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

Hum Mutat. 2002 Apr;19(4):459. doi: 10.1002/humu.9025.

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.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Chi-Square Distribution
  • Gene Frequency
  • Genetic Predisposition to Disease / genetics*
  • Humans
  • Lupus Erythematosus, Systemic / genetics*
  • Opportunistic Infections / genetics
  • Osteopontin
  • Phenotype
  • Polymorphism, Genetic / genetics*
  • Renal Insufficiency / genetics
  • Sialoglycoproteins / genetics*
  • White People / genetics

Substances

  • SPP1 protein, human
  • Sialoglycoproteins
  • Osteopontin