rpcardioRational Pharmacotherapy in CardiologyРациональная Фармакотерапия в Кардиологии1819-64462225-3653«SILICEA-POLIGRAF» LLC10.20996/1819-6446-2014-10-6-646-650rpcardio-303Research ArticleINNOVATIVE CARDIOLOGYИННОВАЦИОННАЯ КАРДИОЛОГИЯPHARMACOGENETIC TESTING OPPORTUNITIES IN CARDIOLOGY BASED ON EXOME SEQUENCINGВОЗМОЖНОСТИ ФАРМАКОГЕНЕТИЧЕСКОГО ТЕСТИРОВАНИЯ В КАРДИОЛОГИИ НА ОСНОВЕ ДАННЫХ ЭКЗОМНОГО СЕКВЕНИРОВАНИЯЩербаковаН. В.ShcherbakovaN. V.

лаборант исследователь лаборатории молекулярной генетики отдела клинической кардиологии и молекулярной генетики

101990, Москва, Петроверигский пер., 10

Petroverigsky per. 10, Moscow, 101990 Russia

ЕршоваА. И.ErshovaA. I.

к.м.н., с.н.с. той же лаборатории

101990, Москва, Петроверигский пер., 10

Petroverigsky per. 10, Moscow, 101990 Russia

СувороваА. А.SuvorovaA. A.

м.н.с. той же лаборатории

101990, Москва, Петроверигский пер., 10

Petroverigsky per. 10, Moscow, 101990 Russia

ХлебусЭ. Ю.HlebusE. Y.

лаборант той же лаборатории

101990, Москва, Петроверигский пер., 10

Petroverigsky per. 10, Moscow, 101990 Russia

МешковА. Н.MeshkovA. N.

к.м.н., руководитель той же лаборатории

101990, Москва, Петроверигский пер., 10

Petroverigsky per. 10, Moscow, 101990 Russia

meshkov@lipidclinic.ruБойцовС. А.BoytsovS. A.

д.м.н., профессор, руководитель отдела клинической кардиологии и молекулярной генетики, директор

101990, Москва, Петроверигский пер., 10

Petroverigsky per. 10, Moscow, 101990 Russia

Государственный научно-исследовательский центр профилактической медициныРоссияState Research Center for Preventive MedicineRussian Federation201425092015106646650Copyright © Shcherbakova N.V., Ershova A.I., Suvorova A.A., Hlebus E.Y., Meshkov A.N., Boytsov S.A., 20152015Щербакова Н.В., Ершова А.И., Суворова А.А., Хлебус Э.Ю., Мешков А.Н., Бойцов С.А.Shcherbakova N.V., Ershova A.I., Suvorova A.A., Hlebus E.Y., Meshkov A.N., Boytsov S.A.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.rpcardio.online/jour/article/view/303Aim

Aim. To study what cardiac drugs currently have any comments on biomarkers and what information can be obtained by pharmacogenetic testing using data exome sequencing in patients with cardiac diseases.

Material and methods

Material and methods. Exome sequencing in random participant of the ATEROGEN IVANOVO study and bioinformatics analysis of the data were performed. Point mutations were annotated using ANNOVAR program, as well as comparison with a number of specialized databases was done on the basis of user protocols.

Results

Results. 11 cardiac drugs and 7 genes which variants can influence cardiac drug metabolism were analyzed. According to exome sequencing of the participant we did not reveal allelic variants that require dose regime correction and careful efficacy control.

Conclusion

Conclusion. The exome sequencing application is the next step to a wide range of personalized therapy. Future opportunities for improvement of the risk-benefit ratio in each patient are the main purpose of the collection and analysis of pharmacogenetic data.

Цель

Цель. Изучить, какие кардиологические препараты в настоящий момент имеют комментарии по биомаркерам и какую информацию можно получить при фармако-генетическом тестировании с использованием данных экзомного секвенирования у пациента с кардиологической патологией.

Материал и методы

Материал и методы. Проведено секвенирование экзома случайного участника исследования АТЕРОГЕН ИВАНОВО и биоинформационный анализ полученных данных. Найденные мутации были проаннотированы с помощью программы ANNOVAR, проведено сравнение на основе пользовательских протоколов с рядом специализированных баз данных.

Результаты

Результаты. Проанализировано 11 препаратов и 7 генов, варианты в которых могут повлиять на метаболизм препаратов, используемых в кардиологии. По результатам экзомного секвенирования участника нашего исследования аллельных вариантов, требующих коррекции стандартного режима дозирования и контроля эффективности, выявлено не было.

Заключение

Заключение. Применение экзомного секвенирования является очередным шагом для широкого применения персонифицированной терапии. Главной целью сбора и анализа фармакогенетических данных является будущая возможность оптимизации соотношения риск-польза для каждого пациента.

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