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Genetically Reduced MTHFR Activity and Multiple Sclerosis Risk: A Protective Signal from Large-Scale GWAS
Genetically Reduced MTHFR Activity and Multiple Sclerosis Risk: A Protective Signal from Large-Scale GWAS

A recent study in the Journal of Neuroimmunology reports that the common MTHFR C677T variant, which reduces MTHFR enzymatic activity and raises homocysteine levels, is associated with a lower risk of developing multiple sclerosis. By analyzing large genome-wide association datasets comprising more than 43,000 MS cases, the authors found consistent evidence that genetically reduced MTHFR activity may protect against MS susceptibility, although it does not appear to influence disease severity. The findings point to folate metabolism, homocysteine regulation, and immune-cell function as potentially important biological pathways in MS pathogenesis, while also emphasizing the need for further mechanistic and population-diverse studies.

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