GENETIC RISK FACTORS FOR FAMILIAL INTRACRANIAL ANEURYSMS. LITERATURE REVIEW.
Introduction. Subarachnoid hemorrhage (SAH) is a special type of acute cerebrovascular accident resulting from rupture of intracranial aneurysms. Sporadic and familial forms of SAH are distinguished. The main problem of subarachnoid hemorrhage is the difficulty of early diagnosis, due to the asymptomatic course of the disease with sudden manifestation. Untimely treatment leads to serious consequences such as disability and death. For this reason, this issue possesses the great medical and social significance. With the development of preventive and personalized medicine approaches, it became possible to conduct the early diagnosis by genetic markers which determine the etiology of diseases.
Purpose. To review the literature data on the study of candidate genes and clinically significant polymorphisms that determine the risk of intracranial aneurysm formation, their rupture and, accordingly, SAH in familial forms.
Search strategy. The local articles, collections containing statistical data on morbidity,were studied for assess the significance and relevance of the problem of this disease on the territory of the Republic of Kazakhstan which were presented in Russian.
In the process of searching the main literature, the following search engine was used: Pubmed, for the keywords: intracranial aneurysms and genetics. The period between years 2011-2021 was selected. A total of 114 publications were identified on this topic. The study included only full-text publications in English, which are devoted to the above issue, excluded publications in other languages (103 publications). The criteria for inclusion in the review were articles in the study of which family cases were included and molecular genetic research methods were used. When applying these criteria, the list of publications was reduced to 31, the analysis of which is presented in this literature review.
Results and conclusions. Based on the results of the literature review, numerous publications demonstrated that, to date, exact number of genes involved in the pathophysiology of SAH is unknown. However, there are several genes that are already recommended for use in screening and identification of risk groups.
Akbota М. Aitkulova1,3 https://orcid.org/0000-0001-5016-0932
Gulmira N. Kulmambetova1, https://orcid.org/0000-0001-8723-3752
Botagoz D. Jamantayeva2,
Elena V. Zholdybayeva1, https://orcid.org/0000-0002-9677-008Х
1 Republican State Enterprise “National Center for Biotechnology” under the Science Committee of Ministry of Education and Science of the Republic of Kazakhstan, Nur-Sultan, Republic of Kazakhstan;
2 JSC "National Center for Neurosurgery, Nur-Sultan, Republic of Kazakhstan.
3 Non-profit joint-stock company “Al-Farabi Kazakh National University” Аlmaty, Republic of Kazakhstan
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Aitkulova A.М., Kulmambetova G.N., Jamantayeva B.D., Zholdybayeva E.V. Genetic risk factors for familial intracranial aneurysms. Literature review // Nauka i Zdravookhranenie [Science & Healthcare]. 2021, (Vol.23) 5, pp. 185-193. doi 10.34689/SH.2021.23.5.020Related publications:
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