ArticleClinical journal of the American Society of Nephrology : CJASN2014
Coding variants in nephrin (NPHS1) and susceptibility to nephropathy in African Americans.
Article in Clinical journal of the American Society of Nephrology : CJASN, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.
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Who cites it
10 citing papers in PubMed, 1 synthesis or guideline pooled it, 18 citations in OpenAlex.
- Association of kidney structure-related gene variants with type 2 diabetes-attributed end-stage kidney disease in African Americans.Human genetics · 2016Pooled it
- Prevalence of kidney health genetic variants in adults with sickle cell nephropathy.British journal of haematology · 2024Article
- Integrated bioinformatics analysis reveals novel key biomarkers in diabetic nephropathy.SAGE open medicine · 2022Article
- Characterization of Hepatitis B Virus Integrations Identified in Hepatocellular Carcinoma Genomes.Viruses · 2021Article
- Advances in our understanding of genetic kidney disease using kidney organoids.Pediatric nephrology (Berlin, Germany) · 2020Review
- Genetics and ESKD Disparities in African Americans.American journal of kidney diseases : the official journal of the National Kidney Foundation · 2019Review
- An Exome-wide Association Study for Type 2 Diabetes-Attributed End-Stage Kidney Disease in African Americans.Kidney international reports · 2018Article
- Proteinuric Kidney Diseases: A Podocyte's Slit Diaphragm and Cytoskeleton Approach.Frontiers in medicine · 2018Review
- The genetics of diabetic complications.Nature reviews. Nephrology · 2015Review
- Lack of association between Kidd blood group system and chronic kidney disease.Revista brasileira de hematologia e hemoterapiaArticle
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Authors and funding
10 authors at 4 institutions in 2 countries.
Funding
Abstract
BACKGROUND AND
objectivesPresumed genetic risk for diabetic and nondiabetic end stage renal disease is strong in African Americans. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: Exome sequencing data from African Americans with type 2 diabetic end stage renal disease and nondiabetic, non-nephropathy controls in the T2D-GENES study (Discovery, n=529 patients and n=535 controls) were evaluated, focusing on missense variants in NPHS1. Associated variants were then evaluated in independent type 2 diabetic end stage renal disease (Replication, n=1305 patients and n=760 controls), nondiabetic end stage renal disease (n=1705), and type 2 diabetes-only, non-nephropathy samples (n=503). All participants were recruited from dialysis facilities and internal medicine clinics across the southeastern United States from 1991 to present. Additional NPHS1 missense variants were identified from exome sequencing resources, genotyped, and sequence kernel association testing was then performed.
resultsInitial analysis identified rs35238405 (T233A; minor allele frequency=0.0096) as associated with type 2 diabetic end stage renal disease (adjustment for admixture P=0.042; adjustment for admixture+APOL1 P=0.080; odds ratio, 2.89 and 2.36, respectively); with replication in independent type 2 diabetic end stage renal disease samples (P=0.018; odds ratio, 4.30) and nondiabetic end stage renal disease samples (P=0.016; odds ratio, 4.48). In a combined analysis (all patients with end stage renal disease versus all controls), T233A was associated with all-cause end stage renal disease (P=0.0038; odds ratio, 2.82; n=3270 patients and n=1187 controls). A P-value of <0.001 was obtained after adjustment for admixture and APOL1 in sequence kernel association testing. Two additional variants (H800R and Y1174H) were nominally associated with protection from end stage renal disease (P=0.036; odds ratio, 0.44; P=0.0084; odds ratio, 0.040, respectively) in the locus-wide single-variant association tests.
conclusionsCoding variants in NPHS1 are associated with both risk for and protection from common forms of nephropathy in African Americans.
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