New biomarker in demyelinating disorders

      Multiple sclerosis (MS) is caused by a complex interplay between genetic and environmental factors. There are racial differences in the clinical features of MS. Disease-specific biomarkers for MS remain to be elucidated. Potential biomarkers encompass neuroimaging, genetic, immunologic, and biochemical markers, some of which may relate to racial differences. Cortical lesions (CLs) on double inversion recovery images, normalized cortical and deep gray matter volumes are associated with disease severity in both Caucasians and Japanese. In Japanese, HLA-DRB1*04:05 is associated with lower frequencies of CLs and cerebrospinal fluid oligoclonal IgG bands as well as a benign clinical course. We reported an association between the deletion-type copy number variation at gamma delta T cell receptor gene loci and MS susceptibility in Japanese. The frequencies of Vdelta2+ gamma delta T cells, and Vdelta2+Vgamma9+ gamma delta T cells are significantly decreased in MS, while that of Vdelta1+ gamma delta T cells and the Vdelta1/Vdelta2 ratio are significantly increased compared with healthy controls (HCs). The Vdelt1/Vdelta2 ratio positively correlates with disease severity. A genome-wide association study in Japanese MS patients revealed that leptin and lipoprotein A (LPA) single nucleotide polymorphisms (SNPs) are associated with disability. Serum leptin levels are higher in MS than in HCs while LPA level is associated with LPA SNPs. Blood vitamin D levels are lower in both Japanese and Caucasian MS patients than in HCs, and are negatively correlated with disease severity in Japanese. Developing common and distinct potential biomarkers for MS among races may become useful for selecting disease-modifying drugs.
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