"Recent familial studies show genes other than HLA-B27 have possible implications for AS, " said Dr. Reveille, head of the coordinating center leading the study. "Mapping these genes may shed fundamental light on AS and other autoimmune diseases," he added. HLA-B27 is a part of a family of genes known to play a role in the function of that part of the immune system known as the major histocompatibility complex (MHC).
The consortium's goals begin with the recruitment of families in which two siblings have been diagnosed with AS. The Spondylitis Association of America will have a major role in recruitment of patients and also will maintain a central registry of information on families and sibling pairs with AS (including clinical, x-ray and laboratory data). At the University of Texas-Houston Health Science Center, researchers will establish a bank of sera (or blood), genomic DNA and frozen lymphocytes (or white blood cells) from the affected and unaffected sibling pairs, and -- when available -- both their parents.
Through genetic typing methods, researchers will search for additional alleles (or alternative forms of a gene) within the MHC that may contribute to predisposition of AS. In addition, they will conduct a genome-wide search for sibling pairs affected and unaffected by AS and map genes linked to AS that exist outside of the MHC. Finally, the research team hopes to identify, from newly mapped candidate genes, mutations and their effect on disease severity.
"We are pleased to be a part of this active ongoing partnership between an outstanding research team and the Spondylitis Association of America. This partnership is key to ensuring the success of this important project," said Dr. Katz.
The principal investig
Contact: Kelli Carrington
NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases