Takayasu arteritis (TA) is a chronic large-vessel vasculitis of unclear pathogenesis. A recent genome-wide association study (GWAS) has revealed that the FCGR2A/FCGR3A, EEFSEC, RPS9/LILRB3, RIPPLY2 and MLX genes confer susceptibility to TA. We investigated the linkage between presumptive TA-related genes (FCGR2A/FCGR3A, EEFSEC, RPS9/LILRB3, RIPPLY2 and MLX) and TA in the Han Chinese population.We performed a large case-control multi-center study of 412 Han Chinese TA patients and 597 ethnically matched healthy controls. Five single nucleotide polymorphisms (SNPs) were assessed and genotyped using Sequenom MassArray system (iPLEX assay, Sequenom, San Diego, CA, USA).The frequency of the rs2099684 variant G allele in the FCGR2A/FCGR3A gene was significantly higher in the TA patients than in the controls (37.5% compared with 25.4%, OR =1.77, 95% CI: 1.46-2.14, Pc =1.5×10-8). Similar results were observed in genotype distribution analysis and logistic regression analyses conducted using three genetic models. The allele and genotype distributions for the other polymorphisms were not significantly associated with TA among the Han Chinese patients.The SNP rs2099684 in FCGR2A/FCGR3A can be considered a genetic risk factor for TA in the Chinese Han population. These findings provide further insights into the etiopathogenesis of TA.
Keywords: Chinese; FCGR2A/FCGR3A; Han; Takayasu arteritis; rs2099684.