SynthesisAmerican journal of human genetics2016
Trans-ethnic Fine Mapping Highlights Kidney-Function Genes Linked to Salt Sensitivity.
Synthesis in American journal of human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers, 9 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
44 citing papers in PubMed, 9 syntheses or guidelines pooled it, 72 citations in OpenAlex.
- Trans-ancestry GWAS identifies 59 loci and improves risk prediction and fine-mapping for kidney stone disease.Nature communications · 2025Pooled it
- Mendelian pathway analysis of laboratory traits reveals distinct roles for ciliary subcompartments in common disease pathogenesis.American journal of human genetics · 2021Pooled it
- Large genome-wide association study identifies three novel risk variants for restless legs syndrome.Communications biology · 2020Pooled it
- A catalog of genetic loci associated with kidney function from analyses of a million individuals.Nature genetics · 2019Pooled it
- Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis.Nature communications · 2019Pooled it
- Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies.Nature communications · 2019Pooled it
- Genetic Variants Associated with Circulating Fibroblast Growth Factor 23.Journal of the American Society of Nephrology : JASN · 2018Pooled it
- Genome-wide association studies and CRISPR/Cas9-mediated gene editing identify regulatory variants influencing eyebrow thickness in humans.PLoS genetics · 2018Pooled it
- Trans-ethnic meta-regression of genome-wide association studies accounting for ancestry increases power for discovery and improves fine-mapping resolution.Human molecular genetics · 2017Pooled it
- Genetic contributions to lupus nephritis in a multi-ethnic cohort of systemic lupus erythematous patients.PloS one · 2018Trial
- Salt and chronic kidney disease.Nature reviews. Nephrology · 2026Review
- Review
- Cell type-stratified immunogenetic framework reveals immune drivers and therapeutic targets in kidney stone disease.Molecular therapy. Nucleic acids · 2026Article
- African ancestry-enriched variants in the GATM gene are associated with elevated serum creatinine levels.Genome medicine · 2026Article
- A Comprehensive Analysis of the Impact of Nutrient Intakes on the Stages and Mortality of Cardiovascular-Kidney-Metabolic Syndrome.Food science & nutrition · 2026Article
- Discovering Novel Loci of Chronic Kidney Disease via Principal Component Analysis-Based Multiple-Trait Genome-Wide Association Study.American journal of nephrology · 2025Article
- Proteome-wide mendelian randomization identifies novel therapeutic targets for chronic kidney disease.Scientific reports · 2024Article
- Hierarchical joint analysis of marginal summary statistics-Part I: Multipopulation fine mapping and credible set construction.Genetic epidemiology · 2024Article
- Multivariate canonical correlation analysis identifies additional genetic variants for chronic kidney disease.NPJ systems biology and applications · 2024Article
- Genetic association and transferability for urinary albumin-creatinine ratio as a marker of kidney disease in four Sub-Saharan African populations and non-continental individuals of African ancestry.Frontiers in genetics · 2024Article
Corrections and comments
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Authors and funding
40 authors at 15 institutions in 5 countries.
Funding
Abstract
We analyzed genome-wide association studies (GWASs), including data from 71,638 individuals from four ancestries, for estimated glomerular filtration rate (eGFR), a measure of kidney function used to define chronic kidney disease (CKD). We identified 20 loci attaining genome-wide-significant evidence of association (p < 5 × 10(-8)) with kidney function and highlighted that allelic effects on eGFR at lead SNPs are homogeneous across ancestries. We leveraged differences in the pattern of linkage disequilibrium between diverse populations to fine-map the 20 loci through construction of "credible sets" of variants driving eGFR association signals. Credible variants at the 20 eGFR loci were enriched for DNase I hypersensitivity sites (DHSs) in human kidney cells. DHS credible variants were expression quantitative trait loci for NFATC1 and RGS14 (at the SLC34A1 locus) in multiple tissues. Loss-of-function mutations in ancestral orthologs of both genes in Drosophila melanogaster were associated with altered sensitivity to salt stress. Renal mRNA expression of Nfatc1 and Rgs14 in a salt-sensitive mouse model was also reduced after exposure to a high-salt diet or induced CKD. Our study (1) demonstrates the utility of trans-ethnic fine mapping through integration of GWASs involving diverse populations with genomic annotation from relevant tissues to define molecular mechanisms by which association signals exert their effect and (2) suggests that salt sensitivity might be an important marker for biological processes that affect kidney function and CKD in humans.
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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.