Clinical and genetic risk assessment of cardiovascular diseases in athletes of national Olympic team of the Republic of Kazakhstan

«Clinical and genetic risk assessment of cardiovascular diseases in athletes of national Olympic team of the Republic of Kazakhstan»

IRN AP09259898

 

   Project relevance:

This project dedicated to the study of the risk of developing cardiovascular diseases (CVD) in athletes. Sudden cardiac death is the most common cause of death in an athlete during sports. A number of underlying structural, arrhythmic, and hereditary cardiovascular diseases (ICVDs) can increase an athlete's risk of sudden cardiac death while playing sports. However, the athlete's heart undergoes physiological adaptations such as long QT interval, left ventricular hypertrophy and dilatation of the cavity, which result from high athletic activity and might recognized as physiological adaptations of the heart. Screening of genetic variants of genes associated with cardiovascular diseases using a cardiogenetic panel will help to give a clearer assessment of the clinical and functional state of the cardiovascular system of athletes.

Project goal

The purpose of our study was the clinical and genetic assessment of the risk of developing cardiovascular diseases in athletes of the national teams of the Republic of Kazakhstan in Olympic sports.

Project Objectives

  1. Assessment of the clinical and functional state of the cardiovascular system of athletes of the national teams of the Republic of Kazakhstan in Olympic sports, sample formation.
  2. Screening of genetic variants of genes associated with cardiovascular diseases using a cardiogenetic panel.
  3. Data analysis and search for an association between mutations in the studied genes and the risk of developing cardiovascular diseases in athletes of the national teams of the Republic of Kazakhstan in Olympic sports.

Expected results:

In frame this study, we will carry out a clinical and genetic assessment of the risk of developing cardiovascular diseases in athletes of the national teams of the Republic of Kazakhstan in Olympic sports. We will form a research group consisting of active athletes, representing priority sports related to disciplines that require a large amount of oxygen and give the greatest load on the cardiovascular the vascular system. Screening of genes and their variants associated with cardiovascular diseases will carried out using our HaloPlex cardiogenetic panel. We will perform a search for an association between mutations in the studied genes and the risk of developing cardiovascular diseases in athletes of the national teams of the Republic of Kazakhstan in Olympic sports based on the obtained data.

   Research team members:

  1. Dauren Yerezhepov, PhD, senior researcher, Laboratory of Genomic and personalized medicine, Center for Life Sciences, PI «National Laboratory Astana», Principal investigator (Scopus ID – 57192868077, ORCID – 0000-0002-4161-1348).
  2. Galiya Bilyalova, candidate of medical sciences, doctor of the highest category, excellent health worker, senior researcher of Center for Life Sciences.
  3. Laura Ukbenova, Master of Business Administration, researcher of Center for Life Sciences.
  4. Saya Amangeldikyzy, Master of Management, researcher of Center for Life Sciences.
  5. Aidana Gabdulkayum, Bachelor, Assistant Researcher, Laboratory of Genomic and Personalized Medicine, PI «National Laboratory Astana».

