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

A. C. Forton, Michelle Petri, Daniel Goldman, K. E. Sullivan

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
Pages (from-to)459
Number of pages1
JournalHuman Mutation
Volume19
Issue number4
Publication statusPublished - Apr 2002

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ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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