Quantitative T1 as a Marker of Myelin Content in Multiple Sclerosis: A Genome-Wide Association Study

Motivation: Patients with multiple sclerosis (MS) display variable levels of repair activity within white matter lesions, which can be assessed in vivo using myelin-sensitive MRI. Potential correlates of such repair activity in MS remain poorly understood. Goal(s): To explore genetic correlates of tissue repair in MS lesions, assessed with quantitative MRI. Approach: Chronic MS lesions were classified according to myelin content using quantitative T1 maps. GWAS was conducted to identify variants associated with lesion classes. Results: Genetic analysis provided suggestive evidence for single nucleotide polymorphisms associated with distinct patterns in MS lesion types, suggesting genotype-specific influences on disease pathology. Impact: This study provides insight into genetic influences on remyelination in MS, highlighting loci that may guide personalized therapeutic approaches. These findings could lead to new research into genetic predictors of repair capacity, potentially advancing targeted treatments for neuroprotection and recovery.