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Multiple sclerosis (MS) is an autoimmune disease of the central nervous system (CNS) that is characterized by injury to the myelin sheath and subsequent neurodegeneration. The growing field of MS genetics has found that MS is at least partially heritable, with genetic risk factors that overlap with other autoimmune diseases, such as rheumatoid arthritis or type 1 diabetes. By leveraging tens of thousands of samples, more than 230 genetic risk factors have been identified for MS. Genome-wide association studies (GWAS) have helped identify important non-HLA genetic risk factors, while a growing body of work has identified both protective and risk factors located on HLA genes. This has led to more questions concerning how gene-gene or gene-environment interactions may impact MS risk and development. While these areas of inquiry have proven to be very challenging, some gene-environment interactions have been reported, and some genetic factors have been associated with relapse rate and regions of lesion burden. Mendelian randomization experiments have been successfully employed to use genetic drivers of environmental risk factors to support causal associations between these factors and MS risk, eliminating concerns for reverse causation. The study of MS genetics has led to critical insights to the pathophysiology of the disease, and future work will help to determine what shapes an individual’s experience of the disease. |
