Fw: Gene variant may up lupus risk

[Guest guest]

Subject: Gene variant may up lupus risk

Gene variant may up lupus risk

NEW YORK - Scientists have identified a gene variation that may increase the risk of the autoimmune disease lupus. In people with lupus, or systemic lupus erythematosus (SLE) as it is officially known, the immune system loses the ability to differentiate between its own cells and outside invaders, so it attacks healthy cells including tissue in the joints, kidneys, lungs and other organs. Immune-suppressing drugs are used to treat the condition, but there is no cure. About one out of every 2,000 people in the West has lupus, which mainly strikes women. Previous research has zeroed in on chromosome regions that seem to be related to lupus, but scientists have not found particular genes that increase the risk of the autoimmune disease. A gene called PDCD1, which contains the instructions for making an immune protein, has been under suspicion because mice that do not have the gene develop an illness similar to lupus.Now a team led by Dr. Marta E. Alarcon-Riquelme, of the University of Uppsala in Sweden, has sequenced the PDCD1 gene in more than 2,500 people including people with lupus as well as in individuals without the disease. They identified a variant form of the PDCD1 gene that seems to increase the risk of lupus. The researchers report their findings in the advance online publication of the December issue of Nature Genetics.In a European sample, the gene variation was present in 12% of lupus patients compared with 5% of healthy individuals. Similarly, in a sample of Mexicans, 7% of people with lupus had the variant form of PDCD1 compared with 2% of healthy people.Since PDCD1 has some influence over the immune system's ability to recognize the body's own tissue, the variation in the expression of PDCD1 may play a role in the exaggerated immune response in lupus, according to the report.The findings "give new insight to understanding the disease," Alarcon-Riquelme and her colleagues conclude.Alarcon-Riquelme and another co-author are shareholders in Everygene AB, a Swedish company that has filed for a patent related to the research.SOURCE: Nature Genetics 2002;10.1038/ng1020.gigi*http://www.reutershealth.com/archive/2002/10/28/eline/links/20021028elin004.html