A recent study conducted by researchers from Queen Mary University of London’s Blizard Institute and The University of Queensland’s Institute for Molecular Bioscience has revealed a potential link between ribosomal DNA (rDNA) copy number and an individual’s susceptibility to inflammation and various diseases. While previous genetic analyses have not focused on repetitive regions of the human genome such as rDNA, this study suggests that genetic predispositions to diseases can be found in these often overlooked areas. By analyzing samples from 500,000 individuals in the UK Biobank project using whole genome sequencing, researchers were able to identify differences in rDNA copy numbers and their associations with various health metrics and medical records.
The study found that individuals with higher numbers of rDNA copies displayed strong statistical associations with markers of systemic inflammation, such as Neutrophil-to-Lymphocyte ratio (NLR), Platelet-to-Lymphocyte ratio (PLR), and Systemic Immune-Inflammation index (SII). These associations were consistent across different ethnicities, indicating a common indicator for future disease risk. Additionally, rDNA copy number was correlated with kidney function in individuals of European ancestry, with similar effects observed in samples from other ancestries. However, further research with larger sample sizes will be needed to validate these findings.
Professor Vardhman Rakyan emphasized the importance of analyzing the entire genome to gain a better understanding of factors influencing health. He also highlighted the role of large biobanks in enabling unexpected discoveries and offering new avenues for leveraging genetics to study human diseases. Professor David Evans noted that the study’s findings suggest that part of the missing heritability of common complex traits and diseases may lie in regions of the genome, such as those encoding ribosomal copy number variation, that are difficult to sequence.
The study’s results hold significant implications for preventative diagnostics, novel therapeutics, and a deeper understanding of the mechanisms underlying various human diseases. Victoria King, Director of Funding and Impact at Barts Charity, expressed enthusiasm for the potential of this research to improve prevention and treatment strategies for a wide range of diseases. By examining previously overlooked regions of the genome, this study underscores the importance of conducting comprehensive genetic analyses to uncover genetic factors that influence health and disease susceptibility.
Overall, the study highlights the potential of analyzing repetitive regions of the genome, such as rDNA, to identify genetic predispositions to inflammation and diseases. By leveraging whole genome sequencing techniques and large biobank resources, researchers were able to uncover associations between rDNA copy number and systemic inflammation, as well as kidney function. These findings provide valuable insights into the genetic basis of complex traits and diseases, offering new opportunities for personalized medicine and disease prevention strategies based on an individual’s genetic profile.