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Updated: Jan 12, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
The association between single nucleotide polymorphisms in NLRP gene and diabetic nephropathy
Eman A E Badr1, Safwa O Toulan2, Yasser A El Ghobashy3
1Biochemistry Department, Faculty of Science, Menoufia University, Egypt.
Background:
Diabetic nephropathy (DN) is a major cause of chronic kidney disease, influenced by genetic and inflammatory factors. SNPs in NLRP1 and NLRP3 genes, key regulators of inflammation, may contribute to DN susceptibility, offering insights into its pathogenesis and potential therapeutic targets. This study aims to investigate the association between single nucleotide polymorphisms (SNPs) in NLRP1 and NLRP3 genes and the susceptibility to diabetic nephropathy.
Methods:
This cross-sectional study was conducted on 192 subjects, comprising 96 DN patients and 96 healthy controls. Diabetic nephropathy was diagnosed with albumin creatinine ratio in urine. Genotyping of SNPs rs878329 in NLRP1 and rs10754558 in NLRP3 was performed using the TaqMan® Allelic Discrimination assay.
Results:
Significant differences were found in the distribution of both rs878329 and rs10754558 genotypes between cases and controls. The GG genotype of rs878329 and the CG genotype of rs10754558 were significantly more prevalent among DN patients (p=0.002 and p=0.005, respectively). Allelic analysis revealed a higher frequency of the G allele in both SNPs among DN cases (p=0.001 and p=0.002, respectively).
Conclusion:
Our study supports the involvement of NLRP gene polymorphisms in the pathogenesis of DN, potentially offering new insights into genetic predispositions to this condition.
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