What do we know about the genetics of MS?


Epub: Watson CT, Disanto G, Breden F, Giovannoni G, Ramagopalan SV. Estimating the proportion of variation in susceptibility to multiple sclerosis captured by common SNPs. Sci Rep. 2012;2:770. Epub 2012 Oct 25.

Multiple sclerosis (MS) is a complex disease with underlying genetic and environmental factors. Although the contribution of alleles within the major histocompatibility complex (MHC) are known to exert strong effects on MS risk, much remains to be learned about the contributions of loci with more modest effects identified by genome-wide association studies (GWASs), as well as loci that remain undiscovered. We use a recently developed method to estimate the proportion of variance in disease liability explained by 475,806 single nucleotide polymorphisms (SNPs) genotyped in 1,854 MS cases and 5,164 controls. We reveal that ~30% of MS genetic liability is explained by SNPs in this dataset, the majority of which is accounted for by common variants. These results suggest that the unaccounted for proportion could be explained by variants that are in imperfect linkage disequilibrium with common GWAS SNPs, highlighting the potential importance of rare variants in the susceptibility to MS.

Genome-wide association studies have been performed in MS to try and find disease associated genes. These studies typically test hundreds of thousands of markers at a time, and only those that are statistically significant after correcting for testing for all of these markers are given further attention. There are about 60 of these markers that currently pass this statistical threshold, and together they explain about 1% of the genetic basis of MS. Using new statistical methodology, we looked at more than 475000 markers and asked how much of the genetics of MS is explained by all of them together. Surprisingly, this was only 30%. Much therefore remains to be understood about MS genetics. Rare variants (variants only seen in less than 1% of the population and not really tested in the current study) are likely to play a big role in future studies”.

CoI: This is the work of Team G.

About the author


Leave a Reply to kshields11 Cancel reply

  • I've been taking a free online course in genetics (part of my efforts to keep my MS-addled brain sharp), and I now kind of understand this post. I think what I learned here is that the more we learn, the less we know.

  • The more we learn the less we know? Man, MS is like 0ne step forward ten steps back. Each answer discloses fifty unanswered questions. Riddles within riddles. Not fair.

    MouseDoc, where's our Halloween greetings? Get to work!

  • Hi, my name is Kelly and I am currently a high school student writing a research paper on if medical advancements will soon be able to find a cure for MS. Do you have any helpful insights or information on this?

    • There are medical advancements all over the blog, medical advancements are occurring all the time and the cure can always be round the corner. the best hope at the moment is that if you treat aggressively and early then disease may not start.

      Neuroprotection is just round the corner or has just started to land

      and repair is in the experimental stage

By Ram



Recent Posts

Recent Comments