Epidemiology of hereditary eye disease in the populations of Russian Federation
<p> <b>V.V. Kadyshev<sup>1</sup>, E.K. Ginter<sup>1</sup>, S.I. Kutsev<sup>1</sup>, Zh.G. Oganezova<sup>1,2</sup>, R.A. Zinchenko<sup>1,3</sup></b> </p> <p> <b><sup>1</sup>Research Center fo...
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| Format: | Article |
| Language: | Russian |
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Prime-Media
2022-05-01
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| Series: | РМЖ "Клиническая офтальмология" |
| Online Access: | http://clinopht.com/upload/iblock/908/908c33ed6ec8d5e9d65b6acf6655171b.pdf |
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| author | V.V. Kadyshev E.K. Ginter S.I. Kutsev Zh.G. Oganezova R.A. Zinchenko |
| author_facet | V.V. Kadyshev E.K. Ginter S.I. Kutsev Zh.G. Oganezova R.A. Zinchenko |
| author_sort | V.V. Kadyshev |
| collection | DOAJ |
| description | <p>
<b>V.V. Kadyshev<sup>1</sup>, E.K. Ginter<sup>1</sup>, S.I. Kutsev<sup>1</sup>, Zh.G. Oganezova<sup>1,2</sup>, R.A. Zinchenko<sup>1,3</sup></b>
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<p>
<b><sup>1</sup>Research Center for Medical Genetics, Moscow, Russian Federation</b>
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<b><sup>2</sup>Pirogov Russian National Research Medical University, Moscow, Russian Federation</b>
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<b><sup>3</sup>N.A. Semashko National Research Institute of Public Health, Moscow, Russian Federation</b>
</p>
<p>
<i><b>Aim</b>: genetic epidemiological study of hereditary eye diseases in various populations of the Russian Federation and comparative analysis of these findings.</i>
</p>
<p>
<i><b>Patients and Methods:</b> 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.</i>
</p>
<p>
<i><b>Results</b>: 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).</i>
</p>
<p>
<i><b>Keywords</b>: ophthalmogenetics, genetic epidemiological study, spectrum, ethnic grou p, type of inheritance, segregation, accumulation, isolated and syndromic hereditary eye diseases, prevalence, retinal degeneration.</i>
</p>
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<i><b>For citation:</b> 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.</i>
</p>
<i><br>
</i><br> |
| format | Article |
| id | doaj-art-233713ed987c4084b88abf0a5046641d |
| institution | Kabale University |
| issn | 2311-7729 2619-1571 |
| language | Russian |
| publishDate | 2022-05-01 |
| publisher | Prime-Media |
| record_format | Article |
| series | РМЖ "Клиническая офтальмология" |
| spelling | doaj-art-233713ed987c4084b88abf0a5046641d2025-01-16T09:39:37ZrusPrime-MediaРМЖ "Клиническая офтальмология"2311-77292619-15712022-05-0122231467Epidemiology of hereditary eye disease in the populations of Russian FederationV.V. Kadyshev0E.K. Ginter1S.I. Kutsev2Zh.G. Oganezova3R.A. Zinchenko4Russian Journal of Clinical Ophthalmology, Publisher of «Medicina-Inform» Address for correspondence: Russia, 105064, Moscow, P.O. Box 399Russian Journal of Clinical Ophthalmology, Publisher of «Medicina-Inform» Address for correspondence: Russia, 105064, Moscow, P.O. Box 399Russian Journal of Clinical Ophthalmology, Publisher of «Medicina-Inform» Address for correspondence: Russia, 105064, Moscow, P.O. Box 399Russian Journal of Clinical Ophthalmology, Publisher of «Medicina-Inform» Address for correspondence: Russia, 105064, Moscow, P.O. Box 399Russian Journal of Clinical Ophthalmology, Publisher of «Medicina-Inform» Address for correspondence: Russia, 105064, Moscow, P.O. Box 399<p> <b>V.V. Kadyshev<sup>1</sup>, E.K. Ginter<sup>1</sup>, S.I. Kutsev<sup>1</sup>, Zh.G. Oganezova<sup>1,2</sup>, R.A. Zinchenko<sup>1,3</sup></b> </p> <p> <b><sup>1</sup>Research Center for Medical Genetics, Moscow, Russian Federation</b> </p> <p> <b><sup>2</sup>Pirogov Russian National Research Medical University, Moscow, Russian Federation</b> </p> <p> <b><sup>3</sup>N.A. Semashko National Research Institute of Public Health, Moscow, Russian Federation</b> </p> <p> <i><b>Aim</b>: genetic epidemiological study of hereditary eye diseases in various populations of the Russian Federation and comparative analysis of these findings.</i> </p> <p> <i><b>Patients and Methods:</b> 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.</i> </p> <p> <i><b>Results</b>: 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).</i> </p> <p> <i><b>Keywords</b>: ophthalmogenetics, genetic epidemiological study, spectrum, ethnic grou p, type of inheritance, segregation, accumulation, isolated and syndromic hereditary eye diseases, prevalence, retinal degeneration.</i> </p> <p> <i><b>For citation:</b> 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.</i> </p> <i><br> </i><br>http://clinopht.com/upload/iblock/908/908c33ed6ec8d5e9d65b6acf6655171b.pdf |
| spellingShingle | V.V. Kadyshev E.K. Ginter S.I. Kutsev Zh.G. Oganezova R.A. Zinchenko Epidemiology of hereditary eye disease in the populations of Russian Federation РМЖ "Клиническая офтальмология" |
| title | Epidemiology of hereditary eye disease in the populations of Russian Federation |
| title_full | Epidemiology of hereditary eye disease in the populations of Russian Federation |
| title_fullStr | Epidemiology of hereditary eye disease in the populations of Russian Federation |
| title_full_unstemmed | Epidemiology of hereditary eye disease in the populations of Russian Federation |
| title_short | Epidemiology of hereditary eye disease in the populations of Russian Federation |
| title_sort | epidemiology of hereditary eye disease in the populations of russian federation |
| url | http://clinopht.com/upload/iblock/908/908c33ed6ec8d5e9d65b6acf6655171b.pdf |
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