Identifying candidate genes as potential risk factors for multiple sclerosis

SUMMARY: Researchers from the University of British Columbia sought to identify common genetic changes (or variants) in families with more than one member with MS. While the onset of MS is complex, genetic changes may be potential risk factors in this process. Through this study, researchers identified twelve candidate gene variants, many of which are clustered in immune system pathways.

BACKGROUND: 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. Diseases 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. A better understanding of the genetic influences as risk factors for MS can provide insights into the biological pathways involved at onset.

STUDY: An international team of researchers at the University of British Columbia 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 (or variants) in these families.

RESULTS: The 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. It is important to note that although this study provides some insight into the early origins of the disease, not all family members harbouring the candidate gene variants developed MS. This suggests that in addition to having this genetic variant, other genetic changes and environmental factors are likely required to trigger the onset of MS. More research is needed to continue to validate these candidate gene variants and their role in MS.

IMPACT: A greater understanding of the genetic changes and the biological pathways associated with the onset of MS will support the development of new preventative treatments. Additionally, gene variants identified through this study may be used to develop cell and animal models that can help accelerate the development and testing of potentially preventative treatments.

Research study is published in PLOS Geneticslink.