Analysis of the Age and Sex Structure of the Population of Karachay-Cherkessia Republic

Ельчинова, Г. И.; Makaov, A. Kh.; Bikanov, R.A.; Gavrilina, S. G.; Petrin, A. N.; Marakhonov, Andrey V.; Зинченко, Р. А.

doi:10.17513/spno.26241

Cited by 2 publications

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“…Moreover, the proportion of child patients (of pre-productive age) varied from 38 to 51% in different surveyed populations (Zinchenko et al, 2019(Zinchenko et al, , 2020a. The proportion of patients in the reproductive age (18-45 years) out of the total number of patients with RHDs was 37.2% (from 31.91 to 40% by population); for the post-reproductive age (46 and older), only 17.5% (variation 17-22%) out of all patients (Elchinova et al, 2017). Analysis of the sample showed that some diseases do not occur in older age groups because they have high mortality in childhood and middle age (the rate is not constant and varies depending on the population, the causing gene, and the mutation).…”

Section: Discussionmentioning

confidence: 98%

Epidemiology of Rare Hereditary Diseases in the European Part of Russia: Point and Cumulative Prevalence

Зинченко

Marakhonov

et al. 2021

Front. Genet.

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The issue of point prevalence, cumulative prevalence (CP), and burden of rare hereditary diseases (RHD), comprising 72–80% of the group of rare diseases, is discussed in many reports and is an urgent problem, which is associated with the rapid progress of genetic technology, the identification of thousands of genes, and the resulting problems in society. This work provides an epidemiological analysis of the groups of the most common RHDs (autosomal dominant, autosomal recessive, and X-linked) and their point prevalence (PP) and describes the structure of RHD diversity by medical areas in 14 spatially remote populations of the European part of Russia. The total size of the examined population is about 4 million. A total of 554 clinical forms of RHDs in 10,265 patients were diagnosed. The CP for all RHDs per sample examined was 277.21/100,000 (1:361 people). It is worth noting that now is the time for characterizing the accumulated data on the point prevalence of RHDs, which will help to systematize our knowledge and allow us to develop a strategy of care for patients with RHDs. However, it is necessary to address the issues of changing current medical classifications and coding systems for nosological forms of RHDs, which have not kept pace with genetic advances.

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Section: Discussionmentioning

confidence: 98%

Epidemiology of Rare Hereditary Diseases in the European Part of Russia: Point and Cumulative Prevalence

Зинченко

Marakhonov

et al. 2021

Front. Genet.

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“…The Adyge-Khablsky district is multi-ethnic [12,28,29]. Sex ratio in the entire surveyed population: in pre-reproductive and reproductive groups-1:1 (M:F), in post-reproductive group-0.6:1 (M:F) [30].…”

Section: Survey Populationmentioning

confidence: 99%

“…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 including surnames frequencies [30]. Each of the studied districts of the region has one central district hospital, which includes in-patient and out-patient facilities and several rural outpatient clinics and hospitals in the villages.…”

Section: Survey and Protocolmentioning

confidence: 99%

Epidemiology of Hereditary Diseases in the Karachay-Cherkess Republic

Зинченко

Makaov²,

Marakhonov

et al. 2020

IJMS

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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—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.

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Analysis of the Age and Sex Structure of the Population of Karachay-Cherkessia Republic

Cited by 2 publications

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Epidemiology of Rare Hereditary Diseases in the European Part of Russia: Point and Cumulative Prevalence

Epidemiology of Rare Hereditary Diseases in the European Part of Russia: Point and Cumulative Prevalence

Epidemiology of Hereditary Diseases in the Karachay-Cherkess Republic

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