Population-genetic study of Balkan endemic nephropathy in Serbia

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.

Morphogenetic Variability as Potential Biomarker of Neurogenic Lesion Degree in Children with Spina Bifida

“…There are several possible explanations for the established differences in recessive homozygosity degree among different groups of affected individuals and the control [12,13,15,29,31]:…”

Morphogenetic variability and genetic loads among patients with different expression of developmental hip dysplasia

“…The genes which control the qualitative characteristics studied here are markers not only of different chromosomes but also of surrounding groups of polygenes which may have direct impact on the predisposition for DDH expression (CVJETICANIN and MARINKOVIC, 2005a; CVJETICANIN and MARINKOVIC, 2005b; MARINKOVIC and CVJETICANIN, 2013). The genes that determine expression of tested traits may influence to a certain degree the addaptive value of the organism, and thus provide certain advantages or disadvantage in specific enviromental conditions (CVJETICANIN and MARINKOVIC, 2005a;CVJETICANIN and MARINKOVIC, 2005b;CVJETICANIN and MARINKOVIC, 2009;MARINKOVIC and CVJETICANIN, 2007;MARINKOVIC et al, 2008;MARINKOVIC et al, 2013;NIKOLIC et al, 2010).…”

“…comparison between ill and healthy individuals, pupils from special and regular schools, carriers of different blood types etc.) (BLAGOJEVIC et al, 1989;CVJETICANIN and MARINKOVIC, 2005a;CVJETICANIN and MARINKOVIC, 2009;MARINKOVIC et al, 1990;MARINKOVIC et al, 1994;MARINKOVIC et al, 2007;MARINKOVIC et al, 2008;MARKOVIC-DENIC et al, 1992;NIKOLIC et al, 2010;PETRICEVIC and CVJETICANIN, 2011).…”

Genetic and Environmental Dispositions for Cardiovascular Variability: A Pilot Study

“…The use of homozigously-recessive characteristics (HRC) test, used to determine genetic homozygosity in humans over 30 years, has shown that the group of individuals with different conditions have higher genetic homozygosity and lower variability for tested genes compared to the healthy control groups [ 8 , 9 , 10 , 11 ].…”