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An osteopontin (SPP1) polymorphism is associated with systemic lupus erythematosus
Author(s) -
Forton A.C.,
Petri M.A.,
Goldman D.,
Sullivan K.E.
Publication year - 2002
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.9025
Subject(s) - osteopontin , biology , immunology , systemic lupus erythematosus , lupus nephritis , phenotype , genetic predisposition , polymorphism (computer science) , disease , genotype , genetics , gene , medicine
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. © 2002 Wiley‐Liss, Inc.