Health / Scientists uncover higher disease risk caused by gene variations
TARGETTED screening for early detection of genetic disorders has been recommended by scientists from the University of Edinburgh after research revealed that one in 41 Shetlanders are carrying a disease-causing variant linked to batten disease.
Batten disease is a life-limiting neurodegenerative condition in children.
Researchers identified a total of six disease-causing variants among those from Shetland.
A study led by Professor Jim Flett Wilson, published here, suggests that people from isolated parts of the UK could have variations in their genetic code that increase their chance of developing certain diseases.
He said the most genetically distinct populations were found in Shetland and Orkney, where some disease-causing variants – changes in the DNA sequence that make up a gene – were more than 100 times more common than elsewhere in the UK.
Scientists also identified populations in north and south Wales, southeast Scotland, Ireland and parts of England who carry genetic variants that are up to 73 times more common than in the general population.
The findings highlight the important link between ancestry and health, particularly among remote communities, experts say. Wilson said because populations in isolated locations were less genetically diverse than in cities, genetic variants could become common and pass down through generations.
The University of Edinburgh-led research team looked at anonymised genetic information from more than 44,000 people across 20 regions in the UK, based on data from the UK BioBank and VIKING Genes studies.
The research team also found nine disease-causing variants at much higher frequencies in Wales, including one causing an inherited form of kidney stones disorder, which is 44 times more common in south Wales than in the general population.
The findings highlight the need for further research into rare genetic variants in regions across the UK, Wilson said.
“The enrichment of otherwise rare disease-causing genetic variants in regional populations in Britain, particularly in Shetland, but also Orkney and Wales, should inform genomic medicine strategies,” he said.
“Targeted screening for genetic disorders is common in Jewish populations, including in England. Our results show that genetic screening is also warranted in other UK communities, particularly Shetland.”
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