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The association between single nucleotide polymorphisms in NLRP gene and diabetic nephropathy.

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Title: The association between single nucleotide polymorphisms in NLRP gene and diabetic nephropathy.
Alternate Title: Asociación entre los polimorfismos de nucleótido único en el gen NLRP y la nefropatía diabética.
Authors: Badr, Eman A. E.1, Toulan, Safwa O.2 Safwa.osman@med.menofia.edu.eg, El Ghobashy, Yasser A.3, Nofal, Ahmed Mostafa4, Assar, Mohamed F. A.1
Source: Nefrologia. Oct2025, Vol. 45 Issue 8, p1-9. 9p.
Subjects: DIABETIC nephropathies, SINGLE nucleotide polymorphisms, NLRP3 protein, GENOTYPES, DISEASE susceptibility, HEREDITY, CHRONIC kidney failure, INFLAMMATION
Abstract (English): 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. [ABSTRACT FROM AUTHOR]
Abstract (Spanish): Antecedentes: La nefropatía diabética (ND) es una causa mayor de enfermedad renal crónica, en la que influyen factores genéticos e inflamatorios. Los polimorfismos de nucleótido único (SNP) en los genes NLRP1 y NLRP3, reguladores clave de la inflamación, pueden contribuir a la susceptibilidad a la ND, ofreciendo una perspectiva sobre su patogenia y los objetivos terapéuticos potenciales. El objetivo de este estudio es investigar la asociación entre los SNP en los genes NLRP1 y NLRP3 y la susceptibilidad a la nefropatía diabética. Métodos: Este estudio transversal se llevó a cabo en 192 sujetos, e incluía 96 pacientes de ND y 96 controles sanos. La nefropatía diabética fue diagnosticada mediante el ratio albúmina:creatinina en orina. La genotipificación del SNP rs878329 en NLRP1 y rs10754558 en NLRP3 se realizó utilizando el ensayo TaqMan® Allelic Discrimination. Resultados: Se encontraron diferencias significativas en la distribución de los genotipos rs878329 у rs10754558 entre los casos y los controles. El genotipo GG de rs878329 y el genotipo CG de rs10754558 fueron significativamente más prevalentes entre los pacientes de ND (p=0,002 y p=0,005, respectivamente). El análisis alélico reveló una frecuencia más elevada del alelo G en ambos SNP entre los casos de ND (p = 0,001 y p=0,002, respectivamente). Conclusión: Nuestro estudio respalda la implicación de los polimorfismos del gen NLRP en la patógena de la ND, ofreciendo potencialmente nuevas perspectivas a las predisposiciones genéticas a esta condición. [ABSTRACT FROM AUTHOR]
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Database: MedicLatina
Description
Abstract: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. [ABSTRACT FROM AUTHOR]
ISSN:02116995
DOI:10.1016/j.nefro.2025.501339