ArticleNature genetics2021
Mapping the genetic architecture of human traits to cell types in the kidney identifies mechanisms of disease and potential treatments.
Article in Nature genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 111 papers, 9 of them syntheses that pooled it.
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Who cites it
111 citing papers in PubMed, 9 syntheses or guidelines pooled it, 155 citations in OpenAlex.
- 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
- Discovery and prioritization of genetic determinants of kidney function in 297,355 individuals from Taiwan and Japan.Nature communications · 2024Pooled it
- Pooled it
- Genome-wide association study of hospitalized patients and acute kidney injury.Kidney international · 2024Pooled it
- Shared genetic effect of kidney function on bipolar and major depressive disorders: a large-scale genome-wide cross-trait analysis.Human genomics · 2024Pooled it
- Integrative genome-wide analyses identify novel loci associated with kidney stones and provide insights into its genetic architecture.Nature communications · 2023Pooled it
- Meta-analysis of African ancestry genome-wide association studies identified novel locus and validates multiple loci associated with kidney function.BMC genomics · 2023Pooled it
- Meta-analyses identify DNA methylation associated with kidney function and damage.Nature communications · 2021Pooled it
- Genotype-driven variations in lncRNA expression underlie predisposition to high-grade serous ovarian cancer.Journal of advanced research · 2026Article
- Mapping genetic regulation of gene expression to cellular contexts identifies long non-coding RNAs associated with brain disorders.Nature communications · 2026Article
- Inherited Susceptibility to Urinary Tract Infections from Kidney Papilla to Bladder.medRxiv : the preprint server for health sciences · 2026Article
- Long-Read Sequencing in CKD Diagnostics: Breaking Genomic Barriers and Expanding Global Inclusion.Kidney international reports · 2026Review
- IBAS: Interaction-bridged association studies discovering novel genes underlying complex traits.PLoS computational biology · 2026Article
- ELF3 links kidney function GWAS loci to maladaptive epithelial inflammation.Science advances · 2026Article
- nanoASM: Long-Read Allele-Specific DNA Methylation Profiling Enables Functional Annotation of Regulatory Noncoding Variants in Human Prostate Tissues.bioRxiv : the preprint server for biology · 2026Article
- Robust footprinting with sample-specific Tn5 bias correction for bulk and single cell ATAC-seq.Nature communications · 2026Article
- Genetic Risk Factors for Intracerebral Hemorrhage in Populations of East Asian Ancestry.Neurology. Genetics · 2026Article
- Mapping shared genetic determinants of eGFR and albuminuria with a focus on type 2 diabetes: a large-scale European study.BMJ open diabetes research & care · 2026Observational
- Integrative Genomic Analyses IdentifybioRxiv : the preprint server for biology · 2026Article
51 more citing papers are in PubMed but not listed here.
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Authors and funding
21 authors at 8 institutions in 2 countries.
Funding
Abstract
The functional interpretation of genome-wide association studies (GWAS) is challenging due to the cell-type-dependent influences of genetic variants. Here, we generated comprehensive maps of expression quantitative trait loci (eQTLs) for 659 microdissected human kidney samples and identified cell-type-eQTLs by mapping interactions between cell type abundances and genotypes. By partitioning heritability using stratified linkage disequilibrium score regression to integrate GWAS with single-cell RNA sequencing and single-nucleus assay for transposase-accessible chromatin with high-throughput sequencing data, we prioritized proximal tubules for kidney function and endothelial cells and distal tubule segments for blood pressure pathogenesis. Bayesian colocalization analysis nominated more than 200 genes for kidney function and hypertension. Our study clarifies the mechanism of commonly used antihypertensive and renal-protective drugs and identifies drug repurposing opportunities for kidney disease.
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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.