Key result
The genetic architecture determining the severity of multiple sclerosis is polygenic, formed by weak to moderate effects of multiple genetic variants, including sex-specific determinants.
Why the study?
Identifying the genetic basis of MS progression may explain clinical heterogeneity and contribute to new tools for prognosis and personalized treatment.
Genetic variants, particularly those involved in inflammation and neurogenesis, contribute to the severity of multiple sclerosis in a polygenic manner.
Genetic insights may refine MS prognosis; leaves open validation before clinical translation.
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.
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Кулакова et al. (2025) conducted a review in Multiple sclerosis. Genomic variation was evaluated on Multiple sclerosis severity (MSSS and ARMSS). The genetic architecture determining the severity of multiple sclerosis is polygenic, formed by weak to moderate effects of multiple genetic variants, including sex-specific determinants.
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