2658-6533Research Results in Biomedicine2658-653310.18413/2658-6533-2019-5-2-0-21675GeneticsEpidеmiоlоgy оf hеrеditаry skin disеаsеs in thе pоpulаtiоn оf thе Rоstоv regionEpidеmiоlоgy оf hеrеditаry skin disеаsеs in thе pоpulаtiоn оf thе Rоstоv regionAmelinaSvetlana S.AmelinaSvetlana S.DegterevaElena V.DegterevaElena V.ZinchenkoRena A.ZinchenkoRena A.renazinchenko@mаil.ru20195200

Background: Hereditary skin diseases (HSD) – a group of diseases, mediated by mutations in the genes, responsible for the formation and function of the skin. Literature data on the spread of HSD in different regions showed that the prevalence of HSD varies in wide ranges and is hardly comparable to each other. The use of the genetic and epidemiological method for assessing the burden and nosological spectrum of the HSD in population in the Rostov region is important. The aim of the study: To determine the values of the burden and the nosological spectrum of HSD in population in 12 districts of the Rostov region. Materials and methods: A complex genetic and epidemiological survey of the population was conducted. Molecular genetic study – for calculating the frequency of 2282dеl4 mutation in the FLG gene in patients with viral ichthyosis. Results: The analysis of the results obtained showed that the values ​​of the total burden of HSD in the "rural" population are twice as high as those of the "urban" population: 7.87±0.51 (1:1270) and 2.78±0.37 (1:3595) respectively. The values ​​of the HSD burden in the population of the Rostov region were: with the autosomal dominant (AD) type of inheritance – 5.15±0.32 (1:1943), autosomal recessive (AP) – 0.28±0.08 (1:35533), X-linked – 0.84±0.18 (1:23689), and the average – 5.85±0.34 (1:1709). Correlation analysis revealed a significant role of genetic subdivision and genetic drift on the formation of prevalence indicators of HSD in the population of the Rostov region. A variety of HSD is provided due to 20 nosological forms, including 13 with AD type of inheritance, 5 with AR type of inheritance, and 2 with X-linked inheritance. The "nucleus" of the nosological spectrum of HSD of the population in the Rostov region is formed by 7 diseases, including 5 with autosomal dominant type of inheritance – vinyar ichthyosis (1:5025), neurofibromatosis, type I (1:8577), palmar-plantar keratodermia (1:13818), multiple lipomatosis (1:31091) and tiberic sclerosis (1:33164), and 2 with X-linked inheritance – X-linked ichthyosis (1:15546), ectodermal dysplasia, and an anhydrite form (1:49746). Conclusion: Thus, in this work, the values of the burden and the nosological spectrum of HSD in the population of the Rostov region were determined, the differences in the values of the HSD burden of "rural" and "urban" populations were determined by the influence of the genetic drift and the subdivision of the syposypes.

Background: Hereditary skin diseases (HSD) – a group of diseases, mediated by mutations in the genes, responsible for the formation and function of the skin. Literature data on the spread of HSD in different regions showed that the prevalence of HSD varies in wide ranges and is hardly comparable to each other. The use of the genetic and epidemiological method for assessing the burden and nosological spectrum of the HSD in population in the Rostov region is important. The aim of the study: To determine the values of the burden and the nosological spectrum of HSD in population in 12 districts of the Rostov region. Materials and methods: A complex genetic and epidemiological survey of the population was conducted. Molecular genetic study – for calculating the frequency of 2282dеl4 mutation in the FLG gene in patients with viral ichthyosis. Results: The analysis of the results obtained showed that the values ​​of the total burden of HSD in the "rural" population are twice as high as those of the "urban" population: 7.87±0.51 (1:1270) and 2.78±0.37 (1:3595) respectively. The values ​​of the HSD burden in the population of the Rostov region were: with the autosomal dominant (AD) type of inheritance – 5.15±0.32 (1:1943), autosomal recessive (AP) – 0.28±0.08 (1:35533), X-linked – 0.84±0.18 (1:23689), and the average – 5.85±0.34 (1:1709). Correlation analysis revealed a significant role of genetic subdivision and genetic drift on the formation of prevalence indicators of HSD in the population of the Rostov region. A variety of HSD is provided due to 20 nosological forms, including 13 with AD type of inheritance, 5 with AR type of inheritance, and 2 with X-linked inheritance. The "nucleus" of the nosological spectrum of HSD of the population in the Rostov region is formed by 7 diseases, including 5 with autosomal dominant type of inheritance – vinyar ichthyosis (1:5025), neurofibromatosis, type I (1:8577), palmar-plantar keratodermia (1:13818), multiple lipomatosis (1:31091) and tiberic sclerosis (1:33164), and 2 with X-linked inheritance – X-linked ichthyosis (1:15546), ectodermal dysplasia, and an anhydrite form (1:49746). Conclusion: Thus, in this work, the values of the burden and the nosological spectrum of HSD in the population of the Rostov region were determined, the differences in the values of the HSD burden of "rural" and "urban" populations were determined by the influence of the genetic drift and the subdivision of the syposypes.

hеrеditаry skin disеаsеsеpidеmiоlоgyprеvаlеncе rаtеhеrеditаry skin disеаsеsеpidеmiоlоgyprеvаlеncе rаtе

The work was supported by the Russian Foundation for Basic Research, project No. 18-015-00090, and as part of the state task of the Federal Agency for Scientific Organizations of Russia

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