Research led by Queen Mary suggests that people with more copies of ribosomal DNA have higher risks of developing disease

Standard genetic analysis techniques have not studied areas of the human genome that are repetitive, such as rDNA - a fundamental part of the molecular mechanism which makes proteins in cells. A new study, led by Vardhman Rakyan and Francisco Rodriguez-Algarra from the Blizard Institute in collaboration with David Evans from The University of Queensland’s Institute for Molecular Bioscience, has discovered that genetic disposition to disease can be found in these previously understudied areas of the genome.  

The study, published today in Cell Genomics and co-funded by Barts Charity, analysed samples from the UK Biobank to identify differences in numbers of copies of rDNA and compared them with other health metrics and medical records. Results showed strong statistical association between the number of copies of rDNA present and well-established markers of systemic inflammation. Further results indicating a link between the number of rDNA copies and kidney function was also seen in samples from people with European ancestry, and further research will be needed to establish whether this connection is also present in samples from other ancestries. 

Overall, the study’s results suggest that wider genome analysis could bring opportunities for preventative diagnostics, novel therapeutics, and greater insight into the mechanism of different human diseases.  

Professor Vardhman Rakyan, from the Genomics and Child Health in the Blizard Institute at Queen Mary, said: “Our research highlights the importance of analysing the whole genome to better understand the factors impacting on our health. This study is also an example of how having access to large biobanks allows us to make unexpected discoveries, and provides new avenues for harnessing the power of genetics to understand human diseases.”   

Victoria King, Director of Funding and Impact at Barts Charity, said: “We’re delighted to have supported this work which could lead to better prevention and treatment for many different diseases. Using samples from UK Biobank participants, this study highlights the exciting potential of examining previously overlooked areas of the genome.”