences can be used to improve diagnosis or care.
Because the review covers conditions ranging from cancer to heart and neurological disease, its relevance extends beyond one specialty. It also highlights the need to distinguish a statistical association from a mechanism: a chromosome change might contribute to disease, result from it, or mark other changes occurring in aging cells.
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From Hormones to Chromosome Biology
Biological differences in health between women and men have often been discussed in relation to sex hormones. The review adds to a growing body of work examining how genes on the X and Y chromosomes may act independently of, or alongside, hormone effects. The authors describe these chromosomes not simply as determinants of biological sex, but as sources of genetic instructions that can affect cellular function.
The review grew out of discussions at the 2025 National Institute on Aging workshop on sex differences affecting human health across the lifespan, including conversations with Francesca Duncan of Northwestern University Feinberg School of Medicine. It was co-authored by Fabrisia Ambrosio of Harvard Medical School’s Schoen Adams Research Institute and Michael B. Stout of the Oklahoma Medical Research Foundation, among others.
Theodorescu’s earlier research examined Y chromosome loss in men’s T cells and cancer cells, reporting that the loss could help tumors evade immune responses. His group has also reported that Y loss in normal-appearing tissue may signal an area of genetic risk for cancer. The new review places such findings alongside research on other organs and diseases rather than treating them as proof that one mechanism explains all sex-related health differences.
“In cancer, for example, our laboratory has found that tumors that lose the Y chromosome can evade the immune system, yet may respond better to immunotherapy.”
— Dan Theodorescu
Which Links Are Causal?
Many findings summarized in the review are associations rather than proof of cause. It remains unclear how much chromosome loss directly contributes to conditions linked with it, whether it is mainly a marker of aging or disease in particular settings, and which other biological changes may be involved. The broader health effects of X chromosome loss also remain poorly understood.
Evidence from mice, including findings about the parental origin of the active X and brain aging, cannot be assumed to apply directly to people. The review also does not show how often chromosome-based measurements would improve risk prediction or change treatment decisions. Further research will be needed to test whether findings hold across populations and diseases and to distinguish the effects of chromosome genes from those of hormones and other factors.
Testing Findings in Patients
The review calls for further investigation into how X and Y chromosome activity relates to disease and whether those patterns can inform diagnostics, treatment choices or trial design. The authors propose greater attention to sex-related biology in research and clinical trials, but the source material does not announce a new trial, clinical guideline or timetable for adopting chromosome testing.
Next steps will depend on studies that confirm the reported links in people, clarify when chromosome changes precede or contribute to disease, and test whether using this information improves patient outcomes. Until then, the review is a synthesis of existing evidence and a research agenda—not a change to established medical care.
Key Questions
What did the Science review report?
It synthesized research suggesting that X and Y chromosome genes may influence immunity, aging, cancer, metabolism and other health outcomes, alongside the effects of sex hormones.
Does chromosome loss cause cancer or heart disease?
The review reports associations between chromosome loss and several diseases, including cancer and heart disease. Those associations do not prove that chromosome loss causes the conditions; its role may vary by disease and requires further study.
What is known about loss of the Y chromosome?
Y chromosome loss, often measured in men’s blood as they age, has been linked in studies to cancers, heart disease, severe infections and Alzheimer’s disease. Researchers are investigating whether it contributes to disease, serves as a marker, or both.
Could this research change cancer treatment?
The review describes laboratory findings that some tumors without a Y chromosome may evade immune detection yet respond better to immunotherapy. This is a research finding, not a general treatment recommendation or an established reason to change care.
Are the findings ready for clinical use?
No clinical test, guideline or treatment change is announced in the review. Researchers still need to confirm key findings in people and determine whether chromosome-based information improves diagnosis or outcomes.
Source: rss
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