The Geisinger research study group, led by Matthew Oetjens, Ph.D., assistant professor at Geisingers Autism & & Developmental Medicine Institute, analyzed hereditary and electronic health record information on two groups of clients– 642,544 in all– enrolled in Geisingers MyCode Community Health Initiative and the UK Biobank, another big population research study based in the United Kingdom. They found that approximately one in 500 Geisinger patients have an extra X or Y chromosome in their genome beyond the normal two discovered in women (XX) and males (XY). Those with an extra X or Y chromosome had a threat for VTE that was 4 to five times higher than expected.
” An additional X or Y chromosome is more typical than many individuals think, but it does not frequently receive medical attention,” Dr. Oetjens stated. “Our study reveals that there are underappreciated health risks related to these disorders that might alter healthcare if known beforehand.”
” VTE is a deadly, however preventable disease,” said Alex Berry, Ph.D., a staff scientist at Geisinger and the very first author of the study. “It is very important to recognize individuals at high risk for VTE to lessen unnecessary illness and death.”
The analysis likewise recommends that the loss of an X or Y chromosome, called Turner syndrome, is not related to a greater danger of embolism. More research is required to comprehend the medical ramifications of this association, the research team wrote.
Referral: “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.
VTE, a typically deadly condition, affects approximately 900,000 individuals in the United States every year. They found that approximately one in 500 Geisinger patients have an extra X or Y chromosome in their genome beyond the normal two discovered in females (XX) and males (XY). Those with an additional X or Y chromosome had a danger for VTE that was four to 5 times greater than expected.
Supernumerary sex chromosome aneuploidy describes a condition in which individuals have an extra sex chromosome, leading to an irregular variety of chromosomes in their cells. This condition can occur when there is an error in the department of chromosomes throughout cell division, leading to an unequal distribution of chromosomes in the resulting cells.
A Geisinger research study has discovered that individuals with supernumerary sex chromosome aneuploidy, a condition characterized by an extra X or Y chromosome, are at an increased danger of establishing venous thromboembolism (VTE), a type of embolism.
The findings were released in the Journal of the American Medical Association (JAMA).
VTE, an often fatal condition, affects approximately 900,000 individuals in the United States each year. This condition is a common issue for those in intensive care, in addition to for individuals with medical problems like cancer and COVID-19. VTE consists of deep vein thrombosis (a blood embolism in a deep vein, usually in the leg) and lung embolism (a blood clot in the lung).
