engleski

ACE gene polymorphism in endemic nephropathy patients on chronic hemodialysis

Background and purpose: The aim of the study was to investigate the polymorphism of the angiotensin-converting enzyme (ACE) gene in patients with endemic nephropathy (EN) included in the chronic hemodialysis (HD) program. Material and methods: The study was performed in 73 patients on HD. The diagnosis of EN was established in 28 of them. A 287 bp insertion/deletion polymorphism in intron 16 of the ACE gene was examined by PCR and electrophoresis, whereas serum ACE activity was determined by spectrophotometric method. Results: We did not observed increased frequency of D allele in the entire group of patients on HD. Results showed that the DD genotype was more often present in patients with EN, as compared to other patients on HD (42.8% vs. 26.6% ; p>0.05). The frequency of D allele in EN was 0.64 (p>0.05 vs. 0.50 in control group). Duration of the disease till HD was in EN patients with DD genotype the shortest (p>0.05 vs. ID and II). The values of serum ACE in the entire group of patients on HD did not differ depending on ACE gene polymorphism (p>0.05). However, on analyzing the serum ACE activity in EN patients we observed that these values were higher in patients with DD genotype than in those with II (41.0-9.5 vs. 26.5-6.7 ; p<0.05). In other patients on HD there were no differences in serum ACE regarding ACE genotype. Conclusion: Based on our results we concluded that the frequency of D allele was increased in EN patients which together with increased serum ACE activity in these patients indicated the need for further studies of ACE gene polymorphism in EN. Regardless of the fact whether this polymorphsim is a mediator, a genetic modifier or a marker of kidney disease progression in EN, this could be valuable for better understanding of EN etiopathogenesis and also probably helpful in more sophisticated prevention.

endemic nephropathy; angiotensin-converting enzyme; gene polymorphism; chronic renal failure

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