Study reveals association between ribosomal DNA copy number and disease risk

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Ribosomal DNA (rDNA) is present in hundreds of copies in the genome, but has not previously been part of genetic analyses.

May 15 2024Queen Mary University of London Ribosomal DNA is present in hundreds of copies in the genome, but has not previously been part of genetic analyses. A new study of 500,000 individuals indicates that people who have more copies of r DNA are more likely to develop inflammation and diseases during their lifetimes.

In this study, co-funded by Barts Charity, Rosetrees Trust, and the Biotechnology and Biological Sciences Research Council , samples from 500,000 individuals in the UK Biobank project were analysed. Researchers used new whole genome sequencing techniques to identify differences in numbers of copies of rDNA in each sample, and compared them with other health metrics and medical records.

rDNA copy number was also linked with an individual's kidney function within the sample of individuals of European ancestry. A similar effect was seen in samples from other ancestries, but further research using larger sample sizes will be needed to confirm this connection.

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