ArticleJournal of the American Society of Nephrology : JASN2019
Exome-Based Rare-Variant Analyses in CKD.
Article in Journal of the American Society of Nephrology : JASN, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.
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Who cites it
38 citing papers in PubMed, 57 citations in OpenAlex.
- Increased risk of kidney failure in patients with genetic kidney disorders.The Journal of clinical investigation · 2024Trial
- Interstitial cystitis: a phenotype and rare variant exome sequencing study.EBioMedicine · 2026Article
- APOL1 kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.Kidney international · 2025Article
- Exome analysis links kidney malformations to developmental disorders and reveals causal genes.Nature communications · 2025Article
- Whole exome sequencing and polygenic risk assessment for kidney functions and clinical management in both hospital-based cohort and population-based Asian cohorts.Journal of biomedical science · 2025Article
- Defining Risk in APOL1-Associated Kidney Disease: The Story is Evolving!American journal of kidney diseases : the official journal of the National Kidney Foundation · 2024Article
- Rare heterozygous variants in paediatric steroid resistant nephrotic syndrome - a population-based analysis of their significance.Scientific reports · 2024Article
- GWAS-based polygenic risk scoring for predicting cerebral artery dissection in the Chinese population.BMC neurology · 2024Article
- AbioRxiv : the preprint server for biology · 2024Article
- AHDC1/Gibbin: a master regular of chromatin structure and gene transcription.Frontiers in neurology · 2024Article
- Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease.Nature communications · 2023Article
- COL4A3 Mutation Induced Podocyte Apoptosis by Dysregulation of NADPH Oxidase 4 and MMP-2.Kidney international reports · 2023Article
- Clinical, histological and molecular characteristics of Alport syndrome in Chinese children.Journal of nephrology · 2023Article
- Identification of potentially pathogenic variants for autism spectrum disorders using gene-burden analysis.PloS one · 2023Article
- Utility of whole genome sequencing in assessing risk and clinically relevant outcomes for pulmonary fibrosis.The European respiratory journal · 2022Observational
- Risk Variants in the Exomes of Children With Critical Illness.JAMA network open · 2022Article
- Genome-wide Enrichment ofAmerican journal of respiratory and critical care medicine · 2022Article
- Impaired fatty acid metabolism perpetuates lipotoxicity along the transition to chronic kidney injury.JCI insight · 2022Article
- Emerging Role of Clinical Genetics in CKD.Kidney medicine · 2022Review
- Genetic abnormalities in biopsy-proven, adult-onset hemolytic uremic syndrome and C3 glomerulopathy.Journal of molecular medicine (Berlin, Germany) · 2022Article
Corrections and comments
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Authors and funding
21 authors at 5 institutions in 3 countries.
Funding
Abstract
backgroundStudies have identified many common genetic associations that influence renal function and all-cause CKD, but these explain only a small fraction of variance in these traits. The contribution of rare variants has not been systematically examined.
methodsWe performed exome sequencing of 3150 individuals, who collectively encompassed diverse CKD subtypes, and 9563 controls. To detect causal genes and evaluate the contribution of rare variants we used collapsing analysis, in which we compared the proportion of cases and controls carrying rare variants per gene.
resultsThe analyses captured five established monogenic causes of CKD: variants in
conclusionsThis study demonstrates that rare-variant collapsing analyses can validate known genes and identify candidate genes and modifiers for kidney disease. In so doing, these findings provide a motivation for larger-scale investigation of rare-variant risk contributions across major clinical CKD categories.
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