Fedota O. Genodermatosis in the study of the problems of human genetic safety

At the first time in Ukraine genetic analysis of dermatoses on population, familial and individual levels had been carried out. We have obtained information about the population distribution of the most common dermatoses with large hereditary component - psoriasis and atopic dermatitis. There has been calculated incidence, population frequencies, their dependence on the age and gender. Genetic and demographic characteristics of rural and urban populations are presented and their dynamics over the past twelve years has been analyzed. The level of inbreeding and other genetic and demographic parameters in eight districts of the Kharkiv region have been estimated. The parameters of monogenic hereditary pathology and inbreeding coefficients have been compared. The coefficients of correlation between the prevalence of genodermatosis and the inbreeding coefficient have been calculated. The correlation between genetic characteristics of genodermatosis and parameters of the infrastructure in the region has been determined. The effect of anticipation for psoriasis has been detected. Regression equations for individual genetic prediction have been obtained. The structure of the investigated population by the genes MTHFR and VDR3 has been determined. The association of blood groups AB0 and Rh systems with psoriasis and with polymorphic variants of the gene VDR3 in probands has been detected. There has been found that the polymorphisms and their combinations of genes MTHFR, p53, F2, F5 are associated with various forms of psoriasis. There have been identified the genes, that are predisposing to the development of common ichthyosis in the studied population. Cytogenetic characteristics of probands and their relatives with various forms of ichthyosis and bullous epidermolysis have been obtained. The association of cytogenetic characteristics and polymorphisms by the genes FLG and MTHFR in patients with ichthyosis has been determined. Various algorithms for the evaluation of genetic risk of various forms of genodermatosis have been proposed.