Towards an understanding of Multiple Sclerosis (TUMS)

Study code

Lead researcher
Professor Stephen Sawcer

Study type
Participant re-contact

Institution or company
University of Cambridge

Researcher type

Speciality area
Neurological Disorders

Recruitment Site


Multiple sclerosis (MS) is a common cause of neurological disability in young adults in the UK. Available evidence suggests that the disease is primarily autoimmune and over the past few years genome-wide association studies have begun to reveal the genetic architecture underlying susceptibility to the disease and have thereby generated renewed hope for the development of rational therapy. 

In a previous study of individuals from the Cambridge Bioresource we have shown that two of the 110 genetic variants known to be associated with MS influence the expression of co-stimulatory markers on the surface of class of specialised immune cells called naïve B cells. In this extension study we are aiming to test a third MS associated variant and a third co-stimulatory gene. Our data suggest that naive B cells may be especially important in the development of MS. 

Participation: For this study we recruited 28 participants from the Cambridge BioResource to give a 50ml blood sample. 

Organisation: This study is organised by Professor Stephen Sawcer at the Cambridge Neuroscience department at the University of Cambridge. 

Update from researchers: 

Multiple sclerosis (MS) is a disease in which the immune system attacks and damages the brain and spinal cord. There are over 100,000 people with this disease in the UK, the majority of whom suffer chronic and increasingly severe disability.   

Careful epidemiological analysis has shown that multiple genetic factors influence the risk of developing the disease, each only conferring a modest effect on risk. Despite the fact that the human genetic code contains more than 3 billion elements modern DNA analysis has allowed us to identify almost 200 relevant regions. Each of these regions contains a genetic factor, a change in the code, which increase the risk of developing the disease. Most of these regions contain genes that have important functions in the immune system.  

In this research, we focused on one of these implicated regions, the region on chromosome 3 that contains a gene called CD86. This gene is part of the system of genes that regulate immune reactions. In detailed experiments involving samples from Cambridge Bioresource participants we found that individuals carrying the MS risk allele, the version of the genetic code that increases the risk of disease, were prone to more severe immune reactions. These results are currently being prepared for publication.