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Front Neurol. 2014 Jul 14;5:130. doi: 10.3389/fneur.2014.00130. eCollection 2014.

Recent advances and future challenges in the genetics of multiple sclerosis.

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Neuropsychiatric Genetics Group, Department of Vertebrate Genomics, Max Planck Institute for Molecular Genetics , Berlin , Germany ; Focus Program Translational Neuroscience, Department of Neurology, University Medical Center of the Johannes Gutenberg University Mainz , Mainz , Germany.


Multiple sclerosis (MS) is the most common auto-inflammatory disease of the central nervous system, affecting more than 2 million individuals worldwide. It is a genetically complex disease, in which a substantial part of a person's liability to develop MS is caused by a combination of multiple genetic and non-genetic (e.g., environmental) risk factors. Increasing this complexity, many of the involved risk factors likely interact in an intricate and hitherto ill-defined fashion. Despite these complexities, and owing greatly to the advent and application of large-scale genome-wide association studies, our understanding of the genetic factors underlying MS etiology has begun to gain unprecedented momentum. In this perspective, I will summarize some recent advances and outline future challenges in MS genetics research.


autoimmune disease; epigenetics; genome-wide association study; heritability; immunogenetics; multiple sclerosis; rare variants

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