ArticleAmerican journal of human genetics2017
Genetic-Variation-Driven Gene-Expression Changes Highlight Genes with Important Functions for Kidney Disease.
Article in American journal of human genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 67 papers, 5 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
67 citing papers in PubMed, 5 syntheses or guidelines pooled it, 99 citations in OpenAlex.
- Genome-Wide Association Study for eGFR in a Taiwanese Population.Clinical journal of the American Society of Nephrology : CJASN · 2022Pooled it
- Genome-wide meta-analysis and omics integration identifies novel genes associated with diabetic kidney disease.Diabetologia · 2022Pooled it
- Differential and shared genetic effects on kidney function between diabetic and non-diabetic individuals.Communications biology · 2022Pooled it
- Discovery of 318 new risk loci for type 2 diabetes and related vascular outcomes among 1.4 million participants in a multi-ancestry meta-analysis.Nature genetics · 2020Pooled it
- Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis.Nature communications · 2019Pooled it
- Novel associations of Claudin gene variants with kidney stone disease.Clinical kidney journal · 2026Article
- A genome-wide Mendelian randomization study focusing on endoplasmic reticulum stress reveals novel genetic markers for renal cell carcinoma.Oncology letters · 2026Article
- From GWAS Signals to Causal Genes in Chronic Kidney Disease.Current issues in molecular biology · 2026Review
- The proteogenomic landscape of the human kidney and implications for cardio-kidney-metabolic health.Nature medicine · 2025 · on this mapArticle
- SLC39A8-mediated zinc dyshomeostasis potentiates kidney disease.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Augmenting precision medicine via targeted RNA-Seq detection of expressed mutations.NPJ precision oncology · 2025Article
- The actin and microtubule network regulator WHAMM is identified as a key kidney disease risk gene.Cell reports · 2025Article
- A guide to studying 3D genome structure and dynamics in the kidney.Nature reviews. Nephrology · 2025Review
- METTL10 attenuates adriamycin-induced podocyte injury by targeting cell dedifferentiation.Scientific reports · 2025Article
- A Primary Care Guide to the Screening and Pharmacologic Management of Chronic Kidney Disease in People Living With Type 2 Diabetes.Clinical diabetes : a publication of the American Diabetes Association · 2025Article
- siRNA-mediated therapeutic approaches improve acute kidney injury and limit its worsening.Frontiers in pharmacology · 2025Review
- Interactive effects between lead-cadmium co-exposure and VEGFA gene polymorphisms on renal dysfunction: a gene-environment interaction study.Frontiers in public health · 2025Article
- Contribution of ECT2 to Tubulointerstitial Fibrosis in the Progression of Chronic Kidney Disease.Current medical science · 2024Article
- TET2 germline variants promote kidney disease by impairing DNA repair and activating cytosolic nucleotide sensors.Nature communications · 2024Article
- Cardiometabolic traits mediating the effect of education on the risk of DKD and CKD: a Mendelian randomization study.Frontiers in nutrition · 2024Article
7 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors at 2 institutions in 2 countries.
Funding
Abstract
Chronic kidney disease (CKD) is a complex gene-environmental disease affecting close to 10% of the US population. Genome-wide association studies (GWASs) have identified sequence variants, localized to non-coding genomic regions, associated with kidney function. Despite these robust observations, the mechanism by which variants lead to CKD remains a critical unanswered question. Expression quantitative trait loci (eQTL) analysis is a method to identify genetic variation associated with gene expression changes in specific tissue types. We hypothesized that an integrative analysis combining CKD GWAS and kidney eQTL results can identify candidate genes for CKD. We performed eQTL analysis by correlating genotype with RNA-seq-based gene expression levels in 96 human kidney samples. Applying stringent statistical criteria, we detected 1,886 genes whose expression differs with the sequence variants. Using direct overlap and Bayesian methods, we identified new potential target genes for CKD. With respect to one of the target genes, lysosomal beta A mannosidase (MANBA), we observed that genetic variants associated with MANBA expression in the kidney showed statistically significant colocalization with variants identified in CKD GWASs, indicating that MANBA is a potential target gene for CKD. The expression of MANBA was significantly lower in kidneys of subjects with risk alleles. Suppressing manba expression in zebrafish resulted in renal tubule defects and pericardial edema, phenotypes typically induced by kidney dysfunction. Our analysis shows that gene-expression changes driven by genetic variation in the kidney can highlight potential new target genes for CKD development.
Indexed as
Identifiers
What OpenQuestion holds
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.