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Apolipoprotein E epsilon 4 allele and nephrotic glomerular diseases in children
T Asami1, T Ciomartan, H Hayakawa
1Department of Pediatrics, School of Medicine, Niigata University, Japan. asamitds@med.niigata-u.ac.jp
Insights
Children with nephrotic glomerular diseases (NGD) show a higher frequency of the apolipoprotein E (apoE) epsilon 4 allele. Focal segmental glomerulosclerosis (FSGS) patients exhibit elevated apoE4/3 phenotypes and epsilon 4 allele frequencies, suggesting a genetic link.
Area of Science:
- Nephrology
- Genetics
- Biochemistry
Background:
- Hyperlipidemia is a known complication of nephrotic syndrome, worsening glomerular injury and glomerulosclerosis.
- Apolipoprotein E (apoE) influences plasma cholesterol; the apoE epsilon 4 allele is linked to higher cholesterol levels.
Purpose of the Study:
- To investigate apolipoprotein E (apoE) phenotypes and alleles in children diagnosed with nephrotic glomerular diseases (NGD).
- To determine if specific apoE variations are associated with NGD, particularly focal segmental glomerulosclerosis (FSGS).
Main Methods:
- Genotyping of apoE phenotypes and alleles in 29 children with NGD (idiopathic nephrotic syndrome, membranoproliferative glomerulonephritis, FSGS).
- Comparison of allele and phenotype frequencies between NGD patients, FSGS patients, and healthy controls.
- Inclusion of IgA nephropathy patients (n=30) as disease controls.
Main Results:
- Children with NGD exhibited a significantly higher frequency of the apoE epsilon 4 allele (20.7%) compared to controls (10.8%).
- Patients with FSGS showed markedly increased apoE4/3 phenotype (66.7%) and epsilon 4 allele (33.3%) frequencies versus controls (20.4% and 10.8%, respectively).
- No significant association between apoE and IgA nephropathy was observed.
Conclusions:
- The apoE epsilon 4 allele may play a role in the development or progression of nephrotic glomerular diseases in children.
- Elevated apoE4/3 phenotype and epsilon 4 allele frequencies in FSGS warrant further investigation into their specific contribution.
- Additional research is necessary to fully elucidate the implications of these apoE findings in pediatric NGD and FSGS.
Abstract:
Hyperlipidemia is a well-recognized complication of the nephrotic syndrome and is a factor contributing to the progression of the initial glomerular injury and the development of glomerulosclerosis. Apolipoprotein E (apoE) is a plasma protein and apoE epsilon 4 allele is associated with higher plasma cholesterol levels. With this in mind, we studied apoE phenotypes and alleles in children with nephrotic glomerular diseases (NGD, n=29), including idiopathic nephrotic syndrome (n=16), membranoproliferative glomerulonephritis (n=7), and focal segmental glomerulosclerosis (FSGS, n=6). Children with NGD had a higher epsilon 4 allele frequency (20.7%) than controls (10.8%), and those with FSGS had both higher apoE4/3 (66.7%) and epsilon 4 allele (33.3%) frequencies than controls (20.4% and 10.8%, respectively). In IgA nephropathy (n=30, disease controls), no significant association with specific apoE was found. Further studies are needed to clarify the significance of the observed high frequencies of apoE epsilon 4 allele in children with NGD and apoE4/3 phenotype distribution in FSGS.