Celera Diagnostics Identifies Gene Variant Associated With Increased Risk For Rheumatoid Arthritis

11-Jun-2004

Alameda and Berlin. Celera Diagnostics presented data linking variation in the gene PTPN22 to a two-fold increase in risk for rheumatoid arthritis (RA). In a scientific session at the Annual European Congress of rheumatology (EULAR) in Berlin, Ann Begovich, Ph.D., Director, inflammation at Celera Diagnostics, described the study, in which Celera Diagnostics and it collaborators at the North American Rheumatoid Arthritis Consortium (NARAC) and genomics Collaborative, Inc. discovered and replicated the role of this genetic variation in RA. Celera Diagnostics is a joint venture between the Applied Biosystems Group (NYSE:ABI) and Celera Genomics Group (NYSE:CRA) of Applera Corporation.

"Rheumatoid arthritis clearly has a genetic component, but the role of genes in disease risk and progression is not well understood. Information from this disease association study may have broad implications for RA and other autoimmune disorders," said Peter K. Gregersen, M.D., Principal Investigator of NARAC and Director of the Robert S. Boas Center for Genomics and Human Genetics at the North Shore-Long Island Jewish Research Institute, and a co-author of this study. "These exciting discoveries open a new window for studying the causes of autoimmune diseases. The role of certain immune cells in the development of rheumatoid arthritis is not fully understood. This genetic variant may affect other immune functions as well. We now have a way to pursue these questions."

"Celera Diagnostics is determining the clinical utility of this gene variant and other genetic markers for early diagnosis as well as prediction of both disease severity and a patient's response to various therapies in rheumatoid arthritis," said Thomas White, Ph.D., Chief Scientific Officer, Celera Diagnostics. "Our goal at Celera Diagnostics is to incorporate these discoveries into new diagnostic tests. In addition, we have discovery efforts underway related to other autoimmune diseases, including two studies undertaken on behalf of Celera Genomics."

Robert F. Booth, Ph.D., Chief Scientific Officer, Celera Genomics added, "The discovery of this gene variant provides new insights concerning the pathogenesis of rheumatoid arthritis. Celera Genomics is currently evaluating the biology surrounding these findings in the search for new drug targets that address the cause rather than the symptoms of the disease. Combining a diagnostic with an appropriate therapeutic could provide the first targeted medicine for rheumatoid arthritis."

Summary of Scientific Findings The genetic markers, or single nucleotide polymorphisms (SNPs), were discovered in a study that compared samples from 475 people diagnosed with RA to 475 individually matched controls. Potential genetic markers were replicated in a second sample collection from 840 RA patients, including siblings from 463 families, and control samples from 926 individuals. DNA samples analyzed in this study include those collected from families with RA collected by NARAC. Details of the research are scheduled for publication in the August issue of the American Journal of Human Genetics. In a related study with investigators at the University of Minnesota School of Medicine, the variant in PTPN22 was also shown to be involved in other autoimmune diseases. A study published earlier this year by other researchers in Nature Genetics associated the same SNP with type 1 diabetes.

PTPN22 is a gene that codes for a phosphatase enzyme that is known to be involved in regulating the immune system. Under normal conditions, the enzyme works as a "negative regulator" by keeping immune cells, specifically T cells, from becoming overactive. In cases where the SNP is present in one or both copies of an individual's genes, the negative regulation by this enzyme appears to be inefficient, so that immune cells are hyper responsive.

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