title: The CD11b-integrin (ITGAM) and systemic lupus erythematosus.
abstract: Variations at the ITGAM gene, which encodes for the CD11b chain of the Mac-1 (alphaMbeta2; CD11b/CD18; complement receptor-3) integrin, is one of the strongest genetic risk factors for systemic lupus erythematosus (SLE). More specifically, a genetic variant (rs1143679) which results in an arginine to histidine substitution at position 77 in the extracellular portion of the integrin is associated with disease. It has recently been shown that this amino acid substitution results in a dysfunctional integrin, which is deficient in mediating cell adhesion to integrin ligands, phagocytosis and in addition cannot restrict inflammatory cytokine production in macrophages. In this review, we discuss immunological functions of the Mac-1 integrin and how defects in the genetic variant of Mac-1 may relate to SLE development.
authors.affiliation: Medical Research Institute, Ninewells Hospital and Medical School, Institute of Biotechnology, University of Helsinki, Finland. s.c.fagerholm@dundee.ac.uk
authors.forename: S C
authors.initials: SC
authors.lastname: Fagerholm
authors.forename: M
authors.initials: M
authors.lastname: MacPherson
authors.forename: M J
authors.initials: MJ
authors.lastname: James
authors.forename: C
authors.initials: C
authors.lastname: Sevier-Guy
authors.forename: C S
authors.initials: CS
authors.lastname: Lau
mesh_terms: D019943:Amino Acid Substitution; D000818:Animals; D039481:CD11b Antigen / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000235:genetics*; D016177:Macrophage-1 Antigen / Q000235:genetics* / Q000276:immunology; D012307:Risk Factors
chemical_list: D039481:CD11b Antigen; C509295:ITGAM protein, human; D016177:Macrophage-1 Antigen
keywords: ITGAM; Systemic lupus erythematosus; integrin