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First Study Of 3q Microsatellite Loci in Bulgarian Patients with Balkan Endemic Nephropathy (BEN)

ABSTRACT Background: Balkan endemic nephropathy (BEN) is a chronic tubulointerstitial kidney disease characterized by development of urinary tract tumours in about 38–40% of BEN patients. The etiology of the disease has not been fully understood yet. A hypothesis for genetic predisposition to BEN has been accepted. The aim of the study was to investigate polymorphic SSR (simple sequence repeat) markers located at 3q candidate region for BEN and to compare the obtained allele frequencies in BEN patients and healthy persons. Methods: 55 BEN patients and 55 controls were genotyped for ACPP (at chromosome region 3q22.1–3q23), and 54 patients and 53 controls for D3S1509 (3q26.1), D3S1282 (3q26.2), D3S1212 (3q26.2) loci by PCR-PAGE. Results: Significant differences in the frequencies of alleles, respectively C4 (144bp) in ACPP locus (X2=5.867; p-0.015), a2 (184bp) in D3S1509 (X2=3.873; p=0.049), A6 (148bp) (X2=4,592; p=0.032) and A8 (152bp) in D3S1282 (X2=4,001; p-0.045) between both studied groups were observed. Alleles C4 (ACPP), A6 (D3S1282) and A8 (D3S1282) could be assumed to be positively associated with BEN. Conclusions: The results support our previous cytogenetic data on the significance of 3q24-3q26.3 for BEN and extent the regions with the involvement of 3q22-3q23 bands. The data from the present study provide a good basis for more detailed molecular genetic analysis of this chromosome region.