Ribosomal DNA (rDNA) is found in numerous copies in the genome, but has not been included in genetic analyses before. A recent study involving 500,000 individuals suggests that those with more copies of rDNA are at a higher risk of experiencing inflammation and developing diseases throughout their lives.Genetic analysis methods have typically overlooked repetitive sections of the human genome, including rDNA, which plays a crucial role in protein production. However, a recent study led by Vardhman Rakyan and Francisco Rodriguez-Algarra from Queen Mary University of London’s Blizard Institute, in partnership with David Evans from The University of Queensland’s Institute for Molecular Bioscience, has revealed that disease predisposition can be identified in these neglected areas of the genome. These findings indicate that examining a wider range of the genome could lead to new possibilities for early disease detection.The study, which received funding from Barts Charity, Rosetrees Trust, and the Biotechnology and Biological Sciences Research Council (BBSRC), analyzed samples from 500,000 individuals in the UK Biobank project. Using advanced whole genome sequencing (WGS) techniques, researchers discovered variations in the number of copies of rDNA in each sample and compared them with other health metrics and medical records. The results showed a significant statistical correlation between the number of copies of rDNA in an individual and established markers of various human diseases. This breakthrough provides a foundation for the development of new treatments and a deeper understanding of the mechanisms behind different human diseases.The study found that markers of systemic inflammation, such as Neutrophil-to-Lymphocyte ratio (NLR), Platelet-to-Lymphocyte ratio (PLR), and Systemic Immune-Inflammation index (SII), were significantly associated with genetic variations across different ethnicities. This suggests that these markers could be a common indicator for future disease risks.
In addition, the study also linked rDNA copy number with kidney function in individuals of European ancestry. Similar effects were observed in other ancestral groups, but more research with larger sample sizes is needed to confirm these findings. Professor Vardhman Rakyan, from the GenoThe Blizard Institute at Queen Mary’s Elisabeth Mics, who specializes in Genetics and Child Health, emphasized the significance of analyzing the entire genome to gain a deeper understanding of the factors that affect our health. This research serves as an example of how access to extensive biobanks can lead to unexpected discoveries and open up new opportunities for using genetics to comprehend human diseases.
David Evans, a professor at The University of Queensland’s Institute for Molecular Bioscience, noted the ongoing challenge for geneticists to fully explain the genetic basis of many common complex traits and diseases. Their research indicates that at leastThis unaccounted for genetic material is located in parts of the genome that are hard to sequence, such as those that contain variations in the number of ribosomal copies.”
Victoria King, the Director of Funding and Impact at Barts Charity, expressed her satisfaction with the support provided for this research, which could potentially lead to improved prevention and treatment for various diseases. The study, which utilized samples from UK Biobank participants, demonstrates the promising possibility of exploring previously disregarded sections of the genome.”
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