In a study that sought to identify common genetic variants in families with more than one member with a diagnosis of multiple sclerosis (MS), researchers from the University of British Columbia identified 12 candidate gene variants.
Most people living with MS do not have a family history of the disease. However, there is a small group of those living with MS, estimated to be 12.6% globally, with a close relative also diagnosed with MS. Some researchers believe that this connection might be attributed to specific genetic changes (or variants) passed along generations. Conditions like MS are not likely dependent on a single gene or mutation, but instead, represent a complex interplay of genetic and environmental factors that together play a role in the risk of disease onset and progression.
This study, titled “Exome sequencing in multiple sclerosis families identifies 12 candidate genes and nominates biological pathways for the genesis of disease” was published in the journal PLOS Genetics.
Researchers examined DNA sequences from 132 people in 34 families where MS affected more than one family member to determine whether there were common genetic changes in these families.
In the results, researchers identified twelve candidate genetic variants that may be associated with MS onset. These genetic variants appear to cluster in immunological pathways, suggesting a common biological process underlying onset of MS in families. However, not all family members with these candidate gene variants developed MS. This would suggest that in addition to having these gene variants, other genetic changes and environmental factors are likely required to trigger the onset of MS.
Researchers concluded that more research is needed to continue to validate these candidate gene variants and their role in MS. However, a better understanding of these changes and the biological pathways associated with the onset of MS will support the development of new preventative treatments. Identifying gene variants could also lead to cell and animal models being developed in the future.
Source: MS-UK 11/07/19