Main publications of the scientific supervisor of the project

  1. Maxat Zhabagin, Aliya Sarkytbayeva, Inkar Tazhigulova, Dauren Yerezhepov, Svetlana Li, Rakhmetolla Akilzhanov, Alibek Yeralinov, Zhaxylyk Sabitov & Ainur Akilzhanova. Development of the Kazakhstan Y-chromosome haplotype reference database: analysis of 27 Y-STR in Kazakh population. Int J Legal Med 133, 1029–1032 (2019). https://doi.org/10.1007/s00414-018-1859-8 (Cite score – 4.0, Q1, 77th percentile, ranking 44/191).
  2. Sadykov, M., Azizan, A., Kozhamkulov, U., Akilzhanova, A., Yerezhepov, D., Salfinger M. & Chan C. K. Association of genetic variations in the vitamin D pathway with susceptibility to tuberculosis in Kazakhstan. Mol Biol Rep 47, 1659–1666 (2020). https://doi.org/10.1007/s11033-020-05255-3 (Cite score – 1.7, Q2, 18th percentile, ranking 265/324).
  3. Kairov U, Kozhamkulov U, Molkenov A, Rakhimova S, Askapuli A, Zhabagin M, Akhmetova A, Yerezhepov D, Abilova Z, Abilmazhinova A, Bismilda V, Chingisova L, Zhumadilov Z, Akilzhanova A. 2015. Draft genome sequences of two clinical isolates of Mycobacterium tuberculosis from sputum of Kazakh patients. Genome Announc 3(3): e00466-15. https://mra.asm.org/content/3/3/e00466-15. (Cite score – 1.9, Q3, 22th percentile, ranking 248/319).
  4. Кожамкулов У, Каиров У, Рахимова С, Ережепов Д, Ахметова А, Молкенов А, Аскапулы А, Абилова Ж, Жалбинова М, Акильжанова А. Полногеномное секвенирование штаммов M. tuberculosis с различным профилем лекарственной чувствительности на платформе Roche 454 GS FLX+ // Вестник ЮКГФА. – Том 1, №4 (73), С. 66-68 (http://rmebrk.kz/journal/2770).
  5. Кожамкулов У.А., Каиров У.Е., Ережепов Д.А., Ахметова А.Ж., Молкенов А.Б., Акильжанова А.Р. Полногеномное секвенирование клинических изолятов M. tuberculosis с различным профилем лекарственной чувствительности // Биотехнология. Теория и практика. №2. Июнь 2016. С. 20-29 (http://www.biotechlink.org/images/journal/ 2_2016/pdf/2_2_2016.pdf).

Available patents and other protection documents:

Patent for the invention Kozhamkulov U., Yerezhepov D., Rakhimova S., Zhumadilov Zh., Akilzhanova A. "A method for determining the genetic predisposition to tuberculosis based on the study of 1A/G polymorphism of the TLR8 gene and +874 A/T of the IFN-γ gene in persons of Kazakh nationality" (PI “National Laboratory Astana”, registration number 2015/1015.1 from September 7, 2015).

Main publications of the research group

  1. Akilzhanova, A., Guelly, C., Abilova, Z., Rakhimova, S., Akhmetova, A., Kairov, U., Kozhamkulov, U., Nuralinov, O., Abdrakhmanov, A., Akilzhanova, S., Trajanoski, S., Bekbosynova, M., Zhumadilov, Z. Clinical Utility of Using Next Generation Sequencing in Life Threatening Ventricular Arrhythmia // The J of Heart and Lung Transplantation. Volume 39, Issue 4, Supplement, April 2020, Page S360. https://doi.org/10.1016/j.healun.2020.01.432 (Cite score – 12.8, Q1, 99th percentile, ranking 4/420).
  2. Akilzhanova A. R., Zhalbinova M. R., Rakhimova S. E., Andosova S. A., Zhumadilov Z. S., Bekbossynova M. S. Influence of CYP2C9 and VKORC1 on Warfarin Dose and Complications in Kazakhstani Patients with Left Ventricular Assist Device // The J of Heart and Lung Transplantation. 2019. – 38(4). – P. S238. Doi: https://doi.org/10.1016/j.healun.2019. 01.1301 (Cite score – 12.8, Q1, 99th percentile, ranking 4/420).
  3. Г.Н.Билялова и др. Обеспечение фармакологическими и нутриентными средствами представителей единоборств на заключительном этапе подготовки к главным стартам сезона и соревновательном периоде»: Методические рекомендации. под общей редакцией Даленова Е.Д. Нур-Султан: НАО «МУА»,2020.-22с.
  4. Отарбаев Н. К., Табынбаев Н. Б., Ошакбаев К. П., Укбенова Л. Т. Анализ научной деятельности национального медицинского холдинга за 2011-2014 годы: состояние, проблемы и перспективы / / Наука и Здравоохранение. 2015. №3. С. 105-112
  5. Амангелдіқызы С., Каирмуханова Ш.К. Организация медицинской помощи детей воспитанников домов ребенка и организаций образования для детей-сирот и детей, оставшихся без попечения родителей// Журнал “Клиническая медицина Казахстана” (ISSN 1812-2892) 2017. №3 С. 187 (http://clinmedkaz.org/upload/sayi/48/icindekiler_1512189495.pdf).
  6. Kenneth Alibek, Табынбаев Н. Б., Ошакбаев К. П., Айтбаева С. Б., Амангельдикызы С. Инновационная деятельность Национального медицинского холдинга за 2011-2014 годы: состояние, проблемы и перспективы / / Наука и Здравоохранение. 2015. № 4. С. 106-115.