ABSTRACT
Uromodulin (UMOD) gene polymorphism has been linked with end-stage renal disease. In this research, we studied the prevalence of UMOD rs42993393 T>C in Egyptian hemodialysis (HD) patients and the blood level of UMOD in those patients. The study was a case-control study and included 100 patients on regular HD and 100 healthy control subjects. The blood samples from the studied groups were subjected to the determination of UMOD blood level and molecular study of UMOD rs42993393 T>C genotype by polymerase chain reaction with restriction fragment length polymorphism. The serum UMOD level was significantly low in patients (38.6 7.6 ng/mL) compared to control subjects (221.3 ± 54.2, P = 0.0001). On the other hand, the UMOD rs42993393T>C was significantly increased in TC in patients (28%, odds ratio 1.3-1.0-2.0) compared to controls (22%, P = 0.03), and there was a significant increase in CC in patients (10%) compared to control subjects (3%; P = 0.0001). The T allele was significantly increased in controls compared to patients with a significant increase in C allele in patients compared to controls (P = 0.01). The present study highlights the prevalence of UMOD gene polymorphism at rs42993393T>C. There was a significant prevalence of C allele and C genotypes in HD patients. This finding may indicate that this allele may be a predisposing genotype for renal failure in susceptible patients. On the other hand, the significant reduction of serum UMOD in patients with end-stage renal disease may be attributed to the reduced functioning renal mass.