Epidemiology of Hereditary Diseases in the Karachay-Cherkess Republic

Autor: Alexander V. Polyakov, Amin Kh. Makaov, V. V. Kadyshev, Rena A. Zinchenko, N. E. Petrina, Nika V. Petrova, G. I. El’chinova, Elena L. Dadali, Eugeny K. Ginter, Polina Gundorova, Tatyana A. Vasilyeva, Andrey V. Marakhonov, L. K. Mikhailova, Oksana Y. Alexandrova, Sergey I. Kutsev, V. A. Galkina
Jazyk: angličtina
Rok vydání: 2020
Předmět:
0301 basic medicine
Male
medicine.medical_specialty
genetic epidemiology
Population
Genes
Recessive
Biology
Catalysis
Article
Russia
lcsh:Chemistry
Inorganic Chemistry
03 medical and health sciences
0302 clinical medicine
Genetic drift
Epidemiology
medicine
Humans
Inbreeding
Genetic Testing
Physical and Theoretical Chemistry
education
lcsh:QH301-705.5
Molecular Biology
Karachay-Cherkess Republic
Spectroscopy
diversity of hereditary diseases
education.field_of_study
Genetic heterogeneity
Organic Chemistry
Genetic Drift
Genetic Diseases
Inborn
genetic load
Genetic Variation
General Medicine
Computer Science Applications
Genetic load
030104 developmental biology
Genetics
Population
lcsh:Biology (General)
lcsh:QD1-999
Genetic epidemiology
030220 oncology & carcinogenesis
Hereditary Diseases
Allelic heterogeneity
Female
Demography
Zdroj: International Journal of Molecular Sciences
Volume 21
Issue 1
International Journal of Molecular Sciences, Vol 21, Iss 1, p 325 (2020)
ISSN: 1422-0067
DOI: 10.3390/ijms21010325
Popis: Prevalence and allelic heterogeneity of hereditary diseases (HDs) could vary significantly in different human populations. Current knowledge of HDs distribution in populations is generally limited to either European data or analyses of isolated populations which were performed several decades ago. Thus, an acknowledgement of the HDs prevalence in different modern open populations is important. The study presents the results of a genetic epidemiological study of hereditary diseases (HDs) in the population of the Karachay-Cherkess Republic (KChR). Clinical screening of a population of 410,367 people for the identification of HDs was conducted. The population surveyed is represented by five major ethnic groups&mdash
Karachays, Russians, Circassians, Abazins, Nogais. The study of the populations was carried out in accordance with the proprietary protocol of genetic epidemiological examination designed to identify >
3500 HDs easily diagnosed during clinical examination by qualified specialists specializing in the HDs. The protocol consists of the population genetic and medical genetic sections and is intended for comprehensive population analysis based on the data on different genetic systems, including the genes of HDs, DNA polymorphisms, demographic data collected during hospital-based survey. 8950 families (with 10,125 patients) with presumably the HDs were initially identified as a result of the survey and data collection through various sources of registration (from 1156 medical workers from 163 medical institutions). A diagnosis of hereditary pathology was established in 1849 patients (from 1295 families). Two hundred and thirty nosological forms were revealed (in 1857 patients from 1295 families). The total prevalence of HDs was 1:221. Differences between populations and ethnic groups were identified: 1:350 in Russians, 1:195 in Karachays, 1:199 in Circassians, 1:218 in Abazins, 1:135 in Nogais. Frequent diseases were determined, the presence of marked genetic heterogeneity was identified during the confirmatory DNA diagnosis. To explain the reasons for the differentiation of populations by load of HD, a correlation analysis was carried out between the FST (random inbreeding) in populations and HDs load values. This analysis showed genetic drift is probably one of the leading factors determining the differentiation of KChR populations by HDs load. For the first time, the size of the load and spectrum of HDs in the populations of the KChR are determined. We have demonstrated genetic drift to be one of the main factors of the population dynamics in studied population. A significant genetic heterogeneity of HDs, both allelic and locus, was revealed in KChR.
Databáze: OpenAIRE
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