ArticleNature genetics2022
Epigenomic and transcriptomic analyses define core cell types, genes and targetable mechanisms for kidney disease.
Article in Nature genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 143 papers, 8 of them syntheses that pooled it.
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Who cites it
143 citing papers in PubMed, 8 syntheses or guidelines pooled it, 205 citations in OpenAlex.
- Genetic determinants of zinc homeostasis and its role in cardiometabolic diseases.PLoS genetics · 2025Pooled it
- Trans-ancestry GWAS identifies 59 loci and improves risk prediction and fine-mapping for kidney stone disease.Nature communications · 2025Pooled it
- Genome-wide characterization of 54 urinary metabolites reveals molecular impact of kidney function.Nature communications · 2025Pooled it
- Genome-wide association study of hospitalized patients and acute kidney injury.Kidney international · 2024Pooled it
- X-chromosome and kidney function: evidence from a multi-trait genetic analysis of 908,697 individuals reveals sex-specific and sex-differential findings in genes regulated by androgen response elements.Nature communications · 2024Pooled it
- Uncovering myocardial infarction genetic signatures using GWAS exploration in Saudi and European cohorts.Scientific reports · 2023Pooled it
- Integrative genome-wide analyses identify novel loci associated with kidney stones and provide insights into its genetic architecture.Nature communications · 2023Pooled it
- Epigenome-wide meta-analysis identifies DNA methylation biomarkers associated with diabetic kidney disease.Nature communications · 2022Pooled it
- Gene-environment interaction modifies the association between hyperinsulinemia and serum urate levels through SLC22A12.The Journal of clinical investigation · 2025Trial
- The landscape of allele-specific expression in human kidneys.Science advances · 2026Article
- Evolution of MAF and OTX families during the emergence and stabilization of rod photoreceptors across Metazoans.Research square · 2026Article
- Post-genome-wide association study variant-to-function challenges in asthma research.The Journal of allergy and clinical immunology · 2026Review
- Genome-wide DNA methylation analysis revealed epigenetic mechanism underlying end-stage renal disease.Nature communications · 2026Article
- Salt and chronic kidney disease.Nature reviews. Nephrology · 2026Review
- Long-Read Sequencing in CKD Diagnostics: Breaking Genomic Barriers and Expanding Global Inclusion.Kidney international reports · 2026Review
- ELF3 links kidney function GWAS loci to maladaptive epithelial inflammation.Science advances · 2026Article
- Nicotine-Mediated Redox and Nitrosative Stress in Cardiorenal Health.Hypertension (Dallas, Tex. : 1979) · 2026Review
- Epigenetic regulation of nephrogenesis: from Waddington's landscape to adult disease.American journal of physiology. Renal physiology · 2026Review
- Epigenetics-mediated pathological alterations and their diagnostic and therapeutic potential in sepsis-associated acute kidney injury.Clinical epigenetics · 2026Review
- Maternal obesity induces macrophage to myofibroblast transition in kidneys of male offspring through a pathway driven by 20-hydroxyeicosatetraenoic acid.Nature communications · 2026Article
83 more citing papers are in PubMed but not listed here.
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Authors and funding
17 authors at 5 institutions in 1 country.
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Abstract
More than 800 million people suffer from kidney disease, yet the mechanism of kidney dysfunction is poorly understood. In the present study, we define the genetic association with kidney function in 1.5 million individuals and identify 878 (126 new) loci. We map the genotype effect on the methylome in 443 kidneys, transcriptome in 686 samples and single-cell open chromatin in 57,229 kidney cells. Heritability analysis reveals that methylation variation explains a larger fraction of heritability than gene expression. We present a multi-stage prioritization strategy and prioritize target genes for 87% of kidney function loci. We highlight key roles of proximal tubules and metabolism in kidney function regulation. Furthermore, the causal role of SLC47A1 in kidney disease is defined in mice with genetic loss of Slc47a1 and in human individuals carrying loss-of-function variants. Our findings emphasize the key role of bulk and single-cell epigenomic information in translating genome-wide association studies into identifying causal genes, cellular origins and mechanisms of complex traits.
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Registered trials
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.