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International MS Genetics Consortium Links Four Rare Genetic Variants to MS

October 29, 2018

More information is needed before genetics can be used to predict MS

Members of the International Multiple Sclerosis Genetics Consortium (IMSGC) report that they have identified four novel genes containing rare variants— those with a frequency below 1 percent in the general population — that contribute to the risk of developing MS. Variants are alterations in DNA. In previous studies the IMSGC identified 233 common gene variants that contribute to MS. However, these variants do not explain all of the risk of developing MS, indicating the need for further research to investigate less common genetic variants that might help to fill this gap. They did so in a study involving 32,367 people with MS and 36,012 controls without MS.

Research suggests that MS occurs in individuals and in families whose genes make them susceptible, and that many genes contribute to MS susceptibility. In addition, individuals who are genetically at risk likely encounter some other triggering factor or factors in their environment to actually develop MS. Now this team is working further on understanding the pathways by which these genes interact to result in MS.

This discovery is exciting because it further defines the genetic contribution to MS risk. There is still much to learn before genetics can be used to diagnose or predict the outcome of MS.

Read more about this study in Yale News

View the paper in Cell, available via open access

Who gets MS?

About Multiple Sclerosis

Multiple sclerosis is an unpredictable, often disabling disease of the central nervous system that disrupts the flow of information within the brain, and between the brain and body. Symptoms range from numbness and tingling to blindness and paralysis. The progress, severity and specific symptoms of MS in any one person cannot yet be predicted, but advances in research and treatment are leading to better understanding and moving us closer to a world free of MS. Most people with MS are diagnosed between the ages of 20 and 50, with at least two to three times more women than men being diagnosed with the disease. MS affects more than 2.3 million people worldwide.

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