January 27, 2023

Newswise-DANVILLE, Pa. – People with an extra X or Y chromosome – a genetic condition known as supernumerary sex chromosome aneuploidy – have an increased risk of developing blood clots known as venous thromboembolism (VTE), a Geisinger study found .

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

VTE, which is often fatal, affects an estimated 900,000 people in the United States each year and is a common complication for patients in intensive care units and those with conditions such as cancer and COVID-19. VTE includes deep vein thrombosis (a blood clot in a deep vein, usually in the leg) and pulmonary embolism (a blood clot in the lungs).

The Geisinger research team, led by Matthew Oetjens, Ph.D., an assistant professor at Geisinger’s Autism & Developmental Medicine Institute, analyzed genetic and electronic health data from two cohorts of patients — 642,544 in total — enrolled in Geisinger’s MyCode Community Health Initiative and were the UK Biobank, another large population study based in the UK. They found that about one in 500 Geisinger patients has an extra X or Y chromosome in their genome, apart from the typical two found in females (XX) and males (XY). People with an extra X or Y chromosome had a four to five times higher risk of VTE than expected.

“An extra X or Y chromosome is more common than many people think, but it’s not often explored clinically,” said Dr. Oetjens. “Our study shows that there are underestimated health risks associated with these diseases that, if known in advance, could transform medical care.”

“VTE is a life-threatening but preventable disease,” said Dr. Alex Berry, research associate at Geisinger and first author of the study. “It is important to identify individuals at high risk of VTE to minimize unnecessary morbidity and death.”

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

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About Geisinger
Geisinger is committed to making better health easier for the more than 1 million people it serves. Founded more than 100 years ago by Abigail Geisinger, the system now includes 10 hospital campuses, a health plan with more than half a million members, a research institute and the Geisinger Commonwealth School of Medicine. With nearly 24,000 employees and more than 1,700 salaried physicians, Geisinger boosts his Pennsylvania hometown’s economy by billions of dollars annually. Learn more at www.geisinger.org or connect with us on Facebook, Instagram, and LinkedIn Twitter.

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