Ribosomal DNA copy number variation associates with hematological profiles and renal function in the UK Biobank

被引：4

作者：

Rodriguez-Algarra, Francisco ^{[1
]}

Evans, David M. ^{[2
,3
,4
]}

Rakyan, Vardhman K. ^{[1
]}

机构：

[1] Queen Mary Univ London, Blizard Inst, Sch Med & Dent, London E1 2AT, England

[2] Univ Queensland, Inst Mol Biosci, Brisbane, Qld 4072, Australia

[3] Univ Queensland, Frazer Inst, Brisbane, Qld 4102, Australia

[4] Univ Bristol, MRC Integrat Epidemiol Unit, Bristol BS8 2BN, England

来源：

CELL GENOMICS | 2024年 / 4卷 / 06期

基金：

英国生物技术与生命科学研究理事会; 英国医学研究理事会;

关键词：

GENOME; TRAITS; GENETICS; RARE;

D O I：

10.1016/j.xgen.2024.100562

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

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.

引用

页数：25

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