Epidemiology of hereditary eye disease in the populations of Russian Federation
DOI: 10.32364/2311-7729-2022-22-2-69-79
V.V. Kadyshev1, E.K. Ginter1, S.I. Kutsev1, Zh.G. Oganezova1,2, R.A. Zinchenko1,3
1Research Center for Medical Genetics, Moscow, Russian Federation
2Pirogov Russian National Research Medical University, Moscow, Russian Federation
3N.A. Semashko National Research Institute of Public Health, Moscow, Russian Federation
Aim: genetic epidemiological study of hereditary eye diseases in various populations of the Russian Federation and comparative analysis of these findings.
Patients and Methods: the sample included 12 ethnic groups from 14 regions of European Russia. The entire population irrespective of gender or age was examined. To confirm a certain type of inheritance of diseases from heterogeneous groups, the material was subjected to the multicomponent analysis used in multiple family registration. The rate of segregation was evaluated using the Weinberg proband method. Molecular genetic tests (Sanger sequencing, MLPA, AFLP, RFLP, whole exome sequencing) were applied. To identify the cases of hereditary disease accumulation in individual populations and/or ethnic groups, the prevalence of certain diseases in this population was calculated using F-distribution to compare the samples of rare diseases.
Results: more than 46,000 patients and their relatives with presumably hereditary conditions were examined and data were collected. 554 clinically diverse hereditary diseases in 9,979 individuals were identified. Isolated hereditary eye disease (60 clinical variants) was identified in 1,407 patients (14.56%). The mean prevalence of isolated hereditary eye disease was 1:2,272 (or 44.01 per 100,000). When assessing patterns of nosological spectrum and prevalence of isolated hereditary eye disease in each population/ethnic group using principal component analysis, 2 clusters were isolated. The first cluster includes 6 Russian populations and the second cluster includes 5 ethnic Volga Region groups, which are more similar to Russian populations than the North Caucasus people. In general, 57 hereditary syndromes (affecting anterior and posterior eye segments) in 1,051 patients were discovered. The mean prevalence of syndromic hereditary eye disease was 1:3,040 (or 32.89 per 100,000).
Keywords: ophthalmogenetics, genetic epidemiological study, spectrum, ethnic grou p, type of inheritance, segregation, accumulation, isolated and syndromic hereditary eye diseases, prevalence, retinal degeneration.
For citation: Kadyshev V.V., Ginter E.K., Kutsev S.I. et al. Epidemiology of hereditary eye disease in the populations of Russian Federation. Russian Journal of Clinical Ophthalmology. 2022;22(2):69–79 (in Russ.). DOI: 10.32364/2311-7729-2022-22-2-69-79.
About the authors:
Vitaliy V. Kadyshev — C. Sc. (Med.), senior researcher of the Laboratory of Genetic Epidemiology, Head of the Department of Ophthalmogenetics of the Institute of Higher and Additional Vocational Education, Head of the Research Clinical Center of Genetics of Eye Diseases, geneticist, ophthalmologist, Research Center for Medical Genetics; 1, Moskvorechye str., Moscow, 115522, Russian Federation; ORCID iD 0000-0001-7765-3307.
Evgeniy K. Ginter — Dr. Sc. (Biol.), Professor, Academician of the Russian Academy of Sciences, research supervisor, Research Center for Medical Genetics; 1, Moskvorechye str., Moscow, 115522, Russian Federation; ORCID iD 0000-0001-6920-6726.
Sergey I. Kutsev — Dr. Sc. (Med.), Professor, Corresponding Member of the RAS, Director of the Research Center for Medical Genetics; 1, Moskvorechye str., Moscow, 115522, Russian Federation; ORCID iD 0000-0002-3133-8018.
Zhanna G. Oganezova — C. Sc. (Med.), associate professor of the Academician A.P. Nesterov Department of Ophthalmology, Pirogov Russian National Research Medical University; 1, Ostrovityanov str., Moscow, 117437, Russian Federation; associate professor of Department of Ophthalmogenetics of the Institute of Higher and Additional Professional Education, Research Center for Medical Genetics; 1, Moskvorechye str., Moscow, 115522, Russian Federation; ORCID iD 0000-0002-4437-9070.
Rena A. Zinchenko — Dr. Sc. (Med.), Professor, Deputy Director for Scientific Clinical Work, Head of the Laboratory of Genetic Epidemiology, Research Center for Medical Genetics; 1, Moskvorechye str., Moscow, 115522, Russian Federation; senior researcher of the Division of the Studies of Public Health, N.A. Semashko National Research Institute of Public Health; 12 build. 1, Vorontsovo Pole, Moscow, 105064, Russian Federation; ORCID iD 0000-0003-3586-3458.
Contact information: Vitaliy V. Kadyshev, e-mail: vvh.kad@gmail.com.
Financial Disclosure: the study is supported by the RSF (research project No. 20-015-00061) and State Target of the Ministry of Science and Higher Education of Russian Federation. No authors have a financial or property interest in any material or method mentioned.
There is no conflict of interests.
Received 18.03.2022.
Revised 12.04.2022.
Accepted 29.04.2022.
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