Clinical Research Papers:

Association of FCGR2A/FCGR3A variant rs2099684 with Takayasu arteritis in the Han Chinese population

Si Chen, Xiaoting Wen, Jing Li, Yuan Li, Liubing Li, Xinping Tian, Hui Yuan, Fengchun Zhang and Yongzhe Li _

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Oncotarget. 2017; 8:17239-17245. https://doi.org/10.18632/oncotarget.12738

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Si Chen1,2,*, Xiaoting Wen1,*, Jing Li1,*, Yuan Li1, Liubing Li1, Xinping Tian1, Hui Yuan2, Fengchun Zhang1 and Yongzhe Li1

1 Department of Rheumatology and Clinical Immunology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Beijing, China

2 Department of Clinical Laboratory, Beijing Anzhen Hospital, Capital Medical University, Beijing, China

* These authors have contributed equally to this work

Correspondence to:

Yongzhe Li, email:

Keywords: Takayasu arteritis, FCGR2A/FCGR3A, rs2099684, Chinese, Han

Received: April 12, 2016 Accepted: October 14, 2016 Published: October 18, 2016


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.

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