SNPwatch: New Associations Found for Multiple Sclerosis

Editor’s note: Pending an FDA decision, 23andMe no longer offers new customers access to health reports referred to in this post. Customers who purchased prior to November 22, 2013 will still be able to see their health reports, but those who purchased after that time will not. Those customers will have access to ancestry information as well as access to their uninterpreted raw data.

Scientists know that there isn’t one cause for multiple sclerosis (MS), but understanding this complex autoimmune disease has vexed medical researchers for years.

In the largest MS study to date, researchers recently identified 29 new genetic variants associated with the disease in people of European descent, bringing the list of MS-related genetic factors to more than 50.

The work, led by scientists at the Universities of Cambridge and Oxford and funded by the Wellcome Trust, also sheds more light on the molecular biology of the disease. Most of the variants discovered are in or near genes that drive the body’s immune responses, specifically those involved in the production of T-cells.

Multiple sclerosis is an autoimmune disease in which a person’s immune system attacks the myelin sheath that insulates nerve fibers in the brain and spinal cord. The damage to the sheaths impairs the signals traveling along the nerves, which in turn causes a range of symptoms including weakness, sensory disturbance, fatigue, visual impairments and loss of coordination. About 2.5 million people suffer worldwide from MS with about 400,000 of those in the United States.

“Our research settles a longstanding debate on what happens first in the complex sequence of events that leads to disability in multiple sclerosis,” said Alastair Compston, of the University of Cambridge, who led the study with Peter Donnelly from the Wellcome Trust Center for Human Genetics on behalf of the International Multiple Sclerosis Genetics Consortium.

“It is now clear that multiple sclerosis is primarily an immunological disease,” Compston said in a press release in early August.

(23andMe customers can look up 10 of the strongest associations newly identified in the study in their accounts using the Browse Raw Data feature and the table at the end of this post.)

What is also interesting about this latest research is that many of the genetic factors involved in MS are shared with other autoimmune diseases, like Crohn’s disease, lupus and type 1 diabetes.

One of the authors of the study, Dr. David Hafler, a professor of neurology and immunobiology at Yale University, said the breakthrough goes beyond just research into MS, but may help researchers in finding new ways to fight both MS and other diseases.

While researchers know that genetic plays an important role — people of European ancestry are more susceptible and a family history of MS also increases the odds of developing the disease — it’s only one of a large combination of factors that include environmental factors such as vitamin D intake, smoking, exposure to toxic chemicals and things like whether someone has had certain viruses like Epstein-Barr. In short multiple sclerosis is unpredictable and complex.

The new study involved nearly 10,000 people with MS from 15 different countries and a group of more than 17,000 people without the disease. In all, 23 research groups collaborated on the research.

Novel genetic associations for multiple sclerosis*

Variant Nearest Gene Version Odds Ratio
TAGAP T 0.88
None C 1.15
TNFSF14 T 0.88
IL22RA2 G 1.14
MYB A 1.09
ZFP36L1 T 0.88
PLEK G 0.87
CYP24A1 T 0.90
IL12B G 0.87
CD86 A 0.83

* Associations applicable in populations with European ancestry

SNPwatch gives you the latest news about research linking various traits and conditions to individual genetic variations. These studies are exciting because they offer a glimpse into how genetics may affect our bodies and health; but in most cases, more work is needed before this research can provide information of value to individuals. For that reason it is important to remember that like all information we provide, the studies we describe in SNPwatch are for research and educational purposes only. SNPwatch is not intended to be a substitute for professional medical advice; you should always seek the advice of your physician or other appropriate healthcare professional with any questions you may have regarding diagnosis, cure, treatment or prevention of any disease or other medical condition.


  • Maureen Markov

    Are any of these snps different to or in addition to the info on your “My Health” section reports for each of your 23&me members?

    In other words, will the My Health section reflect this info or does it already? I am not clear if this is new info or info that is already used in your report here.

    Thanks for responding? mm

    • http://23andme.com Shwu

      The SNPs listed in the table here are novel associations that have not yet been incorporated into 23andMe’s health reports. The study also replicates many other associations that are not yet part of the health report for MS. All of these associations will need to go through a vetting process to determine which can be incorporated.

      The study is linked in the post and can be found here: http://www.nature.com/nature/journal/v476/n7359/full/nature10251.html. The article is behind a pay-wall but I believe the Supplementary material (which contains details for all of the associations) can be downloaded freely.

  • Maureen Markov

    Also, what would be the source of the 50 factors mentioned and who are the collaborators?

  • Deep South Lori

    Thanks for this additional information. I also went out and downloaded the tables. Being new here I have some questions if someone would be so kind to help explain.

    When I look at my genotype, does it matter which position the risk allele is in, the first or the second?

    Is there any significance to having two copies of the risk allele?

    What if the snp is not shown on my genotype? Does that mean I do not have that particular snp?

    Any clarity would help what right now is my very basic understanding. Thanks so much for sharing.

    • http://23andme.com Shwu

      Hi Lori,

      The relative order of the letters in your genotype does not matter. On 23andMe, your genotype is always shown in alphabetical order, e.g. “AG” rather than “GA”. Usually, having two copies of the “risky” version of a SNP is associated with higher odds of the condition compared to having just one copy, though there are exceptions. (Note, however, that having one copy of the “risky” version is often very common to begin with, so having one copy might not accurately be considered to be correlated to higher risk than average. That version is just “risky” compared to the other version of the SNP.)

      If you see a “not genotyped” result when searching for a SNP in your data, it simply means that your DNA was not tested for that SNP. The previous version of our DNA analysis platform tested for about 600,000 SNPs, while the current version tests for about 1 million SNPs.

      Hope this information helps, and if you have further questions, feel free to contact help@23andme.com!

Return to top