THE PERSONALIZED IMMUNOGENOTYPIC PREDICTION OF HUMAN PREDISPOSITION TO OPHTHALMO-PATHOLOGY OF DIFFERENT GENESIS
V. I. Konenkov,
A. V. Shevchenko,
V. F. Prokof’ev,
V. V. Klimontov,
D. V. Chernykh,
V. V. Chernykh,
A. N. Trunov https://doi.org/10.15372/SSMJ20190301
Abstract
The purpose of the study was to search high-informative genetic criteria of the personalized forecast at presence of the earliest feebly marked of clinical attributes of organum visus pathology development.
Material and methods. The results of immunogenotypic survey of 403 persons, among which 102 patients with age-related macular degeneration (AMD) and 90 patients with diabetic retinopathy (DR), 211 patients of similar gender and age as control groups of comparison are submitted. The analysis of regulation locus polymorphism TNFА (rs361525, rs1800629 and rs1800630), IL1B (rs1143627), IL4 (rs2243250), IL6 (rs1800795), IL10 (rs1800872, rs1800872) genes, vascular endothelial growth factor gene VEGF (rs3025039, rs699947), matrix metalloproteinases genes MMP (rs2438650, rs3025058, rs3918242) in this groups has been carried out.
Results and discussion. Two groups of parameters have been shown through comparison of combined genetic attributes frequencies in comparable groups with/or absence AMD. One of these groups is distributed with primary frequency among patients with AMD whereas another is distributed only among elderly with absence of clinical and tool attributes of disease. On the contrary the significant prevalence of the attributes positively associated with the pathology development over negatively associated attributes has been revealed among DR. The revealed genetic attributes specify mainly inflammatory character of DR, as against AMD in which prevail degenerate and sclerogenic processes.
Conclusion. Thus, the results of received genetic researches show an opportunity to personify predisposition of the significant part of elderly patients to development of ophthalmo-pathology microangiopathy or degenerate genesis with the purpose of realization of purposeful preventive actions.
About the Authors
V. I. Konenkov
Research Institute of Clinical and Experimental Lymphology – Branch of the Institute of Cytology and Genetics of SB RAS
Russian Federation
Russian Federation
Konenkov Vladimir Iosifovich – doctor of medical sciences, professor, academician of RAS, head of laboratory for clinical immunogenetics, scientific deputy director for sciences
630060, Novosibirsk, Timakov str., 2
A. V. Shevchenko
Research Institute of Clinical and Experimental Lymphology – Branch of the Institute of Cytology and Genetics of SB RAS
Russian Federation
Russian Federation
Shevchenko Alla Vladimirovna – doctor of biological sciences, leading researcher of laboratory for clinical immunogenetics
630060, Novosibirsk, Timakov str., 2
V. F. Prokof’ev
Research Institute of Clinical and Experimental Lymphology – Branch of the Institute of Cytology and Genetics of SB RAS
Russian Federation
Russian Federation
Prokof’ev Viktor Fedorovich – candidate of medical sciences, leading researcher of laboratory for clinical immunogenetics
630060, Novosibirsk, Timakov str., 2
V. V. Klimontov
Research Institute of Clinical and Experimental Lymphology – Branch of the Institute of Cytology and Genetics of SB RAS
Russian Federation
Russian Federation
Klimontov Vadim Valerievich – doctor of medical sciences, professor of RAS, head of the laboratory of endocrinology, deputy director for science
630060, Novosibirsk, Timakov str., 2
D. V. Chernykh
S. Fyodorov Eye Microsurgery Federal State Institution of Minzdrav of Russia, Novosibirsk Branch
Russian Federation
Russian Federation
Chernykh Dmitriy Valerievich – candidate of medical sciences, ophthalmologist
630071, Novosibirsk, Kolkhidskaya str., 10
V. V. Chernykh
S. Fyodorov Eye Microsurgery Federal State Institution of Minzdrav of Russia, Novosibirsk Branch
Russian Federation
Russian Federation
Chernykh Valeriy Vyacheslavovich – doctor of medical sciences, professor, director
630071, Novosibirsk, Kolkhidskaya str., 10
A. N. Trunov
S. Fyodorov Eye Microsurgery Federal State Institution of Minzdrav of Russia, Novosibirsk Branch
Russian Federation
Russian Federation
Trunov Аleksandr Nikolaevich – doctor of medical sciences, professor, deputy director for science work
630071, Novosibirsk, Kolkhidskaya str., 10
References
1. Бабич П.Н., Чубенко А.В., Лапач С.Н. Применение современных статистических методов в практике клинических исследований. Сообщение третье. Отношение шансов: понятия, вычисление и интерпретация // Укр. мед. журн. 2005. 46. (2). 113–119.
2. Вейр Б. Анализ генетических данных. Дискретные генетические признаки / ред. Л.А. Животовский, А.И. Пудовкин. М.: Мир, 1995. 400 с.
