Rare diabetes genetic variants identified
Thursday July 8th 2021
Genetic variants that are behind the biggest risks for developing type 2 diabetes have been identified for the first time, it has been announced.
Scientists from the Medical Research Council (MRC) Epidemiology Unit at the University of Cambridge, UK, examined data from more than 200,000 adults in the UK Biobank study to identify genetic variants associated with the loss of the Y chromosome, a known biomarker that has been linked to age-related diseases such as type 2 diabetes and cancer.
Writing in the latest edition of Nature Communications, they say they have identified rare variants in the gene GIGYF1 that substantially increase susceptibility to loss of the Y chromosome, thereby increasing six-fold an individual's risk of developing type 2 diabetes.
It is believed about one in 3,000 people carries the GIGYF1 genetic variant, making their risk of developing type 2 diabetes about 30%, compared to about 5% in the wider population.
The variant is thought to control insulin and cell growth factor signalling and the research team believe it could be a potential target for further studies on the common links between metabolic and cellular ageing.
Senior author Dr John Perry, from the MRC Epidemiology Unit, said: "Reading an individual's DNA is a powerful way of identifying genetic variants that increase our risk of developing certain diseases. For complex diseases such as type 2 diabetes, many variants play a role, but often only increasing our risk by a tiny amount. This particular variant, while rare, has a big impact on an individual's risk."
Professor Nick Wareham, director of the MRC Epidemiology Unit, added: "Our findings highlight the exciting scientific potential of sequencing the genomes of very large numbers of people. We are confident that this approach will bring a rich new era of informative genetic discoveries that will help us better understand common diseases such as type 2 diabetes. By doing this, we can potentially offer better ways to treat - or even to prevent - the condition."
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