Scientists discover genetic marker responsible for two-fold increase in risk of rheumatoid...( MANHASSET NY A team of researchers ha...)

MANHASSET, NY A team of researchers has discovered a genetic variation that doubles the risk for rheumatoid arthritis (RA). The variation, referred to as a single nucleotide polymorphism (SNP, pronounced "snip"), is present in about 28 percent of individuals with rheumatoid arthritis and 17 percent of the general population. This discovery resulted from a collaboration between scientists from the North American Rheumatoid Arthritis Consortium (NARAC), led by Peter K. Gregersen, MD, of the North Shore-Long Island Jewish Research Institute in Manhasset, NY, Celera Diagnostics and Genomics Collaborative, Inc. The team's findings are being published in the August 2004 issue of the American Journal of Human Genetics.

"This is an important discovery, really a major genetic variant identified in a U.S. study that clearly seems to be involved in rheumatoid arthritis," said Stephen I. Katz, MD, PhD, director of the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), the lead agency at the National Institutes of Health (NIH) that supports NARAC.

While scientists still do not know the exact cause of RA, they do know it is an autoimmune disease in which the body's natural immune system does not function properly and attacks its own healthy joint tissues. This causes inflammation and subsequent joint damage.

The SNP they linked to RA is located in a gene that codes for an enzyme (called PTPN22) that is known to be involved in controlling the activation of immune cells called T cells. Under normal conditions, the enzyme works as a "negative regulator" --- meaning it inactivates a specific signaling molecule, which in turn interrupts the communication lines and keeps immune cells from becoming overactive. In cases where the SNP is present in one or both copies of an individual's genes for this enzyme, the team found that the negative regulation by this enzyme appears to be inefficient,
'"/>

Contact: Christina Verni
cverni@nshs.edu
516-562-1232
North Shore-Long Island Jewish (LIJ) Health System
24-Jun-2004

Page: 1 2 3
Related biology news :

1. Scientists to prototype cyberinfrastructure for research and education access to ocean observatories
2. Scientists sequence genome of kind of organism central to biospheres carbon cycle
3. Scientists find nanowires capable of detecting individual viruses
4. Scientists discover potential new way to control drug-resistant bacteria
5. Scientists explore genome of methane-breathing microbe
6. Scientists decipher genetic code of biothreat pathogen
7. Stuck on you: Scientists lay bare secrets of bacterial attachment proteins
8. Scientists discover proteins involved in spread of HIV-1 infection
9. Scientists fear new Ebola outbreak may explain sudden gorilla disappearance
10. Scientists reinvent DNA as template to produce organic molecules
11. Scientists visualise cellular handmaiden that restores shape to proteins