3. Гланц С. Медико-биологическая статистика. М.: Практика, 1998. 459 с.
4. Гублер Е.В. Вычислительные методы анализа и распознавания патологических процессов. Л.: Медицина, 1978. 296 с.
5. Коненков В.И., Шевченко А.В., Прокофьев В.Ф., Климонтов В.В., Тян Н.В., Черных В.В., Черных Д.В., Еремина А.В., Трунов А.Н. Комбинации полиморфизмов в регуляторных участках генов цитокинов ассоциированы с диабетической ретинопатией у больных сахарным диабетом 2 типа // Бюл. сиб. мед. 2017. 16. (4). 173–183.
6. Шевченко А.В., Коненков В.И., Прокофьев В.Ф., Повещенко О.В., Лыков А.П., Бондаренко Н.А., Ким И.И. Конституциональные основы уровней спонтанной и индуцированной продукции цитокинов TNA-A, IL-1β, IL-4, IL-6 и IL-10 у здоровых лиц европеоидного населения России // Иммунология. 2016. 37. (5). 232–238.
7. Шевченко А.В., Прокофьев В.Ф., Коненков В.И., Черных В.В., Еремина А.В., Дудникова Л.В., Кашкина Н.Ю., Трунов А.Н. Сетевой подход к анализу локусов количественных признаков генов фактора некроза опухолей (TNFa-863, TNFa-308, TNFa-238), фактора роста сосудистого эндотелия (VEGF-2578, VEGF+936) и матриксных металлопротеиназ (ММР2-1306, ММР3-1171, ММР9-1569) при возрастной макулярной дегенерации // Мед. иммунология. 2017. 19. (5). 537–546.
8. Chernykh V., Shevchenko A., Konenkov V., Prokofiev V., Eremina A., Trunov A. TNF-α gene polymorphisms: association with age-related macular degeneration in Russian population // Int. J. Ophthalmol. 2019. 12. (1). 25–29.
9. Ding Q., Shi Y., Fan B., Fan Z., Ding L., Li F. The interleukin-10 promoter polymorphism rs1800872 (–592C>A) contributes to cancer susceptibility: Metaanalysis of 16 785 cases and 19 713 controls // PLoS One. 2013. 8. (2). e57246.
10. Fritsche L.G., Igl W., Bailey J.N.C., Grassmann F., Sengupta S. A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants // Nat. Genet. 2016. 48. (2). 134–143.
11. Grassmann F., Heid I.M., Weber B.H. Recombinant Haplotypes Narrow the ARMS2/ HTRA1 Association Signal for Age-Related Macular Degeneration // Genetics. 2017. 205. (2). 919–924.
12. Kubaszek A., Pihlajamäki J., Punnonen K., Karhapää P., Vauhkonen I., Laakso M. The C-174G promoter polymorphism of the IL-6 gene affects energy expenditure and insulin sensitivity // Diabetes. 2003. 52. (2). 558–561.
13. Leslie R.D., Pyke D.A. Diabetic retinopathy in identical twins // Diabetes. 1982. 31. (1). 19–21.
14. Lloyd C.J., Moldovan M.V. Exact one-sided confidence bounds for the risk ratio in 2 × 2 tables with structural zero // Biom. J. 2007. 49. (6). 952–963.
15. Mishra B., Swaroop A., Kandpal R.P. Genetic components in diabetic retinopathy // Indian J. Ophthalmol. 2016. 64. (1). 55–61.
16. Resnikoff S., Pascolini D., Etya’ale D., Kocur I., Pararajasegaram R., Pokharel G.P., Mariotti S.P. Global data on visual impairment in the year 2002 // Bull. World Health Organ. 2004. 82. (11). 844–851.
17. Simó-Servat O., Hernández C., Simó R. Genetics in diabetic retinopathy: Current concepts and new insights // Curr. Genomics. 2013. 14. (5). 289–299.
18. Skoog T., Van’t Hooft F.M., Kallin B., Jovinge S., Boquist S., Nilsson J., Eriksson P., Hamsten A. A common functional polymorphism (C->A substitution at position –863) in the promoter region of the tumour necrosis factor-alpha (TNF-alpha) gene associated with reduced circulating levels of TNF-alpha // Hum. Mol. Genet. 1999. 8. (8). 1443–1449.
19. Taher M.Y., Davies D.M., Maher J. The role of the interleukin (IL)-6/IL-6 receptor axis in cancer // Biochem. Soc. Trans. 2018. 46. (6). 1449–1462.
20. Whirl-Carrillo M., McDonagh E.M., Hebert J.M., Gong L., Sangkuhl K., Thorn C.F., Altman R.B., Klein T.E. Pharmacogenomics knowledge for personalized medicine // Clin. Pharmacol. Ther. 2012. 92. (4). 414–417.
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