Living in certain regions may increase the risk of developing diseases, a new study has found. The research indicates that people in isolated parts of the UK might have genetic variations that make them more susceptible to certain illnesses. The study, led by the University of Edinburgh, discovered that the most genetically distinct populations are found in Shetland and Orkney, where disease-causing genetic variants are over 100 times more prevalent than in other parts of the UK.
Additionally, populations in north and south Wales, south-east Scotland, Ireland, and some parts of England were also found to carry genetic variants that are up to 73 times more common compared to the wider population. The study highlighted the presence of six disease-causing variants in the Shetland population, including one linked to Batten disease, a neurodegenerative disorder in children.
The research team explained that these regions have less genetic diversity due to fewer people moving in and out, which can lead to rare genetic variants becoming more common and being passed down through generations. They emphasized that some genetic variants may only result in disease if a person inherits two copies of it in their DNA.
The study analysed genetic data from over 44,000 individuals across 20 UK regions. Regions like Shetland, Orkney, and Wales displayed significantly higher frequencies of disease-causing variants. In Wales, for instance, an inherited form of kidney stones disorder was found to be 44 times more common than in the general population.
Professor Jim Wilson, the lead researcher, highlighted the importance of genetic screening in such populations to identify individuals at risk of inherited disorders. The research team identified nine disease-causing variants in Wales, shedding light on the need for tailored genetic screening programmes in different regions of the UK.
While the study found that the 10 English regions included were not as genetically distinct, rare variants were still more prevalent in areas like Lancashire, Staffordshire, and Nottinghamshire. Further research into rare genetic variants across the UK is warranted, the researchers concluded. The study, funded by the Medical Research Council Human Genetics Unit, was published in the journal Nature Communications.