Genetic clues to the etiology of Balkan endemic nephropathy: Investigating the role of ACE and AT1R polymorphisms

Balkan endemic nephropathy (BEN) was recognized as a distinct entity more than 50 years ago, but the exact environmental and genetic causes of the disease remain elusive. Considering the role of the renin-angiotensin system (RAS) in the emergence of various nephropathies, in the present study we evaluated the possible association with BEN of polymorphisms in two RAS genes: I/D ACE (an angiotensin-converting enzyme) and A1166C AT1R (an angiotensin type 1 receptor). The study groups consisted of 48 BEN patients from the endemic region in the district of Kolubara, Serbia, 33 patients with other nephropathies and 42 healthy individuals. The ACE DD genotype was significantly more represented in the NBEN group (OR=5.447; 95%CI=1.862-15.932, p<0.01). The frequency of the AT1R CC genotype was higher in BEN patients compared to controls (0.104 vs. 0.048), but the difference was not significant. Though the analyzed polymorphisms are associated with certain nephropathies, we found no support for their specific role in BEN susceptibility.