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

Abou El-Khair, Mawada; Hussein, Basita A.; Osman, Neama H.; Ahmed, Amr E.; Hussein, Yasmin Sayed; Teama, Nahla Mohamed; Tawfik, Magdy Fouad; El- Khazragy, Nashwa

doi:10.21608/ejchem.2025.406565.12084

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

Articles in Press

Document Type : Original Article

Authors

¹ Chemical Specialist in Lebanon Hospital, Cairo, Egypt.

² Department of Genetics, Faculty of Agriculture, Cairo University.

³ Biotechnology and Life Sciences Department, Faculty of Postgraduate Studies for Advanced Sciences, Beni-Suef, Egypt.

⁴ Department of Agriculture Biochemistry, faculty of agriculture, Ain shams university. Cairo. Egypt.

⁵ Department of internal medicine and nephrology, Ain Shams University Faculty of Medicine.

⁶ Department of Clinical Pathology- Hematology, Faculty of Medicine, Ain Shams University, Cairo, Egypt.

10.21608/ejchem.2025.406565.12084

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.

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