Analysis of Previously Understudied Areas of Genomes of 500,000 People Indicates That Individuals Who Have More Copies of Ribosomal DNA (rDNA) Are More Likely to Develop Inflammation and Diseases During Their Lifetimes

The structure of the ribosome (large subunit colored gold, small subunit blue, shown as a cartoon) in complex with transfer RNA (tRNA – yellow, green, magenta) and elongation factor Tu (EF-Tu - red) shown as solid surfaces. EF-Tu (red) prevents the entry of the aminoacyl-tRNA (magenta) into the active site until the code has been correctly recognized (Image credit: Rebecca Voorhees and Martin Schmeing).

Standard genetic analysis techniques have not studied areas of the human genome that are repetitive, such as ribosomal DNA (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 Queen Mary University of London’s 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 May 14 in Cell Genomics and co-funded by Barts Charity, analyzed samples from 500,000 people in 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. 

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