Current opinion in neurology · 2026
The genetics of multiple sclerosis: an updated perspective.
СтатьяОбзорНазвание и аннотация: Перевод в очереди
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Bellucci Gianmarco, Baranzini Sergio E
Аннотация
PURPOSE OF REVIEW: This review highlights the latest advances in the genetics of multiple sclerosis (MS). While earlier research defined the polygenic architecture of disease susceptibility, recent efforts have focused on unraveling the genetics of disease progression and dissecting the interplay between host genetics and environmental triggers.
RECENT FINDINGS: The discovery of the first locus associated with MS severity ( DYSF-ZNF638 ) revealed central nervous system (CNS)-intrinsic mechanisms of progression distinct from immune-mediated susceptibility. Recently, a multi-ancestry genome-wide association studies confirmed most of the previously identified susceptibility loci (most of which are involved in immune biology) and identified 4 additional associations. Mounting evidence on EBV-host genetic convergence highlights critical gene-environment interactions in disease etiopathogenesis.
SUMMARY: Advances in genetics are broadening the conceptual framework of MS pathogenesis, separating the immunological triggers of disease susceptibility from distinct, CNS-specific drivers of disease progression. Future efforts leveraging longitudinal, deeply phenotyped cohorts and functional validations will empower translational applications for prevention, prognostication, and treatment.
RECENT FINDINGS: The discovery of the first locus associated with MS severity ( DYSF-ZNF638 ) revealed central nervous system (CNS)-intrinsic mechanisms of progression distinct from immune-mediated susceptibility. Recently, a multi-ancestry genome-wide association studies confirmed most of the previously identified susceptibility loci (most of which are involved in immune biology) and identified 4 additional associations. Mounting evidence on EBV-host genetic convergence highlights critical gene-environment interactions in disease etiopathogenesis.
SUMMARY: Advances in genetics are broadening the conceptual framework of MS pathogenesis, separating the immunological triggers of disease susceptibility from distinct, CNS-specific drivers of disease progression. Future efforts leveraging longitudinal, deeply phenotyped cohorts and functional validations will empower translational applications for prevention, prognostication, and treatment.