An Osteopontin (SPP1) Polymorphism is Associated with Systemic Lupus Erythematosus

被引：85

作者：

Forton, A. C.

Petri, M. A. ^{[2
]}

Goldman, D. ^{[2
]}

Sullivan, K. E. ^{[1
]}

机构：

[1] Univ Penn, Childrens Hosp Philadelphia, Sch Med, Div Immunol, Philadelphia, PA 19104 USA

[2] Johns Hopkins Univ, Sch Med, Div Rheumatol, Baltimore, MD 21218 USA

来源：

HUMAN MUTATION | 2002年 / 19卷 / 04期

关键词：

osteopontin; SPP1; systemic lupus erythematosus; SLE; SNP; association;

D O I：

10.1002/humu.9025

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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. (C) 2002 Wiley-Liss, Inc.

引用

页数：4

共 14 条

[1] Eta-1 (osteopontin): An early component of type-1 (cell-mediated) immunity [J].