ISSN Print 2500–1094
ISSN Online 2542–1204
BIOMEDICAL JOURNAL OF PIROGOV UNIVERSITY (MOSCOW, RUSSIA)
ORIGINAL RESEARCH
Clinical population genetic studies of hereditary diseases in the pediatric population of North Ossetia – Alania
About authors
1 Research Centre for Medical Genetics, Moscow, Russia
2 North-Ossetian State Medical Academy, Vladikavkaz, Russia
3 Republican Children’s Clinical Hospital, Vladikavkaz, Russia
4 Obninsk Institute for Nuclear Power Engineering, branch of the National Research Nuclear University (NRNU) MEPhI, Obninsk, Russia
5 Center of Protection of Motherhood and Childhood of the City of Sochi of the Ministry of Health of Krasnodar Krai, Sochi, Russia
Correspondence should be addressed: Rena A. Zinchenko
Moskvorechie, 1, 115522, Moscow, Russia; ur.liam@oknehcnizaner
About paper
Funding: the study was supported as part of the State Assignment of the Research Centre for Medical Genetics and the Ministry of Health of the Republic of North Ossetia–Alania.
Author contribution: Zinchenko RA, Tebieva IS, Kadyshev VV, Murtazina AF, Borovikov AO, Marakhonov AV, Getoeva ZK — patient examination, making the diagnosis, obtaining the informed consent, and biomaterial collection; Zinchenko RA, Tebieva IS — acquisition of data on the number of patients; Zinchenko RA, Tebieva IS, Kutsev SI — study planning, statistical analysis, manuscript writing; Marakhonov AV — analysis of molecular genetic tests; Tebieva IS, Marakhonov AV, Zinchenko RA — editing; Zinchenko RA, Kutsev SI — general management, editing.
Compliance with ethical standards: the study was approved by the Ethics Committee of the Research Centre for Medical Genetics (protocol No. 7 dated 20 December 2017), it was compliant with the standards of Good Clinical Practice and evidence-based medicine. All patients submitted informed consent to participate in the study.
Received: 2024-08-06
Accepted: 2024-09-20
Published online: 2024-10-17
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Fig. Cumulative prevalence of OHDs in urban and rural pediatric population of the surveyed regions of Russia
Table 1. Size of the population examined
Table 2. Cumulative prevalence of hereditary diseases (per 1000 examined children) in pediatric populations of eight districts of the RNO-A and the city of Vladikavkaz
Table 3. Weighted average values of cumulative prevalence (genetic burden) of OHDs in pediatric populations of the rural areas, towns, and district centers by surveyed populations of Russia (per 1000 examined children) [17–20]
Table 4. Distribution of patients and disease entities with OHDs depending on the disease prevalence
Table 5. Nosological spectrum and prevalence (per 100,000 children) of common hereditary diseases (with the prevalence exceeding 1 : 30,000) identified in the pediatric population of the RNO-A
Note: No. ОMIM — numbers of diseases according to the international OMIM catalog by Dr. Victor A. McKusick; PS — phenotypic series of the diseases of heterogeneous group according to OMIM; I/T — inheritance type; N/P — number of patients; RNO-A — Republic of North Ossetia–Alania; ER — average disease prevalence values according to the genetic and epidemiological studies of pediatric population in European Russia; n/d — no data; the prevalence of X-linked diseases is represented by the number of boys.
