GENETIC RISK FACTORS FOR FAMILIAL INTRACRANIALANEURYSMS. LITERATURE REVIEW.

Abstract

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.