Journal Article

Involvement of Genetic Factors in Multiple Sclerosis

Ferrè, Laura, Filippi, Massimo, Esposito, Federica

2020

Overview

[...]it is still unclear whether neurodegeneration is a direct consequence of inflammatory CNS injury or whether it represents a primitive independent process, and a better understanding of the interplay between these two aspects of the disease is warranted. Noteworthy, the prioritized effects were enriched in genes involved in lymphocyte functions and in particular in T cell activation and proliferation. [...]genes linked to Vitamin D metabolism, such as CYP27B1, CYP24A1, and genes coding for targets of MS immune-modulatory therapies, including VCAM1 for natalizumab and IL2RA for daclizumab, were also highlighted. [...]the main role played by the immune system is also reflected in the significant proportion of MS risk variants that is shared with other autoimmune diseases (Richard-Miceli and Criswell, 2012), such as type 1 diabetes, rheumatoid arthritis and intestinal bowel diseases, even though sometimes with opposite effect. First of all, candidate gene studies have assessed the role of genes implicated in MS susceptibility in determining disease course, failing to identify any significant association (Jensen et al., 2010) except for the HLA-DRB1*1501 allele (Hauser et al., 2000; Barcellos et al., 2003).

• Publisher: Frontiers Research Foundation,Frontiers Media S.A
• Subject: Antigens / Autoimmune diseases / Cell activation / Cellular Neuroscience / Chromosomes / Coding / Consortia / Cytokines / Diabetes mellitus (insulin dependent) / Disease / disease severity / Drb1 protein / Gene expression / Genetic factors / Genetics / Genomes / Health risk assessment / Histocompatibility antigen HLA / Immune system / Immunology / Immunomodulation / Inflammation / Interleukin 2 receptors / Intestine / Lymphocytes / Lymphocytes T / Monoclonal antibodies / Multiple sclerosis / Neurodegeneration / Pathogenesis / Rheumatoid arthritis / Transcription activation / treatment response / Vitamin D