Living in certain areas in the UK could increase the risk of developing diseases, a new study has revealed. The research, led by the University of Edinburgh, identified genetic variations in isolated regions such as Shetland and Orkney, where disease-causing variants are over 100 times more common compared to other parts of the UK.
Populations in north and south Wales, south-east Scotland, Ireland, and parts of England were also found to carry genetic variants up to 73 times more common than in the general population. The study analysed data from over 44,000 individuals across 20 UK regions, highlighting the impact of ancestry on health in remote communities. The lack of genetic diversity in these areas, due to fewer people moving in and out, can lead to certain disease-causing genetic variants becoming more prevalent and passed down through generations.
In Shetland, the study identified six disease-causing variants, including one associated with Batten disease, which affects children and can have severe health implications. The research emphasised the importance of targeted genetic screening in regional populations to identify individuals at risk of specific diseases. Moreover, the study found nine disease-causing variants in Wales, with one variant causing an inherited form of kidney stones disorder being 44 times more common in south Wales than in the wider population.
While regions in England were not as genetically distinct, rare disease-causing variants were still found to be more prevalent in areas like Lancashire, Staffordshire, and Nottinghamshire. This underscores the need for further research into rare genetic variants across the UK and the importance of tailoring genetic screening programmes to account for common variants in specific regions.
The study, funded by the Medical Research Council Human Genetics Unit, revealed key insights into the association between genetic diversity, regional populations, and disease prevalence. The findings have significant implications for genomic medicine strategies and the implementation of targeted genetic screening to address the heightened risk of certain diseases in specific UK regions.