pmjТихоокеанский медицинский журналPacific Medical Journal1609-1175TGMU10.34215/1609-1175-2021-3-11-16pmj-2217Research ArticleОБЗОРЫREVIEWSГенетическая эпидемиология наследственной предрасположенности к кератоконусуGenetic epidemiology of hereditary predisposition to keratoconushttps://orcid.org/0000-0002-3731-1756СоловьевА. И.SolovevA. I.

д-р мед. наук, профессор кафедры биологии,

194044, Санкт-Петербург, ул. Академика Лебедева, 6

MD, PhD, professor, Department of Biology, 

6 Akademika Lebedeva St., Saint Petersburg, 194044

solopiter@gmail.comhttps://orcid.org/0000-0002-5274-6993КуликовА. Н.KulicovA. N.

 д-р мед. наук, доцент, начальник кафедры офтальмологии,

194044, г. Санкт-Петербург, ул. Академика Лебедева, 6

MD, PhD, associate professor, head of the Ophthalmology Department, 

6 Akademika Lebedeva St., Saint Petersburg, 194044

alexey.kulikov@mail.ruhttps://orcid.org/0000-0003-1197-9237ЧурашовС. В.ChurashovS. V.

д-р мед. наук, профессор кафедры офтальмологии,

194044, г. Санкт-Петербург, ул. Академика Лебедева, 6

churashoff@mail.ruГригорьевД. В.GrigorevD. V.

канд. мед. наук, начальник офтальмологического отделения,

690005, г. Владивосток, ул. Ивановская,4

MD, PhD, head of the Ophthalmology Department, 

4 Ivanovskaya St., Vladivostok, 690005

grdmvl@rambler.ruhttps://orcid.org/0000-0001-5156-4242АдоеваЕ. Я.AdoevaE. Y.

канд. биол. наук, доцент кафедры биологии,

194044, г. Санкт-Петербург, ул. Академика Лебедева, 6)

MD, PhD, associate professor, 

6 Akademika Lebedeva St., Saint Petersburg, 194044

adoeva@mail.ruhttps://orcid.org/0000-0003-0191-3752ЛевкоМ. А.LevkoM. A.

канд. мед. наук, доцент кафедры офтальмологии,

191015, Санкт-Петербург, ул. Кирочная, 41

MD, PhD, associate professor, Ophthalmology Department, 

41 Kirochnaya St., Saint Petersburg, 191015

levko11@mail.ruhttps://orcid.org/0000-0003-3910-5160КравцовВ. Ю.KravtsovV. Y.

д-р биол. наук, профессор, заведующий кафедрой биологии,

194044, г. Санкт-Петербург, ул. Академика Лебедева, 6

MD, PhD, professor, head of the Biology Department, 

6 Akademika Lebedeva St., Saint Petersburg, 194044

kvyspb@rambler.ruВоенно-медицинская академия им. С.М. КироваРоссияS.M. Kirov Military Medical AcademyRussian Federation1477 Военно-морской клинический госпитальРоссия1477 Naval Clinical HospitalRussian FederationСеверо-Западный государственный медицинский университет им. И.И. МечниковаРоссияI.I. Mechnikov North-Western State Medical UniversityRussian Federation202127092021031116Copyright © Соловьев А.И., Куликов А.Н., Чурашов С.В., Григорьев Д.В., Адоева Е.Я., Левко М.А., Кравцов В.Ю., 20212021Соловьев А.И., Куликов А.Н., Чурашов С.В., Григорьев Д.В., Адоева Е.Я., Левко М.А., Кравцов В.Ю.Solovev A.I., Kulicov A.N., Churashov S.V., Grigorev D.V., Adoeva E.Y., Levko M.A., Kravtsov V.Y.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.tmj-vgmu.ru/jour/article/view/2217

Обзор литературы, посвященный генетической эпидемиологии кератоконуса, а также принципам поиска наследственных маркеров предрасположенности к этому заболеванию, пригодных для скрининговых обследований в ходе генетической паспортизации населения. Известно, что наследственная предрасположенность к кератоконусу обусловлена мутациями генов, кодирующих клеточный цикл и метаболизм кератоцитов, регулирующих активность тканевых протеолитических ферментов, а также механизмы естественной детоксикации. Гены, ассоциированные с кератоконусом, характеризуются аллельным разнообразием и множественными мутациями, отличающимися разной степенью ассоциации с клинически выраженным заболеванием. В обзоре показано, что генотипы людей из различных географических регионов могут отличаться по признакам и маркерам предрасположенности к этому заболеванию. 

The survey of the literature devoted to genetic epidemiology of keratoconus and also principles of genetic markers search showed predisposition to this disease suitable for screening test in the course of genetic certification of the population. It was revealed that hereditary predisposition to keratokonus was caused by gene mutations, encoding cellular cycle and metabolism of the keratocytes regulating the activity of tissue proteolytic enzymes, and also mechanisms of natural detoxification. Genes associated with keratoconus are characterized by allelic variation and multiple mutations taking different degrees of association with clinically apparent diseases. It was discovered that genotypes of people from different geographic regions can differ in terms of signs and markers showing predisposition to the disease. 

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The authors declare that there are no conflicts of interest present.