One in 500 men may carry an extra chromosome

A genetic analysis of more than 200,000 British men indicates that about one in every 500 has an extra sex chromosome. Most ignore it. However, this observation is important because it may increase the risk of diseases such as diabetes and cardiovascular problems. Details of the study were published in the journal Genetics in Medicine.

Sex chromosomes determine our biological sex. Males usually have one X chromosome and one Y chromosome, while females have an X chromosome. However, some males also have an extra X or Y chromosome (XXY or XYY). Population prevalence estimates are 100 per 100,000 men Based on 18 to 100 per 100,000 men Straight.

Men with Klinefelter syndrome (those with an extra X chromosome) usually present in adolescence with delayed puberty or infertile adulthood. Other characteristics include adult height, higher body fat percentage, lower muscle strength, lower bone mineral density, and increased risk of neurocognitive impairment, psychosis, and personality disorders. Finally, the syndrome has also been associated with a higher risk of type 2 diabetes.

In contrast, the status of the extra Y chromosome is less distinct. Affected males tend to be taller than boys and adults, but other than that they do not have distinct physical characteristics.

One out of every 500 men is affected

In order to better understand its prevalence, a team from the University of Cambridge in collaboration with researchers from the University of Exeter analyzed data collected by the Biobank project in the UK. It is a biomedical database and research resource containing anonymous genetic information about the lifestyle and health of half a million participants in the UK. For this work, the researchers focused on genetic data collected from more than 200,000 British men aged 40-70.

Select the scholars 213 men have an X chromosome. extra and 143 men with Y additional. Taking into account the general health of the participants, the team roughly calculated that One in every 500 men In the general population it may carry an extra sex chromosome. This is a much higher percentage than previously thought.

Of the 213 cases with an extra X chromosome, only 49 (or 23%) were diagnosed with Klinefelter syndrome, while only 1 out of 143 men was diagnosed with an extra Y chromosome. This is due to the reasons mentioned in the preamble.

Schematic diagram of chromosomes. Credits: Flickr / Zappys Technology Solutions

Subjects most at risk in terms of health

The researchers then examined the health of these participants and compared them to the rest of the population in the database. It found that men with XXY chromosomes had significantly lower levels of testosterone in their blood. They also had a three times higher risk of delayed puberty and were four times more likely to experience infertility. Men with an extra Y chromosome appear to have normal reproductive function. In contrast, all men in these two groups were found to be more likely to develop type 2 diabetes, venous thrombosis, pulmonary embolism, or COPD.

The team still doesn’t know why having an extra chromosome might increase these risks or why the two conditions look similar. More work will be needed to try to answer this question. Ultimately, it may be worth starting to examine the extra chromosomes as a potential way to do so Prevent these various diseases associated with.



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