Biochemical and Molecular Comparison of UMOD and SERPINA4 SNPs in Kidney Failure Susceptibility and Progression

This study investigated the clinical, biochemical, and genetic characteristics of renal failure patients compared to healthy controls , focusing on the polymorphisms of UMOD (rs12917707) and SERPINA4 (rs2093266) genes. The cohort consisted of 50 renal failure patients (66% males, 34% females) and 50 healthy controls (60% males, 40% females), with mean ages of 48.5 ± 2.12 and 27.7 ± 1.39 years, respectively. Among renal failure patients, diabetes mellitus and hypertension were present in 32% and 64%, respectively. Significant elevations were observed in serum blood creatinine, blood urea, and blood urea nitrogen (BUN) levels in patients compared to controls (P < 0.001), accompanied by a marked reduction in estimated glomerular filtration rate (eGFR) and hemoglobin concentration Level (P < 0.001). Genotypic analysis revealed that the UMOD (rs12917707) polymorphism displayed a significant difference in distribution between patients and controls, with the C allele associated with increased risk of renal failure (OR = 0.32; P = 0.006). Similarly, SERPINA4( rs2093266 ) showed a significant genotypic difference, where the A allele was linked to susceptibility (OR = 0.29; P = 0.005). However, no significant differences in genotype frequencies were observed between chronic and acute renal failure subgroups for either polymorphism. These findings suggest that UMOD (rs12917707 )and SERPINA4 ( rs2093266 ) polymorphisms are important genetic factors contributing to renal failure susceptibility, with UMOD variants exhibiting a relatively stronger influence on disease development. Further studies are warranted to explore their combined effect on renal pathophysiology.

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Journal
Egyptian Journal of Chemistry
Published
2025-09-28
DOI
https://doi.org/10.21608/ejchem.2025.406565.12084
Primary Topic
Dialysis and Renal Disease Management
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article
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article

Biochemical and Molecular Comparison of UMOD and SERPINA4 SNPs in Kidney Failure Susceptibility and Progression

basita abbas hussien, Nahla Mohamed Teama, Neama H. Osman, Nashwa Nagy El-Khazragy et al.
Egyptian Journal of Chemistry
Dialysis and Renal Disease Management
article

Biochemical and Molecular Comparison of UMOD and SERPINA4 SNPs in Kidney Failure Susceptibility and Progression

basita abbas hussien, Nahla Mohamed Teama, Neama H. Osman, Nashwa Nagy El-Khazragy, Mawada Abou El-Khair, Magdy Fouad Tawfik, yasmin sayed hussein, Aesar A. Ahmed
article en

Abstract

This study investigated the clinical, biochemical, and genetic characteristics of renal failure patients compared to healthy controls , focusing on the polymorphisms of UMOD (rs12917707) and SERPINA4 (rs2093266) genes. The cohort consisted of 50 renal failure patients (66% males, 34% females) and 50 healthy controls (60% males, 40% females), with mean ages of 48.5 ± 2.12 and 27.7 ± 1.39 years, respectively. Among renal failure patients, diabetes mellitus and hypertension were present in 32% and 64%, respectively. Significant elevations were observed in serum blood creatinine, blood urea, and blood urea nitrogen (BUN) levels in patients compared to controls (P < 0.001), accompanied by a marked reduction in estimated glomerular filtration rate (eGFR) and hemoglobin concentration Level (P < 0.001). Genotypic analysis revealed that the UMOD (rs12917707) polymorphism displayed a significant difference in distribution between patients and controls, with the C allele associated with increased risk of renal failure (OR = 0.32; P = 0.006). Similarly, SERPINA4( rs2093266 ) showed a significant genotypic difference, where the A allele was linked to susceptibility (OR = 0.29; P = 0.005). However, no significant differences in genotype frequencies were observed between chronic and acute renal failure subgroups for either polymorphism. These findings suggest that UMOD (rs12917707 )and SERPINA4 ( rs2093266 ) polymorphisms are important genetic factors contributing to renal failure susceptibility, with UMOD variants exhibiting a relatively stronger influence on disease development. Further studies are warranted to explore their combined effect on renal pathophysiology.

Egyptian Journal of ChemistryVol. 0(0)
Cairo University (EG)
Openalex Percentile: Top 72%
Dialysis and Renal Disease Management
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Biochemical and Molecular Comparison of UMOD and SERPINA4 SNPs in Kidney Failure Susceptibility and Progression — basita abbas hussien, Nahla Mohamed Teama, et al. · Egyptian Journal of Chemistry (2025) | TGRS Research Map | TGRS