An osteopontin (SPP1) polymorphism is associated with systemic lupus erythematosus

✍ Scribed by A.C. Forton; M.A. Petri; D. Goldman; K.E. Sullivan

• Publisher: John Wiley and Sons
• Year: 2002
• Tongue: English
• Weight: 125 KB
• Volume: 19
• Category: Article
• ISSN: 1059-7794
• DOI: 10.1002/humu.9025

✦ Synopsis

Osteopontin (SPP1) is a soluble ligand with pleomorphic immunologic activities including activation of macrophage chemotaxis, promotion of Th1 responses, and activation of B1 B cells. It has been implicated in the development of murine lupus and is overexpressed in humans with systemic lupus erythematosus (SLE). We examined a polymorphism of osteopontin for an association with lupus in humans in an effort to determine whether there is any evidence that a genetic predisposition to altered osteopontin expression might explain the overexpression seen in human SLE patients. A silent polymorphism (707C>T, rs1126616) of osteopontin was significantly associated with SLE. Additional associations with renal disease and opportunisitic infections were suggested. This is the first phenotypic association with a polymorphic variant of osteopontin.