Ribosomal DNA Copy Number Variation Associates with Hematological Profiles and Renal Function in the UK Biobank

Overview

Journal Cell Genom

Date 2024 May 15

PMID 38749448

Authors

Francisco Rodriguez-Algarra

David M Evans

Vardhman K Rakyan

Affiliations

Soon will be listed here.

Abstract

The phenotypic impact of genetic variation of repetitive features in the human genome is currently understudied. One such feature is the multi-copy 47S ribosomal DNA (rDNA) that codes for rRNA components of the ribosome. Here, we present an analysis of rDNA copy number (CN) variation in the UK Biobank (UKB). From the first release of UKB whole-genome sequencing (WGS) data, a discovery analysis in White British individuals reveals that rDNA CN associates with altered counts of specific blood cell subtypes, such as neutrophils, and with the estimated glomerular filtration rate, a marker of kidney function. Similar trends are observed in other ancestries. A range of analyses argue against reverse causality or common confounder effects, and all core results replicate in the second UKB WGS release. Our work demonstrates that rDNA CN is a genetic influence on trait variance in humans.

Citing Articles

Impacts of ribosomal RNA sequence variation on gene expression and phenotype.

Welfer G, Brady R, Natchiar S, Watson Z, Rundlet E, Alejo J Philos Trans R Soc Lond B Biol Sci. 2025; 380(1921):20230379.

PMID: 40045785 PMC: 11883441. DOI: 10.1098/rstb.2023.0379.

Germline sequence variation within the ribosomal DNA is associated with human complex traits.

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