Association of FCGR3A and FCGR3B copy number variations with systemic lupus erythematosus and rheumatoid arthritis in Taiwanese patients.

摘要: IgG Fcγ receptors (FcγRs) mediate a variety of immune functions that are critical in responses. In humans, 5 classic low-affinity FcγRs (FcγRIIA, FcγRIIB, FcγRIIC, FcγRIIIA, and FcγRIIIB) coded by genes (FCGR2A, FCGR2B, FCGR2C, FCGR3A, FCGR3B, respectively) the FCGR cluster on chromosome 1. Activating cell activation promoting inflammation, while inhibitory FcγRIIB dampens responses restricts inflammation (1,2). including complex clearance, phagocytosis, antigen presentation, antibody-dependent cellular cytotoxicity, cytokine production (3). contrast, abrogates activation. also plays role maintenance peripheral B tolerance prevention autoimmunity (2). The variations FcγR expression significantly affect complex–mediated signal thresholds (3,4). Notably, proinflammatory antiinflammatory cytokines could modulate levels activating (5) threshold response to complexes (6). FcγR-knockout mouse models indicate both influence development autoimmune diseases (7–9). The contributions have attracted substantial attention, functional polymorphisms been reported play important roles pathogenesis (4,10,11). Gene copy number variation (CNV) is rich source genetic heterogeneity (12,13). 1q23 shows pattern CNVs. Among cluster, 3 (FCGR3A, FCGR3B) CNVs, FCGR2A FCGR2B do not CNVs (14,15). human disease (16). FCGR3B deficiency associated with disease, systemic lupus erythematosus (SLE) (17–19), Sjogren's syndrome (20), sclerosis (21). Although were associate rheumatoid arthritis (RA) (22–24), no association between RA was observed other studies (25,26). Moreover, FCGR3A (24,27). current study, we investigated whether susceptibility SLE Taiwanese individuals. results provide new insights into FcγRIII family members an Asian population.