ArticleThe Journal of clinical investigation2016
A role for genetic susceptibility in sporadic focal segmental glomerulosclerosis.
Article in The Journal of clinical investigation, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 33 papers.
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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
33 citing papers in PubMed.
- Glomerular cell atlas of multi-disease model revealed the characteristic changes of glomerular cell subtypes in diseases.Frontiers in immunology · 2026Article
- Serum Factors in Primary Podocytopathies.Antibodies (Basel, Switzerland) · 2025Review
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- Article
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- Mesangial cell-derived CircRNAs in chronic glomerulonephritis: RNA sequencing and bioinformatics analysis.Renal failure · 2024Article
- The Protective Role of KANK1 in Podocyte Injury.International journal of molecular sciences · 2024Article
- High Rate of Mutations of Adhesion Molecules and Extracellular Matrix Glycoproteins in Patients with Adult-Onset Focal and Segmental Glomerulosclerosis.Biomedicines · 2023Article
- Whole-exome sequencing of a multicenter cohort identifies genetic changes associated with clinical phenotypes in pediatric nephrotic syndrome.Genes & diseases · 2022Article
- Causal and putative pathogenic mutations identified in 39% of children with primary steroid-resistant nephrotic syndrome in South Africa.European journal of pediatrics · 2022Article
- UsingFrontiers in cell and developmental biology · 2022Review
- Mechanisms of Scarring in Focal Segmental Glomerulosclerosis.Kidney diseases (Basel, Switzerland) · 2021Review
- Synaptopodin deficiency exacerbates kidney disease in a mouse model of Alport syndrome.American journal of physiology. Renal physiology · 2021Article
- Targeting a Braf/Mapk pathway rescues podocyte lipid peroxidation in CoQ-deficiency kidney disease.The Journal of clinical investigation · 2021Article
- Variations of type IV collagen-encoding genes in patients with histological diagnosis of focal segmental glomerulosclerosis.Pediatric nephrology (Berlin, Germany) · 2020Review
- Charting a TRP to Novel Therapeutic Destinations for Kidney Diseases.Trends in pharmacological sciences · 2019Review
- Mechanisms of Scarring in Focal Segmental Glomerulosclerosis.The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society · 2019Review
- Analysis of the genomic architecture of a complex trait locus in hypertensive rat models linkseLife · 2019Article
- CureGN Study Rationale, Design, and Methods: Establishing a Large Prospective Observational Study of Glomerular Disease.American journal of kidney diseases : the official journal of the National Kidney Foundation · 2019Observational
- Podocyte RhoGTPases: new therapeutic targets for nephrotic syndrome?F1000Research · 2019Review
Corrections and comments
- Commented on by
- Erratum issued
Authors and funding
15 authors.
Funding
Abstract
Focal segmental glomerulosclerosis (FSGS) is a syndrome that involves kidney podocyte dysfunction and causes chronic kidney disease. Multiple factors including chemical toxicity, inflammation, and infection underlie FSGS; however, highly penetrant disease genes have been identified in a small fraction of patients with a family history of FSGS. Variants of apolipoprotein L1 (APOL1) have been linked to FSGS in African Americans with HIV or hypertension, supporting the proposal that genetic factors enhance FSGS susceptibility. Here, we used sequencing to investigate whether genetics plays a role in the majority of FSGS cases that are identified as primary or sporadic FSGS and have no known cause. Given the limited number of biopsy-proven cases with ethnically matched controls, we devised an analytic strategy to identify and rank potential candidate genes and used an animal model for validation. Nine candidate FSGS susceptibility genes were identified in our patient cohort, and three were validated using a high-throughput mouse method that we developed. Specifically, we introduced a podocyte-specific, doxycycline-inducible transactivator into a murine embryonic stem cell line with an FSGS-susceptible genetic background that allows shRNA-mediated targeting of candidate genes in the adult kidney. Our analysis supports a broader role for genetic susceptibility of both sporadic and familial cases of FSGS and provides a tool to rapidly evaluate candidate FSGS-associated genes.
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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.