Abstract
The study of Balkan endemic nephropathy (BEN) in the affected localities of southern Serbia shows population-genetic difference between samples of BEN affected individuals and control group consisting of non-affected individuals from the same localities. Detailed population-genetic study in village Chepure, which includes 20 large families where BEN is present in 646 (from first to fourth degree) relatives of probands, shows a familial character of disease as well as significant genetic influences in expression of the illness. Our study of genetic homozygosity degree includes an analysis of the presence, distribution and individual combination of 20 to 30 selected genetically controlled morphophysiological traits in the sample of BEN patients and in the control-healthy group. Assuming that BEN is genetically controlled disease, we made a hypothesis that an increased homozygosity level, as well as the changed variability among the patients, could be populationgenetic parameter for the prediction of the illness. Taking into consideration our experience, as well as the experience of numerous scientists who studied the nature of the inheritance of mono-and oligo-genically controlled qualitative traits, we applied a methodology to estimate the proportion of such homozygously recessive characters (HRC-test). This population-genetic study did not only show statistically significant difference of the mean values of genetic homozygosity (BEN: 8.7 ± 0.3; control: 7.6 ± 0.3), but of the differences in the type of distribution too, as well as the differences in the presence of certain individual combinations of such traits.
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Wedeen, R.P., Environmental Renal Disease: Lead, Cadmium and Balkan Endemic Nephropathy, Kidney Int., 1991, vol. 40, no. 34, pp. S4–S8.
Stefanovic, V., Balkan Endemic Nephropathy: A Need for Novel Aetiological Approaches, Quart J. Med., 1998, vol. 91, pp. 457–463.
Uzelac-Keserovic, B., Spasic, P., Bojanic, N., et al., Isolation of Coronavirus from Kidney Biopsies of Endemic Balkan Nephropathy Patients, Nephron, 1999, vol. 81, pp. 141–145.
Uzelac-Keserovic, B., Vasic, D., Ikonomovski, J., et al., Isolation of Coronavirus from Urinary Tract Tumorous of Endemic Balkan Nephropathy Patients, Nephron, 2000, vol. 86, pp. 93–94.
Voice, T.C., Mc Elmurry, S.P., Long, D.T., et al., Evaluation of Coal Leachate Contamination of Water Supplies as a Hypothesis for the Occurrence of Balkan Endemic Nephropathy in Bulgaria, Facta Universistatis, 2002, vol. 9, pp. 128–129.
Stefanovic, V., Toncheva, D., Atanasova, S., and Polenkovic, M., Etiology of Balkan Endemic Nephropathy and Associated Urothelial Cancer, Am. J. Nephrol., 2006, vol. 26, no. 1, pp. 1–11.
Marinkovic, D., Zivkovic, S., and Milosevic, M., Population-Genetic and Cytogenetic Study of Endemic Nephropathy, Genetika, 1970, vol. 2, no. 2, p. 171.
Tucic, N. and Marinkovic, D., The Inheritance of Liability of Balkan Nephropathy, Genetika, 1979, vol. 11, no. 3, p. 213.
Blagojevic, J., Marinkovic, D., and Radovanovic, Z., Population-Genetic Studies of Endemic (Balkan) Nephropathy in the Surrounding of Loznica, Genetika, 1989, vol. 21, no. 1, pp. 83–94.
Cukuranovic, R., Genetics and Morphophysiological Studying of Balkan Endemic Nephropathy, PhD Thesis, Univ. Nis: Medical Faculty, 1992.
Mitic-Zlatkovic, M., Cukuranovic, R., Lecic, N., and Stefanovic, V., Urinary Creatinine Excretion in Children from Families with Balkan Endemic Nephropathy: Evidence for Genetic Predisposition to the Disease, Pathol. Biol. (Paris), 2000, vol. 48, pp. 554–557.
Toncheva, D., Dimitrov, T., and Tzoneva, M., Cytogenetic Studies in Balkan Endemic Nephropathy, Nephron, 1988, vol. 48, pp. 18–21.
Toncheva, D. and Dimitrov, T., Genetic Predisposition to Balkan Endemic Nephropathy, Nephron, 1996, vol. 72, pp. 564–569.
Toncheva, D., Atanassova, S., Gergov, T., et al., Genetic Changes in Uroepithelial Tumors of Patients with Balkan Endemic Nephropathy, J. Nephrol., 2002, vol. 15, no. 4, pp. 387–393.
Marinkovic, D., Ilic, M., and Spremo, B., Studies of Human Population-Genetic Variation: Comparison of Homozygously Recessive Traits in Attendants of Special and Regular Schools in Serbia, Arh. Biol. Nauka, 1990, vol. 42, nos. 3–4, pp. 11–12.
Marinkovic, D. and Cvjeticanin, S., Studies of Human Population-Genetic Variation: The Frequencies of ABO Blood Types and Homozygously Recessive Traits among Top Sportsmen and Young Intellectuals, Arh. Biol. Nauka, 1991, vol. 43, nos. 1–2, pp. 5–6.
Markovic-Denic, Lj., Marinkovic, D., Jankovic, S., and Radovanovic, Z., Population Genetics Analyses of Chronic Lymphocytic Leukemia, Arh. Biol. Sci., 1992, vol. 44, nos. 1–2, pp. 3–4.
Marinkovic, D., Jovanovic, D., Cvjeticanin, S., et al., Genetic Homozygosity and Normal vs Pathological Human Variation, Genetika, 1994, vol. 36, no. 3, pp. 147–156.
Cvjeticanin, S., Variability of Genetic Homozygosity Degree during Selection for Top Sportsmen, PhD Thesis, Belgrade: Univ. Belgrade, Faculty Biol., 2000.
Pesut, D., Susceptibility to Lung Tuberculosis: A Population Genetic Study, Med. Pregl., 2004, vol. 57, no. 1, pp. 21–24.
Cvjeticanin, S. and Marinkovic, D., Genetic Variability in the Group of Patients with Congenital Hip Dislocation, Russ. J. Genet., 2005, vol. 41, no. 8, pp. 936–940.
Cvjeticanin, S. and Marinkovic, D., Genetic Variability and Frequencies of ABO Blood Types among Different Samples of Patients from Serbia, Korean J. Genetics, 2005, vol. 27, no. 1, pp. 35–40.
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Marinkovic, D., Cvjeticanin, S. Population-genetic study of Balkan endemic nephropathy in Serbia. Russ J Genet 43, 942–946 (2007). https://doi.org/10.1134/S1022795407080170
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DOI: https://doi.org/10.1134/S1022795407080170