On one hand many newly diagnosed multiple sclerosis (MS) patients ask why they are the first ones in their family with MS.
On the other hand, we see patients where one or more family members have the disease.
MS is not a classically inherited disease; however, the risk of developing MS is higher for siblings or children of a person with MS than for the general population. The lifetime risk of MS in first-degree relatives of MS patients is estimated at 3%. Important knowledge also comes from twin studies: identical twins were shown to exhibit higher risk (25%–30%) than fraternal twins (3%–7%, which corresponds to the risk for first degree relatives). So far about 200 genes have been described that each contribute a small amount to the overall risk of developing MS.
Aside from the risk of developing MS there has been an interest in the possible association of certain genes to the clinical presentation of MS patients.
A collaboration between the International MS Genetics Consortium (IMSGC) and the MS Consortium with 70 institutions from around the world conducted a recent genome-wide association study (GWAS), looking at a total of 22,000 people with MS. They investigated if there is an association of particular disease traits to genetic variants. These traits of interest were related to MS severity, including the years it took for each person to develop disabilities. The analysis including 7 million genetic variants and one was associated with faster disease progression. This variant is located between two genes with no prior connection to MS (DYSF and ZNF638).
In summary, this study identified for the first time a genetic variant associated with faster progression of MS. This might provide a future opportunity to identify these patients at higher risk for disability and ideally to develop treatment strategies tailored to these patients.
Ulrike Kaunzner MD, PhD