References

medgen

Медицинская генетика

Medical Genetics

2073-7998

Publishing House «Genius Media» LLC

medgen-190

Research Article

НАУЧНЫЕ ОБЗОРЫ

REVIEW

Генетические факторы в формировании интракраниальных артериальных аневризм

Genetic factors in development of intracranial arterial aneurisms

Белоусова

О. Б.

Belousova

O. B.

noemail@neicon.ru

Горожанин

В. А.

Gorozhanin

V. A.

noemail@neicon.ru

«Научно-исследовательский институт нейрохирургии им. академика Н.Н. Бурденко» Министерства здравоохраненияРоссияThe Scientific Research Neurosurgery Institute named after the academician Nikolay Nilovich BurdenkoRussian Federation

2016

26012017

1512313

2017

Белоусова О.Б., Горожанин В.А.

Belousova O.B., Gorozhanin V.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.medgen-journal.ru/jour/article/view/190

Лечение интракраниальных артериальных аневризм (ИА) представляет одну из наиболее актуальных проблем неврологии и нейрохирургии, так как эта патология сопряжена с высоким риском неблагоприятных исходов. В последние десятилетия в связи с широким применением методов неинвазивной диагностики сосудистых заболеваний мозга установлено, что распространенность ИА существенно выше, чем считалось ранее - аневризмы выявляются примерно у 2,8% населения. Этот факт заставил вновь обратиться к проблеме этиологии и патогенеза ИА, прогнозированию их разрыва. Многие годы основным фактором формирования и разрыва ИА считалась артериальная гипертония. Ряд исследователей указывал также на существенную роль состояния сосудистой стенки. Эти данные и клинические сведения о семейных ИА привлекли внимание к изучению генетических факторов формирования аневризм. Быстрое развитие технологий, позволяющих анализировать генетические и молекулярные основы возникновения и развития заболеваний человека, позволили по-новому подойти к проблеме этиологии и патогенеза ИА. Цель обзора - анализ современного состояния изучения генетических основ формирования артериальных ИА. Анализ литературы показал, что количество и объем генетических исследований у больных с ИА постоянно возрастают, что свидетельствует об устойчивом интересе к проблеме. К настоящему времени выявлено более 20 локусов и генов, достоверно ассоциированных с ИА. Для нескольких их них эта связь подтверждена независимыми исследованиями. Гены и локусы, ассоциация которых с ИА наиболее достоверна, внесены в OMIM (Online Mendelian Inheritance in Man). Показана гетерогенность генетических изменений в разных популяциях. Начаты сопоставления генетических изменений с особенностями клинических проявлений аневризм. Полученные данные позволили отнести ИА к мультифакториальным заболеваниям. Эти представления в клинической практике позволяют определять роль отдельных факторов и степень риска по заболеванию и формировать группы людей, подлежащие скринингу. Необходимо дальнейшее изучение роли генетических изменений в развитии патологии и их связи с другими модифицируемыми и немодифицируемыми факторами формирования ИА, а также проведение клинико-генетических сопоставлений, в частности, в группах с разорвавшимися и неразорвавшимися аневризмами с целью прогнозирования разрыва и дифференцированного подхода к хирургическому лечению.

Background. Management of intracranial arterial aneurysms remains one of the most important problems of the vascular neurosurgery because of high morbidity and mortality rate. According to recent data, the prevalence of Intracranial Aneurysms (IA) is much higher, than was thought before. Etiology and pathogenesis of IA remains obscure. Such recognized factors as arterial hypertension, age and smoking cannot fully explain aneurysm formation and clinical course. Increasing evidence of familial aneurysms and high incidence of IA in such families and in patients with congenital connective tissue disease together with modern possibilities in genetic studies led to investigations of the genetic origin of IA. The Aim of the study was to summaries what is presently known about genetics of IA. Results. Analysis of the literature showed an increase in the number of publications and volumes of testing data in the study of genetic factors in the etiology of aneurysms. More than 20 loci and genes, associated with IA, are identified. Some of them are confirmed in independent investigations. Loci with a high degree of reliability are registered in OMIM. Genetic heterogeneity in different population groups is shown. Attempts are made to link identified genetic changes with the clinical course of IA. Further studies are needed to find IA susceptibility genes and there interaction with known risk factors, that will in future lead to new therapeutic opportunities.

генетика церебральных аневризмполногеномный поиск ассоциациймультифакториальные заболеванияgenes of intracranial aneurysmsfamilial aneurysmsgenome-wide association studies

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