title: An osteopontin (SPP1) polymorphism is associated with systemic lupus erythematosus.
abstract: 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.
authors.affiliation: The University of Pennsylvania School of Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
authors.forename: A C
authors.initials: AC
authors.lastname: Forton
authors.forename: M A
authors.initials: MA
authors.lastname: Petri
authors.forename: D
authors.initials: D
authors.lastname: Goldman
authors.forename: K E
authors.initials: KE
authors.lastname: Sullivan
mesh_terms: D016009:Chi-Square Distribution; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000235:genetics*; D009894:Opportunistic Infections / Q000235:genetics; D053495:Osteopontin; D010641:Phenotype; D011110:Polymorphism, Genetic / Q000235:genetics*; D051437:Renal Insufficiency / Q000235:genetics; D012795:Sialoglycoproteins / Q000235:genetics*; D044465:White People / Q000235:genetics
chemical_list: C506895:SPP1 protein, human; D012795:Sialoglycoproteins; D053495:Osteopontin