An osteopontin (SPP1) polymorphism is associated with systemic lupus erythematosus.
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.
Forton
A C
AC
The University of Pennsylvania School of Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Petri
M A
MA
Goldman
D
D
Sullivan
K E
KE
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
C506895:SPP1 protein, human; D012795:Sialoglycoproteins; D053495:Osteopontin