HUMAN GENETICS

The genetic architecture of multiple sclerosis

Science 365, eaav7188 (2019)

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A large-scale meta-analysis of multiple sclerosis (MS) genetic data identifies over 200 variants that are significantly associated with MS susceptibility.

MS is a debilitating autoimmune disease that affects the central nervous system. Previous studies have identified a number of genetic variants related to the disease; however, most of the genetic risk remains unknown.

Investigators from the International Multiple Sclerosis Genetics Consortium analyzed genome-wide data from over 47,000 individuals with MS and 68,000 controls. They found a large number of new genetic loci associated with MS, including the first variant identified on the X chromosome and an enrichment of MS genes in both the innate and adaptive immune systems in the periphery, as well as in microglia.

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Correspondence to Kate Gao.

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Gao, K. The genetic architecture of multiple sclerosis. Nat Med 25, 1647 (2019). https://doi.org/10.1038/s41591-019-0656-3

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