ArticleNature genetics2024
Variants in tubule epithelial regulatory elements mediate most heritable differences in human kidney function.
Article in Nature genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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22 citing papers in PubMed.
- Potential circadian rhythm-related pathogenic genes in diabetic nephropathy: a multi-omics Mendelian randomization study.Renal failure · 2026Article
- The landscape of allele-specific expression in human kidneys.Science advances · 2026Article
- Functional genomic dissection and prediction of body size traits in pigs.Genetics, selection, evolution : GSE · 2026Article
- Genome-wide DNA methylation analysis revealed epigenetic mechanism underlying end-stage renal disease.Nature communications · 2026Article
- Translating genome-wide association studies at multiple scales: Drug target prioritization, cellular architectures, and organ imaging.Cell genomics · 2026Review
- Genetic Determinants of Microvascular Complications of Type 1 Diabetes Mellitus: New Data from a Replication Study.Biomedicines · 2026Article
- Blood DNA methylation markers are associated with diabetic kidney disease progression in type 1 diabetes.Diabetologia · 2026Article
- Connecting polygenic disease risk to cell states and regulatory programs through single-cell chromatin accessibility.bioRxiv : the preprint server for biology · 2026Article
- African ancestry-enriched variants in the GATM gene are associated with elevated serum creatinine levels.Genome medicine · 2026Article
- Systematic evaluation of single-cell multimodal data integration enhances cell type resolution and discovery of clinically relevant states in complex tissues.Genome biology · 2026Article
- Design of precision therapeutics for a CKD risk allele by targeting Shroom3-Rock interaction.Nature communications · 2025Article
- Computationally efficient whole-genome quantile regression at biobank scale.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Multi-omics integration reveals Chr1 associated QTL mediating backfat thickness in pigs.Journal of animal science and biotechnology · 2025Article
- Analysis of knockout mice reveals critical female-specific roles for the Hippo pathway component PTPN14.Genes & development · 2025Article
- Alternative Splicing in Mechanically Stretched Podocytes as a Model of Glomerular Hypertension.Journal of the American Society of Nephrology : JASN · 2025Article
- Regenie.QRS: computationally efficient whole-genome quantile regression at biobank scale.bioRxiv : the preprint server for biology · 2025Article
- Focus on a CKD-Associated Locus:Kidney international reports · 2025Article
- Clinical and Metabolic Signatures ofKidney international reports · 2025Article
- Systematic evaluation of single-cell multimodal data integration for comprehensive human reference atlas.bioRxiv : the preprint server for biology · 2025Article
- Shroom3-Rock interaction and profibrotic function: Resolving mechanism of an intronic CKD risk allele.bioRxiv : the preprint server for biology · 2024Article
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Abstract
Kidney failure, the decrease of kidney function below a threshold necessary to support life, is a major cause of morbidity and mortality. We performed a genome-wide association study (GWAS) of 406,504 individuals in the UK Biobank, identifying 430 loci affecting kidney function in middle-aged adults. To investigate the cell types affected by these loci, we integrated the GWAS with human kidney candidate cis-regulatory elements (cCREs) identified using single-cell assay for transposase-accessible chromatin sequencing (scATAC-seq). Overall, 56% of kidney function heritability localized to kidney tubule epithelial cCREs and an additional 7% to kidney podocyte cCREs. Thus, most heritable differences in adult kidney function are a result of altered gene expression in these two cell types. Using enhancer assays, allele-specific scATAC-seq and machine learning, we found that many kidney function variants alter tubule epithelial cCRE chromatin accessibility and function. Using CRISPRi, we determined which genes some of these cCREs regulate, implicating NDRG1, CCNB1 and STC1 in human kidney function.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.