Contribution of genomic variation to the severity of multiple sclerosis
https://doi.org/10.14412/2074-2711-2025-1-78-84
Abstract
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.
Supporting agencies: The study was conducted within the framework of the state assignment of the N.I. Pirogov Russian National Research Medical University of the Ministry of Health of Russia No. 124020900018-1.
About the Authors
O. G. Kulakova
N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia
Russian Federation
Competing Interests:
Russian Federation
Olga Georgievna Kulakova
1, Ostrovityanova St., Moscow 117997
Competing Interests:
The investigation has not been sponsored
N. A. Matveeva
N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia
Russian Federation
Competing Interests:
Russian Federation
1, Ostrovityanova St., Moscow 117997
Competing Interests:
The investigation has not been sponsored
I. S. Kiselev
N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia
Russian Federation
Competing Interests:
Russian Federation
1, Ostrovityanova St., Moscow 117997
Competing Interests:
The investigation has not been sponsored
A. N. Boyko
N.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 Russia
Russian Federation
Competing Interests:
Russian Federation
1, Ostrovityanova St., Moscow 117997
1, Ostrovityanova St., Build. 10, Moscow 117997
Competing Interests:
The investigation has not been sponsored
O. O. Favorova
N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia
Russian Federation
Competing Interests:
Russian Federation
1, Ostrovityanova St., Moscow 117997
Competing Interests:
The investigation has not been sponsored
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For citations:
Kulakova OG, Matveeva NA, Kiselev IS, Boyko AN, Favorova OO. Contribution of genomic variation to the severity of multiple sclerosis. Nevrologiya, neiropsikhiatriya, psikhosomatika = Neurology, Neuropsychiatry, Psychosomatics. 2025;17(1):78-84. (In Russ.) https://doi.org/10.14412/2074-2711-2025-1-78-84
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