A recent study conducted by researchers at Queen Mary University of London has revealed a significant association between ribosomal DNA (rDNA) copy number and the risk of developing inflammation and diseases. The study, which analyzed samples from 500,000 individuals in the UK Biobank project, found that individuals with a higher number of rDNA copies were more likely to experience health issues during their lifetimes.
Unlike traditional genetic analysis techniques that focus on non-repetitive regions of the genome, this study delved into the repetitive nature of rDNA, a crucial component in protein synthesis within cells. Led by Vardhman Rakyan, Francisco Rodriguez-Algarra, and David Evans, the research sheds light on the genetic predisposition to diseases that can be identified in these previously overlooked areas of the genome.
The findings of the study suggest that a broader genome analysis could offer opportunities for early disease detection, innovative treatment approaches, and a deeper understanding of various human diseases. The research, co-funded by Barts Charity, Rosetrees Trust, and the Biotechnology and Biological Sciences Research Council (BBSRC), utilized advanced whole genome sequencing (WGS) techniques to explore variations in rDNA copy numbers among the study participants.
Notably, the study revealed a strong correlation between the number of rDNA copies and markers of systemic inflammation, such as the Neutrophil-to-Lymphocyte ratio (NLR), Platelet-to-Lymphocyte ratio (PLR), and Systemic Immune-Inflammation index (SII). These associations were consistent across individuals of diverse ethnic backgrounds, indicating a universal indicator for assessing future disease risks.
Furthermore, the research demonstrated a connection between rDNA copy number and kidney function in individuals of European descent. While similar trends were observed in other ancestral groups, additional studies with larger sample sizes are necessary to validate these findings.
Professor Vardhman Rakyan emphasized the significance of comprehensive genome analysis in unraveling the factors influencing human health. The study underscores the value of leveraging extensive biobanks to uncover unforeseen discoveries and leverage genetic insights for improved healthcare outcomes.
