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Genetics and functional genomics of multiple sclerosis

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Abstract

Multiple sclerosis (MS) is an inflammatory neurodegenerative disease with genetic predisposition. Over the last decade, genome-wide association studies with increasing sample size led to the discovery of robustly associated genetic variants at an exponential rate. More than 200 genetic loci have been associated with MS susceptibility and almost half of its heritability can be accounted for. However, many challenges and unknowns remain. Definitive studies of disease progression and endophenotypes are yet to be performed, whereas the majority of the identified MS variants are not yet functionally characterized. Despite these shortcomings, the unraveling of MS genetics has opened up a new chapter on our understanding MS causal mechanisms.

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Funding

This work was supported in part by National Multiple Sclerosis Society (grants JF-1808–32223 and RG-1707–28657).

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Authors and Affiliations

  1. Systems Biology and Computer Science Program, Ann Romney Center for Neurological Diseases, Department of Neurology, Brigham & Women’s Hospital, Boston, 02115 MA, USA

    Woori Kim & Nikolaos A. Patsopoulos

  2. Harvard Medical School, Boston, MA, 02115, USA

    Woori Kim & Nikolaos A. Patsopoulos

  3. Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA, USA

    Woori Kim & Nikolaos A. Patsopoulos

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  1. Woori Kim
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This article is a contribution to the special issue on: Genetics and functional genetics of Autoimmune diseases - Guest Editors: Yukinori Okada & Kazuhiko Yamamoto

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Kim, W., Patsopoulos, N. Genetics and functional genomics of multiple sclerosis. Semin Immunopathol 44, 63–79 (2022). https://doi.org/10.1007/s00281-021-00907-3

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