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Multiple Sclerosis Health Center

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New Multiple Sclerosis Gene Found

Variations in the IL7R Gene May Make Multiple Sclerosis More Likely, New Studies Show
WebMD Health News
Reviewed by Louise Chang, MD

July 30, 2007 -- Three new studies show that the IL7R gene, which affects the immune system, may affect a person's chances of developing multiple sclerosis.

Variations in the IL7R gene are common, and they're more common in people with multiple sclerosis (MS) than in people without multiple sclerosis, according to the trio of new studies.

The finding may eventually lead to new treatments for multiple sclerosis, researcher Margaret Pericak-Vance, PhD, tells WebMD.

"Either this gene -- the IL7R -- or a gene related to it may be an excellent target that drug companies can use to develop treatments and cures," says Pericak-Vance, who directs the Miami Institute for Human Genomics at the University of Miami.

Multiple Sclerosis Genes

Pericak-Vance worked on two of the three new studies on the genetics of multiple sclerosis.

She explains that the IL7R gene is "involved in the immune system," but that its precise role in multiple sclerosis isn't clear yet.

Scientists have worked for decades to find gene variations tied to multiple sclerosis, and that's proven to be a complex challenge, Pericak-Vance notes.

"You know how some puzzles have 500 [pieces and] some have 1,000 pieces? Well, when we started, we thought, 'OK, this is a 500-piece puzzle.' But as we did more and more research over the decades, we realized that, 'Oh my God, we really have a 1,000-piece puzzle we're trying to put together,'" says Pericak-Vance.

"It's been 20-plus years, and even though we know genes are important, we haven't been able to find them. And now, after these many years, we finally hit upon one," she says.

New Multiple Sclerosis Gene Studies

In each of the three new studies, scientists compared the genes of people with and without multiple sclerosis, and then checked their findings by studying still more people.

All in all, the studies included more than 14,000 people. Two of the studies appear in the journal Nature Genetics. The third study and a related editorial appear in The New England Journal of Medicine.

The IL7R gene stood out in all three studies. Another gene, called IL2RA, is also noted in the study published in The New England Journal of Medicine.

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