nnpNeurology, Neuropsychiatry, PsychosomaticsНеврология, нейропсихиатрия, психосоматика2074-27112310-1342"IMA-Press", LLC10.14412/2074-2711-2025-1-78-84nnp-2451Research ArticleREVIEWSОБЗОРЫContribution of genomic variation to the severity of multiple sclerosisВклад вариативности генома в тяжесть течения рассеянного склерозаhttps://orcid.org/0000-0002-5321-3101КулаковаО. Г.KulakovaO. G.

Ольга Георгиевна Кулакова

117997, Москва, ул. Островитянова, 1

Olga Georgievna Kulakova

1, Ostrovityanova St., Moscow 117997

olga.koulakova@gmail.comhttps://orcid.org/0000-0002-4369-2882МатвееваН. А.MatveevaN. A.

117997, Москва, ул. Островитянова, 1

1, Ostrovityanova St., Moscow 117997

https://orcid.org/0000-0003-3366-4113КиселевИ. С.KiselevI. S.

117997, Москва, ул. Островитянова, 1

1, Ostrovityanova St., Moscow 117997

https://orcid.org/0000-0002-2975-4151БойкоА. Н.BoykoA. N.

117997, Москва, ул. Островитянова, 1

117513, Москва, ул. Островитянова, 1, стр. 10

1, Ostrovityanova St., Moscow 117997

1, Ostrovityanova St., Build. 10, Moscow 117997

https://orcid.org/0000-0002-5271-6698ФавороваО. О.FavorovaO. O.

117997, Москва, ул. Островитянова, 1

1, Ostrovityanova St., Moscow 117997

ФГАОУ ВО «Российский национальный исследовательский медицинский университет им. Н.И. Пирогова» Минздрава РоссииРоссияN.I. Pirogov Russian National Research Medical University, Ministry of Health of RussiaRussian FederationФГАОУ ВО «Российский национальный исследовательский медицинский университет им. Н.И. Пирогова» Минздрава России; отдел нейроиммунологии Института клинической неврологии ФГБУ «Федеральный центр мозга и нейротехнологий» ФМБА России, МоскваРоссияN.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia; Department of Neuroimmunology, Institute of Clinical Neurology, Federal Center for Brain and Neurotechnologies, Federal Medical and Biological Agency of RussiaRussian Federation2025170220251717884Copyright © Kulakova O.G., Matveeva N.A., Kiselev I.S., Boyko A.N., Favorova O.O., 20252025Кулакова О.Г., Матвеева Н.А., Киселев И.С., Бойко А.Н., Фаворова О.О.Kulakova O.G., Matveeva N.A., Kiselev I.S., Boyko A.N., Favorova O.O.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://nnp.ima-press.net/nnp/article/view/2451

Multiple sclerosis (MS) is a chronic autoimmune disease of the central nervous system of polygenic nature, characterized by focal inflammation, demyelination and neurodegeneration. The clinical course of MS is characterized by great heterogeneity. The consistency of the clinical forms of MS in families indicates the involvement of genomic variation in the development of the clinical phenotype. Identifying the genetic basis of MS progression may not only explain the nature of the observed clinical heterogeneity but also contribute to the development of new tools for appropriate prognosis and personalized treatment of the disease. To describe the clinical course of MS, disease severity scores are used; they characterize the degree (speed) of MS progression. The most important methods for assessing the severity of MS are based on the Multiple Sclerosis Severity Score (MSSS) and Age-Related Multiple Sclerosis Severity Score (ARMSS) scales. This review summarizes the data on the contribution of polymorphic genetic variants to MS severity as assessed by the MSSS and ARMSS scales. These data were obtained using the "candidate gene" method and genome-wide association studies.

Рассеянный склероз (РС) – хроническое аутоиммунное заболевание центральной нервной системы полигенной природы, характеризующееся очаговым воспалением, демиелинизацией и нейродегенерацией. Клиническому течению РС свойственна высокая гетерогенность. Конкордантность клинических форм РС в семьях предполагает вовлеченность генетической вариативости в формирование фенотипа заболевания. Выявление генетических основ характера течения РС может не только объяснить природу наблюдаемой клинической гетерогенности, но и способствовать разработке новых инструментов для адекватного прогнозирования и персонализированного лечения заболевания. Для описания клинического течения РС используют показатели тяжести заболевания, которые характеризует степень (скорость) прогрессирования РС. Основные методы оценки тяжести РС опираются на шкалы Multiple Sclerosis Severity Score (MSSS) и Age Related Multiple Sclerosis Severity Score (ARMSS). В настоящем обзоре суммированы данные о вкладе полиморфных генетических вариантов в тяжесть РС, оцениваемую по шкалам MSSS и ARMSS, которые были получены с помощью методов «ген-кандидат» и полногеномного поиска ассоциаций.

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