International Research Consortium Identifies 48 New Genetic Variants Associated with MS Risk

  • In the largest genetics study of its kind, researchers from around the world as part of the International Multiple Sclerosis Genetics Consortium (IMSGC) have identified an additional 48 genetic variants which may influence the risk of developing multiple sclerosis.  This work nearly doubles the number of known genetic risk factors, bringing the total to 110, and underlines the role that the immune system plays in the development of MS.  

    Published online September 29 in the journal Nature Genetics, the study, “Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis,” represents the work of an international team of 193 investigators from 84 research groups in 13 countries.  The study, which was led by Jacob McCauley, Ph.D., of the University of Miami Miller School of Medicine, was funded by more than 40 agencies and foundations, including the Wellcome Trust, the National Institutes of Health, and the National MS Society.  

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    Researchers used sophisticated genotyping technology known as ImmunoChip which was specifically designed to target a select set of genetic variants linked to one or more autoimmune diseases.  IMSGC researchers used the ImmunoChip platform to analyze the DNA from 29,300 individuals with multiple sclerosis and 50,794 unrelated healthy control without MS.  In addition to identifying 48 new genetic variants, the study confirmed and further refined a similar number of previously identified genetic associations.  

    Led author Dr. McCauley stated in a press release, "With the release of these new data, our ongoing effort to elucidate the genetic components of this complex disease has taken a major step forward. Describing the genetic underpinnings of any complex disease is a complicated but critical step.”

    The newly identified susceptibility genes in this study show a substantial overlap with those known to be implicated in other autoimmune diseases, such as inflammatory bowel disease and celiac disease.  This echoes previous genetic research conducted by IMSGC which identified genetic variants associated with MS as well as Crohn’s disease and Type 1 diabetes (Cotsapas, 2011; Sawcer, 2011).

    Results from this study will not immediately affect physician’s ability to provide genetic counseling to individuals regarding MS risk.  However, it may lead to improved targeted biologic treatments to combat MS in the future.  The genes identified in the current study are being confirmed and expanded in an independent, second large-scale set of cases with a research grant from the National MS Society.

    “By further refining the genetic landscape of multiple sclerosis and identifying novel genetic associations, we are closer to being able to identify the cellular and molecular processes responsible for MS and therefore the specific biological targets for future drug treatment strategies,” said Dr. McCauley.

    The International MS Genetics Consortium (IMSGC) was formed in 2003 with funding from the National MS Society and published results from the first Genome-Wide Association Study (GWAS) in 2007 that identified the 2nd and 3rd susceptibility genes known to predispose people to developing MS.  The Consortium later expanded to include more research groups from more countries, receiving grants to conduct larger GWAS studies such as the current one.

  • “These results are the culmination of a thoroughly collaborative effort. A study of this size and impact is only possible because of the willingness of so many hard working researchers and thousands of patients to invest their time and energy in a shared goal," said Dr. McCauley.


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    "NIH Awards $1.9 million to Find Genetic Markers to Explain How White Blood Cells Cause Damage in MS". Published September 6, 2013.



    International Multiple Sclerosis Genetics Consortiums (IMSGC). Beecham AH, Patsopoulos NA, De Jager P, Sawcer SJ, McCauley JL. Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.  Nature Genetics, 2013. doi:10.1038/ng.2770. Published online 29 September 2013.

    Eurekalert News Release. Researchers uncover 48 new genetic variants associated with multiple sclerosis.  Accessed September 30, 2013 at

    National MS Society News.  Global Consortium Identifies 48 Additional MS Risk Genes, with Funding from the National MS Society and Others. Accessed September 30, 2013 at

    Cotsapas C, Voight BF, Rossin E, et al. Pervasive Sharing of Genetic Effects in Autoimmune Disease.  PLoS Genetics, 2011; 7(8): e1002254 doi:10.1371/journal.pgen.1002254.  Accessed at

    Sawcer S, et al. Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.  Nature, 2011; 476 (7359): 214.  doi: 10.1038/nature10251. Accessed at


    Lisa Emrich is author of the blog Brass and Ivory: Life with MS and RA and founder of the Carnival of MS Bloggers.


Published On: September 30, 2013