ArticleDiabetologia2019
A novel rare CUBN variant and three additional genes identified in Europeans with and without diabetes: results from an exome-wide association study of albuminuria.
Article in Diabetologia, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 30 citations in OpenAlex.
- Differential and shared genetic effects on kidney function between diabetic and non-diabetic individuals.Communications biology · 2022Pooled it
- Genetic variants for prediction of gestational diabetes mellitus and modulation of susceptibility by a nutritional intervention based on a Mediterranean diet.Frontiers in endocrinology · 2022Trial
- Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function.The Journal of clinical investigation · 2020Trial
- Mapping shared genetic determinants of eGFR and albuminuria with a focus on type 2 diabetes: a large-scale European study.BMJ open diabetes research & care · 2026Observational
- Tubular proteinuria due to hereditary endocytic receptor disorder of the proximal tubule: Dent disease and chronic benign proteinuria.Pediatric nephrology (Berlin, Germany) · 2025Review
- Identification of novel pathogenic variants of CUBN in patients with isolated proteinuria.Molecular genetics & genomic medicine · 2024Article
- New findings on the genetic basis of feathered legs in chickens: association of CUBN gene mutations with feathered-leg phenotype.Journal of animal science · 2024Article
- Four missense genetic variants inFrontiers in endocrinology · 2023Article
- Genetic and epigenetic background of diabetic kidney disease.Frontiers in endocrinology · 2023Review
- Vitamin D pathway gene variation rs3740165 is associated with serological uric acid levels in healthy Chinese women.Frontiers in endocrinology · 2022Article
- Endocytic adaptation to functional demand by the kidney proximal tubule.The Journal of physiology · 2021Article
- Genome-wide association study of circulating interleukin 6 levels identifies novel loci.Human molecular genetics · 2021Article
- Targeted Next-Generation Sequencing Identifies Pathogenic Variants in Diabetic Kidney Disease.American journal of nephrology · 2021Article
- Genetics of diabetes mellitus and diabetes complications.Nature reviews. Nephrology · 2020Review
- Article
- Variants inAmerican journal of cancer research · 2020Article
- A genome-wide association study implicates multiple mechanisms influencing raised urinary albumin-creatinine ratio.Human molecular genetics · 2019Article
- Article
- Editorial: Novel Biomarkers for Type 2 Diabetes.Frontiers in endocrinology · 2019Article
- Editorial: The Role of Genetic and Lifestyle Factors in Metabolic Diseases.Frontiers in endocrinology · 2019Article
Corrections and comments
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Authors and funding
29 authors at 9 institutions in 6 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aims/hypothesisIdentifying rare coding variants associated with albuminuria may open new avenues for preventing chronic kidney disease and end-stage renal disease, which are highly prevalent in individuals with diabetes. Efforts to identify genetic susceptibility variants for albuminuria have so far been limited, with the majority of studies focusing on common variants.
methodsWe performed an exome-wide association study to identify coding variants in a two-stage (discovery and replication) approach. Data from 33,985 individuals of European ancestry (15,872 with and 18,113 without diabetes) and 2605 Greenlanders were included.
resultsWe identified a rare (minor allele frequency [MAF]: 0.8%) missense (A1690V) variant in CUBN (rs141640975, β = 0.27, p = 1.3 × 10 CONCLUSIONS/
interpretationThe current study identifies a rare coding variant in the CUBN locus and other potential genes associated with albuminuria in individuals with and without diabetes. These genes have been implicated in renal and cardiovascular dysfunction. The findings provide new insights into the genetic architecture of albuminuria and highlight target genes and pathways for the prevention of diabetes-related kidney disease.
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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 Socratic graph.