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Association of PLCE1 (rs7922612) and COL4A3 (rs375290088) Genetic Variants with the Risk of Nephrotic Syndrome in

Wafaa A Mokhtar1, Afaf M Elsaid2, Ahmed M Elrefaey3

  • 1Division of Biochemistry, Department of Chemistry, Faculty of Science, University of Mansoura, Mansoura, Egypt. wafaamokhtar666@gmail.com.

Biochemical Genetics
|July 19, 2024
PubMed

Insights

The Phospholipase C epsilon 1 (rs7922612) gene variant is a significant risk factor for nephrotic syndrome in Egyptian children. Collagen type IV alpha 3 (rs375290088) gene variant showed no correlation with the disease in this population.

Area of Science:

  • Pediatric Nephrology
  • Human Genetics
  • Molecular Biology

Background:

  • Nephrotic syndrome (NS) is a common pediatric kidney disease.
  • Steroid-resistant NS (SRNS) is a major cause of pediatric renal failure.
  • Genetic factors may influence NS susceptibility.

Purpose of the Study:

  • To investigate the association of PLCE1 (rs7922612) and COL4A3 (rs375290088) SNPs with NS in Egyptian children.
  • To determine if these SNPs are risk factors for developing NS.
  • To explore the role of these SNPs in steroid-sensitive (SSNS) versus SRNS.

Main Methods:

  • Case-control study involving 100 Egyptian children with NS and 100 healthy controls.
  • Genotyping of PLCE1 (rs7922612) and COL4A3 (rs375290088) using polymerase chain reaction.
  • Statistical analysis of genotype and allele frequencies using genetic models.

Main Results:

  • Significantly higher frequencies of variant genotypes and alleles for PLCE1 (rs7922612) in NS patients compared to controls (P < 0.001).
  • PLCE1 (rs7922612) demonstrated an elevated risk for NS across dominant, recessive, and allelic models (ORs ranging from 1.62 to 9.12).
  • No significant association was found for COL4A3 (rs375290088) with NS or its subtypes (SSNS vs. SRNS).

Conclusions:

  • PLCE1 (rs7922612) is an independent genetic risk factor for nephrotic syndrome in Egyptian children.
  • COL4A3 (rs375290088) polymorphism is not associated with nephrotic syndrome in this cohort.
  • Further research is needed to elucidate the specific mechanisms linking PLCE1 to pediatric NS.

Keywords:
Collagen type 4 alpha 3 (COL4A3)Nephrotic syndrome (NS)Phospholipase C epsilon 1 (PLCE1)Single nucleotide polymorphism (SNP)Steroid-dependant nephrotic syndrome (SDNS)Steroid-resistant nephrotic syndrome (SRNS)

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