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New genes for MS discovered: Two linked to vitamin D deficiency

Kathleen Blanchard's picture
multiple sclerosis genes

New research has uncovered 29 new genes that play a role in the development of multiple sclerosis. Two of the genes are linked to vitamin D deficiency, which has previously been suggested to play a role in the neurological disease.

The finding, published in the journal Nature, is the largest MS gene study to date. Scientists say the discovery doubles the number of genes that are known to play a role in the disease; opening the doors for more research.

“We now know just how complex multiple sclerosis is,” said Jonathan Haines, Ph.D., director of the CHGR and one of the principal researchers in this effort. “These new genes give us many new clues as to what is happening in MS and will guide our research efforts for years to come.”

One-third of the genes also play a role in the development of other autoimmune diseases such as type 1 diabetes and Crohn’s disease.

Two of the genes are linked to vitamin D deficiency, which supports past studies that multiple sclerosis may have environmental causes.

MS causes severe neurological symptoms. The disease affects 2.5 million people worldwide. No one knows what causes the disease. Symptoms vary between individuals.

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Multiple sclerosis can cause vision loss and paralysis and primarily affects young adults. The disease is more prevalent in women than men, according to the Centers for Disease Control.

For the study, scientists, including a team from Vanderbilt University Medical Center’s Center for Human Genetic Research (CHGR), compared genes of 9,772 individuals with multiple sclerosis to 17,376 unrelated healthy people.

Twenty-three research groups from 15 countries contributed to the gene study.

Researchers say there is much more to be discovered about susceptibility to MS. The gene discovery highlights the complex nature of the neurological disorder. The new study points to genetic cause of the disease, with vitamin D deficiency and autoimmune disorders as other potential contributors.

The study authors write, "Most of the genetic architecture underlying susceptibility to the disease remains to be defined and is anticipated to require the analysis of sample sizes that are beyond the numbers currently available to individual research groups."

In addition to the new genes discovered that include those involved in other autoimmune diseases and two linked to vitamin D deficiency, the researchers were also able to confirm 23 genes previously implicated for multiple sclerosis. The finding points to a genetic cause of MS, that may be triggered or exacerbated by environmental contributors.

Nature: doi:10.1038/nature10251
"Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis"
August 10 2011