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1 in 500 men carry an extra sex chromosome, putting them at high risk for disease: study

Research suggests that approximately one in 500 men may carry an extra sex chromosome as previously thought, putting them at increased risk for conditions such as type 2 diabetes, atherosclerosis and thrombosis.

The study further indicates that men who had an extra X or Y chromosome are less likely to be aware of their affliction.

In the study, published in Genetics in Medicine, researchers analyzed genetic data collected on more than 200,000 British men aged 40 to 70 from UK Biobank, a biomedical database and research resource containing anonymised genetic, lifestyle and health information from half a million UK participants. .

Researchers at the University of Exeter examined the DNA of 207,067 men of European ancestry between the ages of 40 and 70. They identified 231 men with an extra X chromosome and 143 men with an extra Y chromosome.

The sex chromosomes determine our biological sex. Males usually have one X and one Y chromosome while females have two Xs. However, the study found that some males also carry an extra X or Y chromosome, XXY or XYY, which exposes them to an increased risk of health problems ranging from type 2 diabetes, blocked blood vessels and chronic obstructive pulmonary disease (COPD) – a lung condition.

Yajie Zhao, a PhD student at the University of Cambridge’s Medical Research Council (MRC) Epidemiology Unit, first author of the study, said in a statement: “Even though a significant number of men carry a extra sex, very few of them “That extra chromosome means they are at significantly higher risk for a number of common metabolic, vascular and respiratory diseases – diseases that can be prevented.”

Previous studies have shown that approximately one in 1,000 women has an extra X chromosome, which can lead to delayed language development and accelerated growth until puberty, as well as lower IQ levels than their peers. peers.

“We would need more research to assess whether there is additional value in broader screening for unusual chromosomes in the general population, but this could potentially lead to early interventions to help them avoid associated diseases,” said Professor Ken Ong, also from the MRC. Cambridge Epidemiology Unit and joint lead author, said in a statement.

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Post expires at 8:02am on Tuesday June 21st, 2022

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