Individuals With Extra X or Y Chromosome at Higher Risk of Life-Threatening Blood Clots

X Y Chromosomes

Supernumerary sex chromosome aneuploidy refers to a condition in which individuals have an extra sex chromosome, resulting in an abnormal number of chromosomes in their cells. This condition can occur when there is an error in the division of chromosomes during cell division, leading to an unequal distribution of chromosomes in the resulting cells.

A Geisinger study has uncovered that individuals with supernumerary sex chromosome aneuploidy, a condition characterized by an extra X or Y chromosome, are at a heightened risk of developing venous thromboembolism (VTE), a type of blood clot.

The findings were published in the Journal of the American Medical Association (JAMA).

VTE, an often fatal condition, affects approximately 900,000 people in the United States annually. This condition is a common complication for those in intensive care, as well as for individuals with medical issues like cancer and COVID-19. VTE includes deep vein thrombosis (a blood clot in a deep vein, typically in the leg) and pulmonary embolism (a blood clot in the lung).

The Geisinger research team, led by Matthew Oetjens, Ph.D., assistant professor at Geisinger’s Autism & Developmental Medicine Institute, analyzed genetic and electronic health record data on two groups of patients—642,544 in all—enrolled in Geisinger’s MyCode Community Health Initiative and the UK Biobank, another large population study based in the United Kingdom. They found that approximately one in 500 Geisinger patients have an additional X or Y chromosome in their genome beyond the typical two found in females (XX) and males (XY). Those with an additional X or Y chromosome had a risk for VTE that was four to five times higher than expected.

“An additional X or Y chromosome is more common than many people think, but it does not often receive clinical attention,” Dr. Oetjens said. “Our study shows that there are underappreciated health risks associated with these disorders that could change medical care if known in advance.”

“VTE is a life-threatening, but preventable disease,” said Alex Berry, Ph.D., a staff scientist at Geisinger and the first author of the study. “It is important to identify individuals at high risk for VTE to minimize unnecessary illness and death.”

The analysis also suggests that the loss of an X or Y chromosome, known as Turner syndrome, is not associated with a higher risk of blood clots. Further research is needed to understand the medical implications of this association, the research team wrote.

Reference: “Association of Supernumerary Sex Chromosome Aneuploidies With Venous Thromboembolism” by Alexander S. F. Berry, Ph.D., Brenda M. Finucane, MS, Scott M. Myers, MD, Angela Abril, MD, H. Lester Kirchner, Ph.D., David H. Ledbetter, Ph.D., Christa Lese Martin, Ph.D. and Matthew T. Oetjens, Ph.D., 17 January 2023, JAMA.
DOI: 10.1001/jama.2022.23897

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