Genetic study hones in on causes of MS

The genome-wide association studies (GWAS) are coming thick and fast these days, as lower costs of conducting the studies enables researchers to recruit vastly greater numbers to pin down some of the more elusive genetic contributing factors to disease.

This study looked at multiple sclerosis, a common disease of the central nervous system, where the body’s immune system appears to degrade the myelin sheaths around nerves.

The massively multi-national study involved taking genetic samples from 9,772 individuals with MS and 17,376 individuals without, all of European descent, collected by 23 research groups across 15 countries, including Australia.

The study found that 20 variations of the genome previously associated with MS were confirmed, and uncovered 29 new variations that appear to increase susceptibility to the disease.

Many of these variations occur around the major histocompatibility complex (MHC), which is a region of the genome integral to immune function, suggesting that it is, indeed, an immune system error that underlies MS.

Some of these variations influence T cell differentiation and maturation, suggesting a key role for these immune cells.

The study also found links with vitamin D deficiency, which has previously been associated with MS.

The greater understanding of the genetic variations associated with MS gives scientists a deeper insight into its causes and raises the possibility of new treatments. By honing in on the genes in the immune system, they might be able to uncover the precise role that each play in instigating the immune system to attack its own cells, and how to prevent that from happening.

The paper was published in Nature today.