Genetics and functional genomics of multiple sclerosis

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.

Automated summary

Multiple sclerosis is an inflammatory neurodegenerative disease with a strong genetic component. Genome-wide association studies have identified over 200 genetic loci associated with MS susceptibility, but there are still many unknowns and challenges. Definitive studies of disease progression and endophenotypes have yet to be conducted, and the functional characterization of the identified MS variants is still lacking. Despite these shortcomings, the unraveling of MS genetics has provided insights into the causal mechanisms of the disease.