Biochemical and Molecular Comparison of UMOD and SERPINA4 SNPs in Kidney Failure Susceptibility and Progression | ||
| Egyptian Journal of Chemistry | ||
| Articles in Press, Accepted Manuscript, Available Online from 28 September 2025 | ||
| Document Type: Original Article | ||
| DOI: 10.21608/ejchem.2025.406565.12084 | ||
| Authors | ||
| Mawada Abou El-Khair1; Basita A. Hussein2; Neama H. Osman2; Amr E. Ahmed3; Yasmin Sayed Hussein* 4; Nahla Mohamed Teama5; Magdy Fouad Tawfik4; Nashwa El- Khazragy6 | ||
| 1Biotechnology Department, Faculty of Agriculture, Cairo University, Cairo, Egypt. | ||
| 2Department of Genetics, Faculty of Agriculture, Cairo University. | ||
| 3Biotechnology and Life Sciences Department, Faculty of Postgraduate Studies for Advanced Sciences, Beni-Suef, Egypt. | ||
| 4Department of Agriculture Biochemistry, faculty of agriculture, Ain shams university. Cairo. Egypt. | ||
| 5Department of internal medicine and nephrology, Ain Shams University Faculty of Medicine. | ||
| 6Department of Clinical Pathology- Hematology, Faculty of Medicine, Ain Shams University, Cairo, Egypt. | ||
| 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. | ||
| Keywords | ||
| UMOD; SERPINA4; Biochemical Analysis; Genetic Analysis; SNP-Driven Pathways and Renal Dysfunction | ||
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