Media advisory
Wednesday, June 12, 2024
A genomic analysis led by the NIH suggests that the DNA a woman is born with may affect how her cells respond to chromosomal abnormalities acquired with aging.
What
Researchers have identified inherited genetic variants that can predict the loss of one copy of a woman’s two X chromosomes as she ages, a phenomenon known as mosaic loss of the X chromosome, or mLOX. These genetic variants may play a role in promoting abnormal blood cells (having only a single copy of the X chromosome) to multiply, which can lead to several health conditions, including cancer. The study, co-led by researchers at the National Cancer Institute of the National Institutes of Health (NIH), was published on June 12, 2024, in Nature.
To better understand the causes and effects of mLOX, researchers analyzed white blood cells circulating in about 900,000 women across eight biobanks, of whom 12% had the condition. The researchers identified 56 common genetic variants – located near genes associated with autoimmune diseases and cancer susceptibility – that influenced the development of mLOX. In addition, rare variants in a gene known as FBXO10 were associated with a doubling of the risk of mLOX.
In women with mLOX, the investigators also identified a set of inherited genetic variants on the X chromosome that were observed more often on the retained X chromosome than on the one that was lost. These variants may one day be used to predict which copy of the X chromosome will be preserved when mLOX occurs. This is important because the copy of the X chromosome with these variants may have an increased advantage that may increase a woman’s risk of blood cancer.
The researchers also looked at the associations of mLOX with more than 1,200 diseases and confirmed previous findings of an association with increased risk of leukemia and susceptibility to infections that cause pneumonia.
The scientists suggest that future research should focus on how mLOX interacts with other types of genetic variation and age-related changes to potentially alter disease risk.
WHO
Mitchell Machiela, Sc.D., MPH, Division of Cancer Epidemiology and Genetics, National Cancer Institute
STUDIES
“Population analyzes of mosaic X-chromosome loss identify genetic drivers and widespread signatures of cellular selection” appears on June 12, 2024, in Nature.
About the National Cancer Institute (NCI): NCI leads the National Cancer Program and NIH’s efforts to dramatically reduce the prevalence of cancer and improve the lives of people with cancer. NCI supports a wide range of cancer research and training extramurally through grants and contracts. NCI’s intramural research program conducts innovative, transdisciplinary basic, translational, clinical, and epidemiologic research on cancer causes, pathways to prevention, risk prediction, early detection, and treatment, including research at the NIH Clinical Center—the largest research hospital in the world. Learn more about the intramural research done in NCI’s Division of Cancer Epidemiology and Genetics. For more information about cancer, please visit the NCI website at cancer.gov or call the NCI Contact Center at 1-800-4-CANCER (1-800-422-6237).
About the National Institutes of Health (NIH):NIH, the national medical research agency, includes 27 institutes and centers and is a component of the US Department of Health and Human Services. NIH is the lead federal agency that conducts and supports basic, clinical, and translational medical research, and is investigating the causes, treatments, and cures for common and rare diseases. For more information about NIH and its programs, visit www.nih.gov.
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