ArticleNature communications2018
Molecular insights into genome-wide association studies of chronic kidney disease-defining traits.
Article in Nature communications, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers, 5 of them syntheses that pooled it.
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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
45 citing papers in PubMed, 5 syntheses or guidelines pooled it.
- Multi-population genome-wide association study implicates immune and non-immune factors in pediatric steroid-sensitive nephrotic syndrome.Nature communications · 2023Pooled it
- Systematic review of associations between HLA and renal function.International journal of immunogenetics · 2022Pooled it
- Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals.Nature genetics · 2020Pooled it
- The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis.Nature communications · 2020Pooled it
- Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis.Nature communications · 2019Pooled it
- Complex structural variation, phylogeny, and disease associations of the mucin pangenome.medRxiv : the preprint server for health sciences · 2026Article
- Shorter kidney telomeres are associated with nephrosclerosis by an epigenetic signature.Cardiovascular research · 2026Article
- Article
- Integrative multi-omics profiling for early diagnosis, stratification and personalized management of chronic kidney disease: a new paradigm.Clinical and experimental medicine · 2025Review
- Renal-Cardiac Crosstalk in the Pathogenesis and Progression of Heart Failure.Circulation research · 2025Review
- Mendelian Randomisation: Concepts, Opportunities, Challenges, and Future Directions.Global heart · 2025Review
- Expression and distribution of MUC1 in the developing and adult kidney.American journal of physiology. Renal physiology · 2025Article
- Determination of HLA Tissue Type According to the Etiology of Patients with Chronic Renal Failure.Medeniyet medical journal · 2024Article
- Calciprotein particle counts associate with vascular remodelling in chronic kidney disease.Cardiovascular research · 2024Article
- Single-cell RNA sequencing in diabetic kidney disease: a literature review.Renal failure · 2024Review
- Contribution of ECT2 to Tubulointerstitial Fibrosis in the Progression of Chronic Kidney Disease.Current medical science · 2024Article
- Genetic imputation of kidney transcriptome, proteome and multi-omics illuminates new blood pressure and hypertension targets.Nature communications · 2024Article
- Hypoxia controls expression of kidney-pathogenicLife science alliance · 2023Article
- Review
- Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine.Nature genetics · 2023Article
Corrections and comments
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Authors and funding
25 authors.
Funding
Abstract
Genome-wide association studies (GWAS) have identified >100 loci of chronic kidney disease-defining traits (CKD-dt). Molecular mechanisms underlying these associations remain elusive. Using 280 kidney transcriptomes and 9958 gene expression profiles from 44 non-renal tissues we uncover gene expression partners (eGenes) for 88.9% of CKD-dt GWAS loci. Through epigenomic chromatin segmentation analysis and variant effect prediction we annotate functional consequences to 74% of these loci. Our colocalisation analysis and Mendelian randomisation in >130,000 subjects demonstrate causal effects of three eGenes (NAT8B, CASP9 and MUC1) on estimated glomerular filtration rate. We identify a common alternative splice variant in MUC1 (a gene responsible for rare Mendelian form of kidney disease) and observe increased renal expression of a specific MUC1 mRNA isoform as a plausible molecular mechanism of the GWAS association signal. These data highlight the variants and genes underpinning the associations uncovered in GWAS of CKD-dt.
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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 Socratic graph.