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Breakthrough developments in rheumatoid arthritis reported

ings with rheumatoid arthritis (and some family members without it) in an attempt to single out those genes that are involved in the autoimmune process. In fact, in 2004, they identified a gene called PTPN2 that confers a two-fold risk for rheumatoid arthritis and a number of other autoimmune diseases. The Feinstein now holds the largest collection from rheumatoid arthritis patients in the world.

Following the cellular pathway, it has been shown that PTPN22 influences the “trigger point” for activation of T-cells, immune cells that are normally called on to wage battle against infection. In autoimmune diseases like rheumatoid arthritis, PTPN22 appears to put people at higher risk of a wayward T-cell response.

The group has since gone on to use modern genetic methods to search for single nucleotide polymorphisms, or SNPs, to identify players that have fallen under the radar of older methods. The group has discovered another signaling molecule that seems to increase a person’s risk for rheumatoid arthritis by 30 percent. (The paper reporting the gene is in press.)

In collaborations with other scientists worldwide, Dr. Gregersen has also been able to show that certain markers are strongly linked to certain ethnic groups and others are not. “This will help us in figuring out what exactly is going on in this illness,” he said. “It’s pretty exciting.”

Early on in the rheumatoid arthritis research game, when HLA popped out as a major genetic player in the condition in the 1980s, Dr. Gregersen discovered that there was a shared bit of DNA that traveled in the disease. What took two years to identify in the laboratory – shared bands of genetic material – would take two days today. And that speed is what excites Dr. Gregersen. “We have the tools to get at these genes rather quickly now,” he said. “The more patients and controls that we have, the more power we will have to pull out new genes and make associations.”

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Source:North Shore-Long Island Jewish (LIJ) Health System


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