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Updated: Jun 26, 2025
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Published on: January 22, 2013
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Ribosomal DNA copy number variation associates with hematological profiles and renal function in the UK Biobank
Francisco Rodriguez-Algarra1, David M Evans2, Vardhman K Rakyan1
1The Blizard Institute, School of Medicine and Dentistry, Queen Mary University of London, London E1 2AT, UK.
Cell Genomics
|May 15, 2024
Summary
Genetic variation in ribosomal DNA (rDNA) copy number (CN) influences human traits. This study found rDNA CN associates with blood cell counts and kidney function, demonstrating its role in trait variance.
Area of Science:
- Genomics
- Human Genetics
- Molecular Biology
Background:
- Repetitive genomic elements, like multi-copy 47S ribosomal DNA (rDNA), are understudied for their phenotypic impact.
- Ribosomal DNA (rDNA) encodes essential rRNA components for protein synthesis.
Purpose of the Study:
- To analyze the variation in rDNA copy number (CN) within the human genome.
- To investigate the association between rDNA CN and human phenotypic traits using UK Biobank data.
Main Methods:
- Whole-genome sequencing (WGS) data from the UK Biobank (UKB) was utilized.
- Analysis focused on rDNA copy number (CN) variation and its correlation with phenotypic data.
- Statistical methods were employed to rule out reverse causality and confounding factors.
Main Results:
- rDNA copy number (CN) variation was associated with altered neutrophil counts and estimated glomerular filtration rate (kidney function).
- These associations were observed across different ancestries within the UK Biobank.
- Core findings were replicated using a second release of UKB WGS data, confirming robustness.
Conclusions:
- Ribosomal DNA (rDNA) copy number (CN) represents a significant genetic factor influencing human trait variance.
- This study highlights the phenotypic consequences of genetic variation in repetitive genomic regions.
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